877 results on '"Tremolizzo L."'
Search Results
2. Corticosteroid treatment for acute hydrocephalus in neurosarcoidosis: a case report
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Schilke, E, Remoli, G, Cutellé, C, Balducci, C, Cereda, D, Fusco, M, Tremolizzo, L, Ferrarese, C, Appollonio, I, Frigo, M, Schilke, ED, Fusco, ML, Schilke, E, Remoli, G, Cutellé, C, Balducci, C, Cereda, D, Fusco, M, Tremolizzo, L, Ferrarese, C, Appollonio, I, Frigo, M, Schilke, ED, and Fusco, ML
- Abstract
Background: Neurosarcoidosis occurs symptomatically in 5–10% of patients with sarcoidosis, and hydrocephalus is a rare complication of neurosarcoidosis, with either acute or subacute onset and presenting symptoms related to increased intracranial pressure. It represents a potentially fatal manifestation with a mortality rate of 22% (increased to 75% in case of coexistence of seizures) that requires a prompt initiation of treatment. High-dose intravenous corticosteroid treatment and neurosurgical treatment must be considered in all cases of neurosarcoidosis hydrocephalus. Case presentation: Here we present a case of hydrocephalus in neurosarcoidosis, complicated by generalized seizures, in a 29-year-old Caucasian male patient treated with medical treatment only, with optimal response. Conclusion: Since neurosurgery treatment can lead to severe complications, this case report underlines the possibility to undergo only medical treatment in selected cases. Further studies are needed to stratify patients and better identify those eligible for only medical approach.
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- 2024
3. Brain Health and Cognition in Older Adults: Roadmap and Milestones towards the Implementation of Preventive Strategies
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Pozzi, F, Remoli, G, Tremolizzo, L, Appollonio, I, Ferrarese, C, Cuffaro, L, Pozzi, Federico Emanuele, Remoli, Giulia, Tremolizzo, Lucio, Appollonio, Ildebrando, Ferrarese, Carlo, Cuffaro, Luca, Pozzi, F, Remoli, G, Tremolizzo, L, Appollonio, I, Ferrarese, C, Cuffaro, L, Pozzi, Federico Emanuele, Remoli, Giulia, Tremolizzo, Lucio, Appollonio, Ildebrando, Ferrarese, Carlo, and Cuffaro, Luca
- Abstract
In this narrative review, we delve into the evolving concept of brain health, as recognized by the WHO, focusing on its intersection with cognitive decline. We emphasize the imperative need for preventive strategies, particularly in older adults. We describe the target population that might benefit the most from risk-based approaches—namely, people with subjective cognitive decline. Additionally, we consider universal prevention in cognitively unimpaired middle-aged and older adults. Delving into multidomain personalized preventive strategies, we report on empirical evidence surrounding modifiable risk factors and interventions crucial in mitigating cognitive decline. Next, we highlight the emergence of brain health services (BHS). We explain their proposed role in risk assessment, risk communication, and tailored interventions to reduce the risk of dementia. Commenting on ongoing BHS pilot experiences, we present the inception and framework of our own BHS in Monza, Italy, outlining its operational structure and care pathways. We emphasize the need for global collaboration and intensified research efforts to address the intricate determinants of brain health and their potential impact on healthcare systems worldwide.
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- 2024
4. Neuropathological hints from CSF and serum biomarkers in corticobasal syndrome (CBS): a systematic review
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Remoli, G, Schilke, E, Magi, A, Ancidoni, A, Negro, G, Da Re, F, Frigo, M, Giordano, M, Vanacore, N, Canevelli, M, Ferrarese, C, Tremolizzo, L, Appollonio, I, Remoli, Giulia, Schilke, Edoardo Dalmato, Magi, Andrea, Ancidoni, Antonio, Negro, Giulia, Da Re, Fulvio, Frigo, Maura, Giordano, Martina, Vanacore, Nicola, Canevelli, Marco, Ferrarese, Carlo, Tremolizzo, Lucio, Appollonio, Ildebrando, Remoli, G, Schilke, E, Magi, A, Ancidoni, A, Negro, G, Da Re, F, Frigo, M, Giordano, M, Vanacore, N, Canevelli, M, Ferrarese, C, Tremolizzo, L, Appollonio, I, Remoli, Giulia, Schilke, Edoardo Dalmato, Magi, Andrea, Ancidoni, Antonio, Negro, Giulia, Da Re, Fulvio, Frigo, Maura, Giordano, Martina, Vanacore, Nicola, Canevelli, Marco, Ferrarese, Carlo, Tremolizzo, Lucio, and Appollonio, Ildebrando
- Abstract
Corticobasal syndrome (CBS) is a clinical syndrome determined by various underlying neurodegenerative disorders requiring a pathological assessment for a definitive diagnosis. A literature review was performed following the methodology described in the Cochrane Handbook for Systematic Reviews to investigate the additional value of traditional and cutting-edge cerebrospinal fluid (CSF) and serum/plasma biomarkers in profiling CBS. Four databases were screened applying predefined inclusion criteria: (1) recruiting patients with CBS; (2) analyzing CSF/plasma biomarkers in CBS. The review highlights the potential role of the association of fluid biomarkers in diagnostic workup of CBS, since they may contribute to a more accurate diagnosis and patient selection for future disease-modifying agent; for example, future trial designs should consider baseline CSF Neurofilament Light Chains (NfL) or progranulin dosage to stratify treatment arms according to neuropathological substrates, and serum NfL dosage might be used to monitor the evolution of CBS. In this scenario, prospective cohort studies, starting with neurological examination and neuropsychological tests, should be considered to assess the correlations of clinical profiles and various biomarkers.
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- 2024
5. Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort
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Ghirelli, A, Spinelli, E, Canu, E, Basaia, S, Castelnovo, V, Cecchetti, G, Sibilla, E, Domi, T, Magnani, G, Caso, F, Caroppo, P, Prioni, S, Villa, C, Rossi, G, Tremolizzo, L, Appollonio, I, Verde, F, Ticozzi, N, Silani, V, Filippi, M, Agosta, F, Ghirelli, Alma, Spinelli, Edoardo Gioele, Canu, Elisa, Basaia, Silvia, Castelnovo, Veronica, Cecchetti, Giordano, Sibilla, Elisa, Domi, Teuta, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Rossi, Giacomina, Tremolizzo, Lucio, Appollonio, Ildebrando, Verde, Federico, Ticozzi, Nicola, Silani, Vincenzo, Filippi, Massimo, Agosta, Federica, Ghirelli, A, Spinelli, E, Canu, E, Basaia, S, Castelnovo, V, Cecchetti, G, Sibilla, E, Domi, T, Magnani, G, Caso, F, Caroppo, P, Prioni, S, Villa, C, Rossi, G, Tremolizzo, L, Appollonio, I, Verde, F, Ticozzi, N, Silani, V, Filippi, M, Agosta, F, Ghirelli, Alma, Spinelli, Edoardo Gioele, Canu, Elisa, Basaia, Silvia, Castelnovo, Veronica, Cecchetti, Giordano, Sibilla, Elisa, Domi, Teuta, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Rossi, Giacomina, Tremolizzo, Lucio, Appollonio, Ildebrando, Verde, Federico, Ticozzi, Nicola, Silani, Vincenzo, Filippi, Massimo, and Agosta, Federica
- Abstract
Background: Semantic behavioral variant frontotemporal dementia (sbvFTD) is a neurodegenerative condition presenting with specific behavioral and semantic derangements and predominant atrophy of the right anterior temporal lobe (ATL). The objective was to evaluate clinical, neuropsychological, neuroimaging, and genetic features of an Italian sbvFTD cohort, defined according to recently proposed guidelines, compared to semantic variant primary progressive aphasia (svPPA) and behavioral variant FTD (bvFTD) patients. Methods: Fifteen sbvFTD, sixty-three bvFTD, and twenty-five svPPA patients and forty controls were enrolled. Patients underwent clinical, cognitive evaluations, and brain MRI. Symptoms of bvFTD patients between onset and first visit were retrospectively recorded and classified as early and late. Grey matter atrophy was investigated using voxel-based morphometry. Results: sbvFTD experienced early criteria-specific symptoms: world, object and person-specific semantic loss (67%), complex compulsions and rigid thought (60%). Sequentially, more behavioral symptoms emerged (apathy/inertia, loss of empathy) along with non-criteria-specific symptoms (anxiety, suspiciousness). sbvFTD showed sparing of attentive/executive functions, especially compared to bvFTD and better language functions compared to svPPA. All sbvFTD patients failed at the famous face recognition test and more than 80% failed in understanding written metaphors and humor. At MRI, sbvFTD had predominant right ATL atrophy, almost specular to svPPA. Three sbvFTD patients presented pathogenic genetic variants. Conclusion: We replicated the application of sbvFTD diagnostic guidelines in an independent Italian cohort, demonstrating that the presence of person-specific semantic knowledge loss and mental rigidity, along with preserved executive functions and a predominant right ATL atrophy with sparing of frontal lobes, should prompt a diagnosis of sbvFTD.
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- 2024
6. Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
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Pozzi, F, Aprea, V, Giovannelli, G, Lattuada, F, Crivellaro, C, Bertola, F, Castelnovo, V, Canu, E, Filippi, M, Appollonio, I, Ferrarese, C, Agosta, F, Tremolizzo, L, Pozzi, Federico Emanuele, Aprea, Vittoria, Giovannelli, Ginevra, Lattuada, Francesca, Crivellaro, Cinzia, Bertola, Francesca, Castelnovo, Veronica, Canu, Elisa, Filippi, Massimo, Appollonio, Ildebrando, Ferrarese, Carlo, Agosta, Federica, Tremolizzo, Lucio, Pozzi, F, Aprea, V, Giovannelli, G, Lattuada, F, Crivellaro, C, Bertola, F, Castelnovo, V, Canu, E, Filippi, M, Appollonio, I, Ferrarese, C, Agosta, F, Tremolizzo, L, Pozzi, Federico Emanuele, Aprea, Vittoria, Giovannelli, Ginevra, Lattuada, Francesca, Crivellaro, Cinzia, Bertola, Francesca, Castelnovo, Veronica, Canu, Elisa, Filippi, Massimo, Appollonio, Ildebrando, Ferrarese, Carlo, Agosta, Federica, and Tremolizzo, Lucio
- Abstract
We present an in-depth clinical and neuroimaging analysis of a family carrying the MAPT K298E mutation associated with frontotemporal dementia (FTD). Initial identification of this mutation in a single clinical case led to a comprehensive investigation involving four affected siblings allowing to elucidate the mutation's phenotypic expression. A 60-year-old male presented with significant behavioral changes and progressed rapidly, exhibiting speech difficulties and cognitive decline. Neuroimaging via FDG-PET revealed asymmetrical frontotemporal hypometabolism. Three siblings subsequently showed varied but consistent clinical manifestations, including abnormal behavior, speech impairments, memory deficits, and motor symptoms correlating with asymmetric frontotemporal atrophy observed in MRI scans. Based on the genotype–phenotype correlation, we propose that the p.K298E mutation results in early-onset behavioral variant FTD, accompanied by a various constellation of speech and motor impairment. This detailed characterization expands the understanding of the p.K298E mutation's clinical and neuroimaging features, underlining its role in the pathogenesis of FTD. Further research is crucial to comprehensively delineate the clinical and epidemiological implications of the MAPT p.K298E mutation.
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- 2024
7. Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores (Nature Communications, (2021), 12, 1, (3417), 10.1038/s41467-021-22491-8)
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de Rojas I., de Rojas, I, Moreno-Grau, S, Tesi, N, Grenier-Boley, B, Andrade, V, Jansen, I, Pedersen, N, Stringa, N, Zettergren, A, Hernandez, I, Montrreal, L, Antunez, C, Antonell, A, Tankard, R, Bis, J, Sims, R, Bellenguez, C, Quintela, I, Gonzalez-Perez, A, Calero, M, Franco-Macias, E, Macias, J, Blesa, R, Cervera-Carles, L, Menendez-Gonzalez, M, Frank-Garcia, A, Royo, J, Moreno, F, Huerto Vilas, R, Baquero, M, Diez-Fairen, M, Lage, C, Garcia-Madrona, S, Garcia-Gonzalez, P, Alarcon-Martin, E, Valero, S, Sotolongo-Grau, O, Ullgren, A, Naj, A, Lemstra, A, Benaque, A, Perez-Cordon, A, Benussi, A, Rabano, A, Padovani, A, Squassina, A, de Mendonca, A, Arias Pastor, A, Kok, A, Meggy, A, Pastor, A, Espinosa, A, Corma-Gomez, A, Martin Montes, A, Sanabria, A, Destefano, A, Schneider, A, Haapasalo, A, Kinhult Stahlbom, A, Tybjaerg-Hansen, A, Hartmann, A, Spottke, A, Corbaton-Anchuelo, A, Rongve, A, Borroni, B, Arosio, B, Nacmias, B, Nordestgaard, B, Kunkle, B, Charbonnier, C, Abdelnour, C, Masullo, C, Martinez Rodriguez, C, Munoz-Fernandez, C, Dufouil, C, Graff, C, Ferreira, C, Chillotti, C, Reynolds, C, Fenoglio, C, Van Broeckhoven, C, Clark, C, Pisanu, C, Satizabal, C, Holmes, C, Buiza-Rueda, D, Aarsland, D, Rujescu, D, Alcolea, D, Galimberti, D, Wallon, D, Seripa, D, Grunblatt, E, Dardiotis, E, Duzel, E, Scarpini, E, Conti, E, Rubino, E, Gelpi, E, Rodriguez-Rodriguez, E, Duron, E, Boerwinkle, E, Ferri, E, Tagliavini, F, Kucukali, F, Pasquier, F, Sanchez-Garcia, F, Mangialasche, F, Jessen, F, Nicolas, G, Selbaek, G, Ortega, G, Chene, G, Hadjigeorgiou, G, Rossi, G, Spalletta, G, Giaccone, G, Grande, G, Binetti, G, Papenberg, G, Hampel, H, Bailly, H, Zetterberg, H, Soininen, H, Karlsson, I, Alvarez, I, Appollonio, I, Giegling, I, Skoog, I, Saltvedt, I, Rainero, I, Rosas Allende, I, Hort, J, Diehl-Schmid, J, Van Dongen, J, Vidal, J, Lehtisalo, J, Wiltfang, J, Thomassen, J, Kornhuber, J, Haines, J, Vogelgsang, J, Pineda, J, Fortea, J, Popp, J, Deckert, J, Buerger, K, Morgan, K, Fliessbach, K, Sleegers, K, Molina-Porcel, L, Kilander, L, Weinhold, L, Farrer, L, Wang, L, Kleineidam, L, Farotti, L, Parnetti, L, Tremolizzo, L, Hausner, L, Benussi, L, Froelich, L, Ikram, M, Deniz-Naranjo, M, Tsolaki, M, Rosende-Roca, M, Lowenmark, M, Hulsman, M, Spallazzi, M, Pericak-Vance, M, Esiri, M, Bernal Sanchez-Arjona, M, Dalmasso, M, Martinez-Larrad, M, Arcaro, M, Nothen, M, Fernandez-Fuertes, M, Dichgans, M, Ingelsson, M, Herrmann, M, Scherer, M, Vyhnalek, M, Kosmidis, M, Yannakoulia, M, Schmid, M, Ewers, M, Heneka, M, Wagner, M, Scamosci, M, Kivipelto, M, Hiltunen, M, Zulaica, M, Alegret, M, Fornage, M, Roberto, N, van Schoor, N, Seidu, N, Banaj, N, Armstrong, N, Scarmeas, N, Scherbaum, N, Goldhardt, O, Hanon, O, Peters, O, Skrobot, O, Quenez, O, Lerch, O, Bossu, P, Caffarra, P, Dionigi Rossi, P, Sakka, P, Mecocci, P, Hoffmann, P, Holmans, P, Fischer, P, Riederer, P, Yang, Q, Marshall, R, Kalaria, R, Mayeux, R, Vandenberghe, R, Cecchetti, R, Ghidoni, R, Frikke-Schmidt, R, Sorbi, S, Hagg, S, Engelborghs, S, Helisalmi, S, Botne Sando, S, Kern, S, Archetti, S, Boschi, S, Fostinelli, S, Gil, S, Mendoza, S, Mead, S, Ciccone, S, Djurovic, S, Heilmann-Heimbach, S, Riedel-Heller, S, Kuulasmaa, T, del Ser, T, Lebouvier, T, Polak, T, Ngandu, T, Grimmer, T, Bessi, V, Escott-Price, V, Giedraitis, V, Deramecourt, V, Maier, W, Jian, X, Pijnenburg, Y, Smith, A, Saenz, A, Bizzarro, A, Lauria, A, Vacca, A, Solomon, A, Anastasiou, A, Richardson, A, Boland, A, Koivisto, A, Daniele, A, Greco, A, Marianthi, A, Mcguinness, B, Fin, B, Ferrari, C, Custodero, C, Ferrarese, C, Ingino, C, Mangone, C, Reyes Toso, C, Martinez, C, Cuesta, C, Muchnik, C, Joachim, C, Ortiz, C, Besse, C, Johansson, C, Zoia, C, Laske, C, Anastasiou, C, Palacio, D, Politis, D, Janowitz, D, Craig, D, Mann, D, Neary, D, Jurgen, D, Daian, D, Belezhanska, D, Kohler, E, Castano, E, Koutsouraki, E, Chipi, E, De Roeck, E, Costantini, E, Vardy, E, Piras, F, Roveta, F, Prestia, F, Assogna, F, Salani, F, Sala, G, Lacidogna, G, Novack, G, Wilcock, G, Thonberg, H, Kolsch, H, Weber, H, Boecker, H, Etchepareborda, I, Piaceri, I, Tuomilehto, J, Lindstrom, J, Laczo, J, Johnston, J, Deleuze, J, Harris, J, Schott, J, Priller, J, Bacha, J, Snowden, J, Lisso, J, Mihova, K, Traykov, L, Morelli, L, Brusco, L, Rainer, M, Takalo, M, Bjerke, M, Del Zompo, M, Serpente, M, Sanchez Abalos, M, Rios, M, Peltonen, M, Herrman, M, Kohler, M, Rojo, M, Jones, M, Orsini, M, Medel, N, Olivar, N, Fox, N, Salvadori, N, Hooper, N, Galeano, P, Solis, P, Bastiani, P, Passmore, P, Heun, R, Antikainen, R, Olaso, R, Perneczky, R, Germani, S, Lopez-Garcia, S, Love, S, Mehrabian, S, Bagnoli, S, Kochen, S, Andreoni, S, Teipel, S, Todd, S, Pickering-Brown, S, Natunen, T, Tegos, T, Laatikainen, T, Strandberg, T, Polvikoski, T, Matoska, V, Ciullo, V, Cores, V, Solfrizzi, V, Lisetti, V, Sevillano, Z, Aguilera, N, Alarcon, E, Boada, M, Buendia, M, Canabate, P, Carracedo, A, Diego, S, Gailhajenet, A, Guitart, M, Ibarria, M, Lafuente, A, Maronas, O, Martin, E, Martinez, M, Marquie, M, Mauleon, A, Moreno, M, Orellana, A, Pancho, A, Peleja, E, Preckler, S, Real, L, Ruiz, A, Saez, M, Serrano-Rios, M, Tarraga, L, Vargas, L, Adarmes-Gomez, A, Alonso, M, Alvarez, V, Amer-Ferrer, G, Antequera, M, Bernal, M, Bullido, M, Burguera, J, Carrillo, F, Carrion-Claro, M, Casajeros, M, Clarimon, J, Cruz-Gamero, J, de Pancorbo, M, Escuela, R, Garrote-Espina, L, Garcia-Alberca, J, Garcia Madrona, S, Garcia-Ribas, G, Gomez-Garre, P, Hevilla, S, Jesus, S, Labrador Espinosa, M, Legaz, A, Lleo, A, Lopez de Munain, A, Macias-Garcia, D, Manzanares, S, Marin, M, Marin-Munoz, J, Marin, T, Martinez, B, Martinez, V, Martinez-Lage Alvarez, P, Medina, M, Mendioroz Iriarte, M, Mir, P, Molinuevo, J, Pastor, P, Perez Tur, J, Perinan-Tocino, T, Pineda-Sanchez, R, Pinol-Ripoll, G, Real de Asua, D, Rodrigo, S, Sanchez del Valle Diaz, R, Sanchez-Juan, P, Sastre, I, Vicente, M, Vigo-Ortega, R, Vivancos, L, Macleod, C, Mccracken, C, Brayne, C, Bresner, C, Grozeva, D, Bellou, E, Sommerville, E, Matthews, F, Leonenko, G, Menzies, G, Windle, G, Harwood, J, Phillips, J, Bennett, K, Luckuck, L, Clare, L, Woods, R, Saad, S, Burholt, V, Kehoe, P, Scheltens, P, Holstege, H, Amouyel, P, Schellenberg, G, Williams, J, Seshadri, S, van Duijn, C, Mather, K, Sanchez-Valle, R, Blennow, K, Huisman, M, Andreassen, O, Posthuma, D, van der Flier, W, Ramirez, A, Lambert, J, van der Lee, S, de Rojas I., Moreno-Grau S., Tesi N., Grenier-Boley B., Andrade V., Jansen I. E., Pedersen N. L., Stringa N., Zettergren A., Hernandez I., Montrreal L., Antunez C., Antonell A., Tankard R. M., Bis J. C., Sims R., Bellenguez C., Quintela I., Gonzalez-Perez A., Calero M., Franco-Macias E., Macias J., Blesa R., Cervera-Carles L., Menendez-Gonzalez M., Frank-Garcia A., Royo J. L., Moreno F., Huerto Vilas R., Baquero M., Diez-Fairen M., Lage C., Garcia-Madrona S., Garcia-Gonzalez P., Alarcon-Martin E., Valero S., Sotolongo-Grau O., Ullgren A., Naj A. C., Lemstra A. W., Benaque A., Perez-Cordon A., Benussi A., Rabano A., Padovani A., Squassina A., de Mendonca A., Arias Pastor A., Kok A. A. L., Meggy A., Pastor A. B., Espinosa A., Corma-Gomez A., Martin Montes A., Sanabria A., DeStefano A. L., Schneider A., Haapasalo A., Kinhult Stahlbom A., Tybjaerg-Hansen A., Hartmann A. M., Spottke A., Corbaton-Anchuelo A., Rongve A., Borroni B., Arosio B., Nacmias B., Nordestgaard B. G., Kunkle B. W., Charbonnier C., Abdelnour C., Masullo C., Martinez Rodriguez C., Munoz-Fernandez C., Dufouil C., Graff C., Ferreira C. B., Chillotti C., Reynolds C. A., Fenoglio C., Van Broeckhoven C., Clark C., Pisanu C., Satizabal C. L., Holmes C., Buiza-Rueda D., Aarsland D., Rujescu D., Alcolea D., Galimberti D., Wallon D., Seripa D., Grunblatt E., Dardiotis E., Duzel E., Scarpini E., Conti E., Rubino E., Gelpi E., Rodriguez-Rodriguez E., Duron E., Boerwinkle E., Ferri E., Tagliavini F., Kucukali F., Pasquier F., Sanchez-Garcia F., Mangialasche F., Jessen F., Nicolas G., Selbaek G., Ortega G., Chene G., Hadjigeorgiou G., Rossi G., Spalletta G., Giaccone G., Grande G., Binetti G., Papenberg G., Hampel H., Bailly H., Zetterberg H., Soininen H., Karlsson I. K., Alvarez I., Appollonio I., Giegling I., Skoog I., Saltvedt I., Rainero I., Rosas Allende I., Hort J., Diehl-Schmid J., Van Dongen J., Vidal J. -S., Lehtisalo J., Wiltfang J., Thomassen J. Q., Kornhuber J., Haines J. L., Vogelgsang J., Pineda J. A., Fortea J., Popp J., Deckert J., Buerger K., Morgan K., Fliessbach K., Sleegers K., Molina-Porcel L., Kilander L., Weinhold L., Farrer L. A., Wang L. -S., Kleineidam L., Farotti L., Parnetti L., Tremolizzo L., Hausner L., Benussi L., Froelich L., Ikram M. A., Deniz-Naranjo M. C., Tsolaki M., Rosende-Roca M., Lowenmark M., Hulsman M., Spallazzi M., Pericak-Vance M. A., Esiri M., Bernal Sanchez-Arjona M., Dalmasso M. C., Martinez-Larrad M. T., Arcaro M., Nothen M. M., Fernandez-Fuertes M., Dichgans M., Ingelsson M., Herrmann M. J., Scherer M., Vyhnalek M., Kosmidis M. H., Yannakoulia M., Schmid M., Ewers M., Heneka M. T., Wagner M., Scamosci M., Kivipelto M., Hiltunen M., Zulaica M., Alegret M., Fornage M., Roberto N., van Schoor N. M., Seidu N. M., Banaj N., Armstrong N. J., Scarmeas N., Scherbaum N., Goldhardt O., Hanon O., Peters O., Skrobot O. A., Quenez O., Lerch O., Bossu P., Caffarra P., Dionigi Rossi P., Sakka P., Mecocci P., Hoffmann P., Holmans P. A., Fischer P., Riederer P., Yang Q., Marshall R., Kalaria R. N., Mayeux R., Vandenberghe R., Cecchetti R., Ghidoni R., Frikke-Schmidt R., Sorbi S., Hagg S., Engelborghs S., Helisalmi S., Botne Sando S., Kern S., Archetti S., Boschi S., Fostinelli S., Gil S., Mendoza S., Mead S., Ciccone S., Djurovic S., Heilmann-Heimbach S., Riedel-Heller S., Kuulasmaa T., del Ser T., Lebouvier T., Polak T., Ngandu T., Grimmer T., Bessi V., Escott-Price V., Giedraitis V., Deramecourt V., Maier W., Jian X., Pijnenburg Y. A. L., Smith A. D., Saenz A., Bizzarro A., Lauria A., Vacca A., Solomon A., Anastasiou A., Richardson A., Boland A., Koivisto A., Daniele A., Greco A., Marianthi A., McGuinness B., Fin B., Ferrari C., Custodero C., Ferrarese C., Ingino C., Mangone C., Reyes Toso C., Martinez C., Cuesta C., Muchnik C., Joachim C., Ortiz C., Besse C., Johansson C., Zoia C. P., Laske C., Anastasiou C., Palacio D. L., Politis D. G., Janowitz D., Craig D., Mann D. M., Neary D., Jurgen D., Daian D., Belezhanska D., Kohler E., Castano E. M., Koutsouraki E., Chipi E., De Roeck E., Costantini E., Vardy E. R. L. C., Piras F., Roveta F., Prestia F. A., Assogna F., Salani F., Sala G., Lacidogna G., Novack G., Wilcock G., Thonberg H., Kolsch H., Weber H., Boecker H., Etchepareborda I., Piaceri I., Tuomilehto J., Lindstrom J., Laczo J., Johnston J., Deleuze J. -F., Harris J., Schott J. M., Priller J., Bacha J. I., Snowden J., Lisso J., Mihova K. Y., Traykov L., Morelli L., Brusco L. I., Rainer M., Takalo M., Bjerke M., Del Zompo M., Serpente M., Sanchez Abalos M., Rios M., Peltonen M., Herrman M. J., Kohler M., Rojo M., Jones M., Orsini M., Medel N., Olivar N., Fox N. C., Salvadori N., Hooper N. M., Galeano P., Solis P., Bastiani P., Passmore P., Heun R., Antikainen R., Olaso R., Perneczky R., Germani S., Lopez-Garcia S., Love S., Mehrabian S., Bagnoli S., Kochen S., Andreoni S., Teipel S., Todd S., Pickering-Brown S., Natunen T., Tegos T., Laatikainen T., Strandberg T., Polvikoski T. M., Matoska V., Ciullo V., Cores V., Solfrizzi V., Lisetti V., Sevillano Z., Aguilera N., Alarcon E., Boada M., Buendia M., Canabate P., Carracedo A., Diego S., Gailhajenet A., Guitart M., Ibarria M., Lafuente A., Maronas O., Martin E., Martinez M. T., Marquie M., Mauleon A., Moreno M., Orellana A., Pancho A., Peleja E., Preckler S., Real L. M., Ruiz A., Saez M. E., Serrano-Rios M., Tarraga L., Vargas L., Adarmes-Gomez A. D., Alonso M. D., Alvarez V., Amer-Ferrer G., Antequera M., Bernal M., Bullido M. J., Burguera J. A., Carrillo F., Carrion-Claro M., Casajeros M. J., Clarimon J., Cruz-Gamero J. M., de Pancorbo M. M., Escuela R., Garrote-Espina L., Garcia-Alberca J. M., Garcia Madrona S., Garcia-Ribas G., Gomez-Garre P., Hevilla S., Jesus S., Labrador Espinosa M. A., Legaz A., Lleo A., Lopez de Munain A., Macias-Garcia D., Manzanares S., Marin M., Marin-Munoz J., Marin T., Martinez B., Martinez V., Martinez-Lage Alvarez P., Medina M., Mendioroz Iriarte M., Mir P., Molinuevo J. L., Pastor P., Perez Tur J., Perinan-Tocino T., Pineda-Sanchez R., Pinol-Ripoll G., Real de Asua D., Rodrigo S., Sanchez del Valle Diaz R., Sanchez-Juan P., Sastre I., Vicente M. P., Vigo-Ortega R., Vivancos L., Macleod C., McCracken C., Brayne C., Bresner C., Grozeva D., Bellou E., Sommerville E. W., Matthews F., Leonenko G., Menzies G., Windle G., Harwood J., Phillips J., Bennett K., Luckuck L., Clare L., Woods R., Saad S., Burholt V., Kehoe P. G., Scheltens P., Holstege H., Amouyel P., Schellenberg G. D., Williams J., Seshadri S., van Duijn C. M., Mather K. A., Sanchez-Valle R., Blennow K., Huisman M., Andreassen O. A., Posthuma D., van der Flier W. M., Ramirez A., Lambert J. -C., van der Lee S. J., de Rojas I., de Rojas, I, Moreno-Grau, S, Tesi, N, Grenier-Boley, B, Andrade, V, Jansen, I, Pedersen, N, Stringa, N, Zettergren, A, Hernandez, I, Montrreal, L, Antunez, C, Antonell, A, Tankard, R, Bis, J, Sims, R, Bellenguez, C, Quintela, I, Gonzalez-Perez, A, Calero, M, Franco-Macias, E, Macias, J, Blesa, R, Cervera-Carles, L, Menendez-Gonzalez, M, Frank-Garcia, A, Royo, J, Moreno, F, Huerto Vilas, R, Baquero, M, Diez-Fairen, M, Lage, C, Garcia-Madrona, S, Garcia-Gonzalez, P, Alarcon-Martin, E, Valero, S, Sotolongo-Grau, O, Ullgren, A, Naj, A, Lemstra, A, Benaque, A, Perez-Cordon, A, Benussi, A, Rabano, A, Padovani, A, Squassina, A, de Mendonca, A, Arias Pastor, A, Kok, A, Meggy, A, Pastor, A, Espinosa, A, Corma-Gomez, A, Martin Montes, A, Sanabria, A, Destefano, A, Schneider, A, Haapasalo, A, Kinhult Stahlbom, A, Tybjaerg-Hansen, A, Hartmann, A, Spottke, A, Corbaton-Anchuelo, A, Rongve, A, Borroni, B, Arosio, B, Nacmias, B, Nordestgaard, B, Kunkle, B, Charbonnier, C, Abdelnour, C, Masullo, C, Martinez Rodriguez, C, Munoz-Fernandez, C, Dufouil, C, Graff, C, Ferreira, C, Chillotti, C, Reynolds, C, Fenoglio, C, Van Broeckhoven, C, Clark, C, Pisanu, C, Satizabal, C, Holmes, C, Buiza-Rueda, D, Aarsland, D, Rujescu, D, Alcolea, D, Galimberti, D, Wallon, D, Seripa, D, Grunblatt, E, Dardiotis, E, Duzel, E, Scarpini, E, Conti, E, Rubino, E, Gelpi, E, Rodriguez-Rodriguez, E, Duron, E, Boerwinkle, E, Ferri, E, Tagliavini, F, Kucukali, F, Pasquier, F, Sanchez-Garcia, F, Mangialasche, F, Jessen, F, Nicolas, G, Selbaek, G, Ortega, G, Chene, G, Hadjigeorgiou, G, Rossi, G, Spalletta, G, Giaccone, G, Grande, G, Binetti, G, Papenberg, G, Hampel, H, Bailly, H, Zetterberg, H, Soininen, H, Karlsson, I, Alvarez, I, Appollonio, I, Giegling, I, Skoog, I, Saltvedt, I, Rainero, I, Rosas Allende, I, Hort, J, Diehl-Schmid, J, Van Dongen, J, Vidal, J, Lehtisalo, J, Wiltfang, J, Thomassen, J, Kornhuber, J, Haines, J, Vogelgsang, J, Pineda, J, Fortea, J, Popp, J, Deckert, J, Buerger, K, Morgan, K, Fliessbach, K, Sleegers, K, Molina-Porcel, L, Kilander, L, Weinhold, L, Farrer, L, Wang, L, Kleineidam, L, Farotti, L, Parnetti, L, Tremolizzo, L, Hausner, L, Benussi, L, Froelich, L, Ikram, M, Deniz-Naranjo, M, Tsolaki, M, Rosende-Roca, M, Lowenmark, M, Hulsman, M, Spallazzi, M, Pericak-Vance, M, Esiri, M, Bernal Sanchez-Arjona, M, Dalmasso, M, Martinez-Larrad, M, Arcaro, M, Nothen, M, Fernandez-Fuertes, M, Dichgans, M, Ingelsson, M, Herrmann, M, Scherer, M, Vyhnalek, M, Kosmidis, M, Yannakoulia, M, Schmid, M, Ewers, M, Heneka, M, Wagner, M, Scamosci, M, Kivipelto, M, Hiltunen, M, Zulaica, M, Alegret, M, Fornage, M, Roberto, N, van Schoor, N, Seidu, N, Banaj, N, Armstrong, N, Scarmeas, N, Scherbaum, N, Goldhardt, O, Hanon, O, Peters, O, Skrobot, O, Quenez, O, Lerch, O, Bossu, P, Caffarra, P, Dionigi Rossi, P, Sakka, P, Mecocci, P, Hoffmann, P, Holmans, P, Fischer, P, Riederer, P, Yang, Q, Marshall, R, Kalaria, R, Mayeux, R, Vandenberghe, R, Cecchetti, R, Ghidoni, R, Frikke-Schmidt, R, Sorbi, S, Hagg, S, Engelborghs, S, Helisalmi, S, Botne Sando, S, Kern, S, Archetti, S, Boschi, S, Fostinelli, S, Gil, S, Mendoza, S, Mead, S, Ciccone, S, Djurovic, S, Heilmann-Heimbach, S, Riedel-Heller, S, Kuulasmaa, T, del Ser, T, Lebouvier, T, Polak, T, Ngandu, T, Grimmer, T, Bessi, V, Escott-Price, V, Giedraitis, V, Deramecourt, V, Maier, W, Jian, X, Pijnenburg, Y, Smith, A, Saenz, A, Bizzarro, A, Lauria, A, Vacca, A, Solomon, A, Anastasiou, A, Richardson, A, Boland, A, Koivisto, A, Daniele, A, Greco, A, Marianthi, A, Mcguinness, B, Fin, B, Ferrari, C, Custodero, C, Ferrarese, C, Ingino, C, Mangone, C, Reyes Toso, C, Martinez, C, Cuesta, C, Muchnik, C, Joachim, C, Ortiz, C, Besse, C, Johansson, C, Zoia, C, Laske, C, Anastasiou, C, Palacio, D, Politis, D, Janowitz, D, Craig, D, Mann, D, Neary, D, Jurgen, D, Daian, D, Belezhanska, D, Kohler, E, Castano, E, Koutsouraki, E, Chipi, E, De Roeck, E, Costantini, E, Vardy, E, Piras, F, Roveta, F, Prestia, F, Assogna, F, Salani, F, Sala, G, Lacidogna, G, Novack, G, Wilcock, G, Thonberg, H, Kolsch, H, Weber, H, Boecker, H, Etchepareborda, I, Piaceri, I, Tuomilehto, J, Lindstrom, J, Laczo, J, Johnston, J, Deleuze, J, Harris, J, Schott, J, Priller, J, Bacha, J, Snowden, J, Lisso, J, Mihova, K, Traykov, L, Morelli, L, Brusco, L, Rainer, M, Takalo, M, Bjerke, M, Del Zompo, M, Serpente, M, Sanchez Abalos, M, Rios, M, Peltonen, M, Herrman, M, Kohler, M, Rojo, M, Jones, M, Orsini, M, Medel, N, Olivar, N, Fox, N, Salvadori, N, Hooper, N, Galeano, P, Solis, P, Bastiani, P, Passmore, P, Heun, R, Antikainen, R, Olaso, R, Perneczky, R, Germani, S, Lopez-Garcia, S, Love, S, Mehrabian, S, Bagnoli, S, Kochen, S, Andreoni, S, Teipel, S, Todd, S, Pickering-Brown, S, Natunen, T, Tegos, T, Laatikainen, T, Strandberg, T, Polvikoski, T, Matoska, V, Ciullo, V, Cores, V, Solfrizzi, V, Lisetti, V, Sevillano, Z, Aguilera, N, Alarcon, E, Boada, M, Buendia, M, Canabate, P, Carracedo, A, Diego, S, Gailhajenet, A, Guitart, M, Ibarria, M, Lafuente, A, Maronas, O, Martin, E, Martinez, M, Marquie, M, Mauleon, A, Moreno, M, Orellana, A, Pancho, A, Peleja, E, Preckler, S, Real, L, Ruiz, A, Saez, M, Serrano-Rios, M, Tarraga, L, Vargas, L, Adarmes-Gomez, A, Alonso, M, Alvarez, V, Amer-Ferrer, G, Antequera, M, Bernal, M, Bullido, M, Burguera, J, Carrillo, F, Carrion-Claro, M, Casajeros, M, Clarimon, J, Cruz-Gamero, J, de Pancorbo, M, Escuela, R, Garrote-Espina, L, Garcia-Alberca, J, Garcia Madrona, S, Garcia-Ribas, G, Gomez-Garre, P, Hevilla, S, Jesus, S, Labrador Espinosa, M, Legaz, A, Lleo, A, Lopez de Munain, A, Macias-Garcia, D, Manzanares, S, Marin, M, Marin-Munoz, J, Marin, T, Martinez, B, Martinez, V, Martinez-Lage Alvarez, P, Medina, M, Mendioroz Iriarte, M, Mir, P, Molinuevo, J, Pastor, P, Perez Tur, J, Perinan-Tocino, T, Pineda-Sanchez, R, Pinol-Ripoll, G, Real de Asua, D, Rodrigo, S, Sanchez del Valle Diaz, R, Sanchez-Juan, P, Sastre, I, Vicente, M, Vigo-Ortega, R, Vivancos, L, Macleod, C, Mccracken, C, Brayne, C, Bresner, C, Grozeva, D, Bellou, E, Sommerville, E, Matthews, F, Leonenko, G, Menzies, G, Windle, G, Harwood, J, Phillips, J, Bennett, K, Luckuck, L, Clare, L, Woods, R, Saad, S, Burholt, V, Kehoe, P, Scheltens, P, Holstege, H, Amouyel, P, Schellenberg, G, Williams, J, Seshadri, S, van Duijn, C, Mather, K, Sanchez-Valle, R, Blennow, K, Huisman, M, Andreassen, O, Posthuma, D, van der Flier, W, Ramirez, A, Lambert, J, van der Lee, S, de Rojas I., Moreno-Grau S., Tesi N., Grenier-Boley B., Andrade V., Jansen I. E., Pedersen N. L., Stringa N., Zettergren A., Hernandez I., Montrreal L., Antunez C., Antonell A., Tankard R. M., Bis J. C., Sims R., Bellenguez C., Quintela I., Gonzalez-Perez A., Calero M., Franco-Macias E., Macias J., Blesa R., Cervera-Carles L., Menendez-Gonzalez M., Frank-Garcia A., Royo J. L., Moreno F., Huerto Vilas R., Baquero M., Diez-Fairen M., Lage C., Garcia-Madrona S., Garcia-Gonzalez P., Alarcon-Martin E., Valero S., Sotolongo-Grau O., Ullgren A., Naj A. C., Lemstra A. W., Benaque A., Perez-Cordon A., Benussi A., Rabano A., Padovani A., Squassina A., de Mendonca A., Arias Pastor A., Kok A. A. L., Meggy A., Pastor A. B., Espinosa A., Corma-Gomez A., Martin Montes A., Sanabria A., DeStefano A. L., Schneider A., Haapasalo A., Kinhult Stahlbom A., Tybjaerg-Hansen A., Hartmann A. M., Spottke A., Corbaton-Anchuelo A., Rongve A., Borroni B., Arosio B., Nacmias B., Nordestgaard B. G., Kunkle B. W., Charbonnier C., Abdelnour C., Masullo C., Martinez Rodriguez C., Munoz-Fernandez C., Dufouil C., Graff C., Ferreira C. B., Chillotti C., Reynolds C. A., Fenoglio C., Van Broeckhoven C., Clark C., Pisanu C., Satizabal C. L., Holmes C., Buiza-Rueda D., Aarsland D., Rujescu D., Alcolea D., Galimberti D., Wallon D., Seripa D., Grunblatt E., Dardiotis E., Duzel E., Scarpini E., Conti E., Rubino E., Gelpi E., Rodriguez-Rodriguez E., Duron E., Boerwinkle E., Ferri E., Tagliavini F., Kucukali F., Pasquier F., Sanchez-Garcia F., Mangialasche F., Jessen F., Nicolas G., Selbaek G., Ortega G., Chene G., Hadjigeorgiou G., Rossi G., Spalletta G., Giaccone G., Grande G., Binetti G., Papenberg G., Hampel H., Bailly H., Zetterberg H., Soininen H., Karlsson I. K., Alvarez I., Appollonio I., Giegling I., Skoog I., Saltvedt I., Rainero I., Rosas Allende I., Hort J., Diehl-Schmid J., Van Dongen J., Vidal J. -S., Lehtisalo J., Wiltfang J., Thomassen J. Q., Kornhuber J., Haines J. L., Vogelgsang J., Pineda J. A., Fortea J., Popp J., Deckert J., Buerger K., Morgan K., Fliessbach K., Sleegers K., Molina-Porcel L., Kilander L., Weinhold L., Farrer L. A., Wang L. -S., Kleineidam L., Farotti L., Parnetti L., Tremolizzo L., Hausner L., Benussi L., Froelich L., Ikram M. A., Deniz-Naranjo M. C., Tsolaki M., Rosende-Roca M., Lowenmark M., Hulsman M., Spallazzi M., Pericak-Vance M. A., Esiri M., Bernal Sanchez-Arjona M., Dalmasso M. C., Martinez-Larrad M. T., Arcaro M., Nothen M. M., Fernandez-Fuertes M., Dichgans M., Ingelsson M., Herrmann M. J., Scherer M., Vyhnalek M., Kosmidis M. H., Yannakoulia M., Schmid M., Ewers M., Heneka M. T., Wagner M., Scamosci M., Kivipelto M., Hiltunen M., Zulaica M., Alegret M., Fornage M., Roberto N., van Schoor N. M., Seidu N. M., Banaj N., Armstrong N. J., Scarmeas N., Scherbaum N., Goldhardt O., Hanon O., Peters O., Skrobot O. A., Quenez O., Lerch O., Bossu P., Caffarra P., Dionigi Rossi P., Sakka P., Mecocci P., Hoffmann P., Holmans P. A., Fischer P., Riederer P., Yang Q., Marshall R., Kalaria R. N., Mayeux R., Vandenberghe R., Cecchetti R., Ghidoni R., Frikke-Schmidt R., Sorbi S., Hagg S., Engelborghs S., Helisalmi S., Botne Sando S., Kern S., Archetti S., Boschi S., Fostinelli S., Gil S., Mendoza S., Mead S., Ciccone S., Djurovic S., Heilmann-Heimbach S., Riedel-Heller S., Kuulasmaa T., del Ser T., Lebouvier T., Polak T., Ngandu T., Grimmer T., Bessi V., Escott-Price V., Giedraitis V., Deramecourt V., Maier W., Jian X., Pijnenburg Y. A. L., Smith A. D., Saenz A., Bizzarro A., Lauria A., Vacca A., Solomon A., Anastasiou A., Richardson A., Boland A., Koivisto A., Daniele A., Greco A., Marianthi A., McGuinness B., Fin B., Ferrari C., Custodero C., Ferrarese C., Ingino C., Mangone C., Reyes Toso C., Martinez C., Cuesta C., Muchnik C., Joachim C., Ortiz C., Besse C., Johansson C., Zoia C. P., Laske C., Anastasiou C., Palacio D. L., Politis D. G., Janowitz D., Craig D., Mann D. M., Neary D., Jurgen D., Daian D., Belezhanska D., Kohler E., Castano E. M., Koutsouraki E., Chipi E., De Roeck E., Costantini E., Vardy E. R. L. C., Piras F., Roveta F., Prestia F. A., Assogna F., Salani F., Sala G., Lacidogna G., Novack G., Wilcock G., Thonberg H., Kolsch H., Weber H., Boecker H., Etchepareborda I., Piaceri I., Tuomilehto J., Lindstrom J., Laczo J., Johnston J., Deleuze J. -F., Harris J., Schott J. M., Priller J., Bacha J. I., Snowden J., Lisso J., Mihova K. Y., Traykov L., Morelli L., Brusco L. I., Rainer M., Takalo M., Bjerke M., Del Zompo M., Serpente M., Sanchez Abalos M., Rios M., Peltonen M., Herrman M. J., Kohler M., Rojo M., Jones M., Orsini M., Medel N., Olivar N., Fox N. C., Salvadori N., Hooper N. M., Galeano P., Solis P., Bastiani P., Passmore P., Heun R., Antikainen R., Olaso R., Perneczky R., Germani S., Lopez-Garcia S., Love S., Mehrabian S., Bagnoli S., Kochen S., Andreoni S., Teipel S., Todd S., Pickering-Brown S., Natunen T., Tegos T., Laatikainen T., Strandberg T., Polvikoski T. M., Matoska V., Ciullo V., Cores V., Solfrizzi V., Lisetti V., Sevillano Z., Aguilera N., Alarcon E., Boada M., Buendia M., Canabate P., Carracedo A., Diego S., Gailhajenet A., Guitart M., Ibarria M., Lafuente A., Maronas O., Martin E., Martinez M. T., Marquie M., Mauleon A., Moreno M., Orellana A., Pancho A., Peleja E., Preckler S., Real L. M., Ruiz A., Saez M. E., Serrano-Rios M., Tarraga L., Vargas L., Adarmes-Gomez A. D., Alonso M. D., Alvarez V., Amer-Ferrer G., Antequera M., Bernal M., Bullido M. J., Burguera J. A., Carrillo F., Carrion-Claro M., Casajeros M. J., Clarimon J., Cruz-Gamero J. M., de Pancorbo M. M., Escuela R., Garrote-Espina L., Garcia-Alberca J. M., Garcia Madrona S., Garcia-Ribas G., Gomez-Garre P., Hevilla S., Jesus S., Labrador Espinosa M. A., Legaz A., Lleo A., Lopez de Munain A., Macias-Garcia D., Manzanares S., Marin M., Marin-Munoz J., Marin T., Martinez B., Martinez V., Martinez-Lage Alvarez P., Medina M., Mendioroz Iriarte M., Mir P., Molinuevo J. L., Pastor P., Perez Tur J., Perinan-Tocino T., Pineda-Sanchez R., Pinol-Ripoll G., Real de Asua D., Rodrigo S., Sanchez del Valle Diaz R., Sanchez-Juan P., Sastre I., Vicente M. P., Vigo-Ortega R., Vivancos L., Macleod C., McCracken C., Brayne C., Bresner C., Grozeva D., Bellou E., Sommerville E. W., Matthews F., Leonenko G., Menzies G., Windle G., Harwood J., Phillips J., Bennett K., Luckuck L., Clare L., Woods R., Saad S., Burholt V., Kehoe P. G., Scheltens P., Holstege H., Amouyel P., Schellenberg G. D., Williams J., Seshadri S., van Duijn C. M., Mather K. A., Sanchez-Valle R., Blennow K., Huisman M., Andreassen O. A., Posthuma D., van der Flier W. M., Ramirez A., Lambert J. -C., and van der Lee S. J.
- Abstract
The original version of this Article omitted from the author list the 212th author Patrizia Mecocci, who is from the Institute of Gerontology and Geriatrics, Department of Medicine, University of Perugia, Perugia, Italy. Consequently, the “Sample Contribution” section of Author Contributions was updated to add “P.M” between “P.D.” and “R.C.”. Additionally, the original version of this Article contained the incorrect affiliation for author Patrick Gavin Kehoe, which incorrectly read “German Center for Neurodegenerative Diseases (DZNE), Berlin, Germany”. The correct version replaces this affiliation with “Bristol Medical School (THS), University of Bristol, Southmead Hospital, Bristol, UK”. This has been corrected in both the PDF and HTML versions of the Article.
- Published
- 2023
8. New insights into the genetic etiology of Alzheimer's disease and related dementias
- Author
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Uitterlinden, A, Ullgren, A, Ulstein, I, Valero, S, Valladares, O, Broeckhoven, C, Vance, J, Vardarajan, B, van der Lugt, A, Dongen, J, van Rooij, J, van Swieten, J, Vandenberghe, R, Verhey, F, Vidal, J, Vogelgsang, J, Vyhnalek, M, Wagner, M, Wallon, D, Wang, L, Wang, R, Weinhold, L, Wiltfang, J, Windle, G, Woods, B, Yannakoulia, M, Zare, H, Zhao, Y, Zhang, X, Zhu, C, Zulaica, M, Andreoni, S, Ferrarese, C, Sala, G, Zoia, C, Farrer, L, Psaty, B, Ghanbari, M, Raj, T, Sachdev, P, Mather, K, Jessen, F, Ikram, M, de Mendonça, A, Hort, J, Tsolaki, M, Pericak-Vance, M, Amouyel, P, Williams, J, Frikke-Schmidt, R, Clarimon, J, Deleuze, J, Rossi, G, Seshadri, S, Andreassen, O, Ingelsson, M, Hiltunen, M, Sleegers, K, Schellenberg, G, van Duijn, C, Sims, R, van der Flier, W, Ruiz, A, Ramirez, A, Lambert, J, VU University medical center, Amsterdam Neuroscience - Neurodegeneration, Neurology, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, APH - Personalized Medicine, APH - Methodology, Bellenguez, Céline [0000-0002-1240-7874], Küçükali, Fahri [0000-0002-3835-9639], Amin, Najaf [0000-0002-8944-1771], Holmans, Peter A [0000-0003-0870-9412], van der Lee, Sven J [0000-0003-1606-8643], Costa, Marcos R [0000-0002-4928-2163], Kuulasmaa, Teemu [0000-0002-1795-7314], Yang, Qiong [0000-0002-3658-1375], de Rojas, Itziar [0000-0002-2148-381X], Bis, Joshua C [0000-0002-3409-1110], Yaqub, Amber [0000-0002-3579-8054], Prokic, Ivana [0000-0002-0370-1473], Chapuis, Julien [0000-0002-5802-2857], Ahmad, Shahzad [0000-0002-8658-3790], Giedraitis, Vilmantas [0000-0003-3423-2021], Garcia-Gonzalez, Pablo [0000-0003-0125-5403], Alcolea, Daniel [0000-0002-3819-3245], Alvarez, Ignacio [0000-0002-8537-3935], Tsolaki, Anthoula [0000-0002-5563-7776], Baquero, Miquel [0000-0002-6861-1831], Pastor, Ana Belén [0000-0001-9637-4688], Berr, Claudine [0000-0001-5254-7655], Bessi, Valentina [0000-0002-6176-3584], Boada, Mercè [0000-0003-2617-3009], Bossù, Paola [0000-0002-1432-0078], Bråthen, Geir [0000-0003-3224-7983], Bressler, Jan [0000-0001-6578-4772], Bresner, Catherine [0000-0003-2673-9762], Brodaty, Henry [0000-0001-9487-6617], Brookes, Keeley J [0000-0003-2427-2513], Burholt, Vanessa [0000-0002-6789-127X], Bush, William S [0000-0002-9729-6519], Calero, Miguel [0000-0001-5366-3324], Chung, Jaeyoon [0000-0002-6431-9454], Cervera-Carles, Laura [0000-0003-2286-200X], Costantini, Emanuele [0000-0002-1096-8221], Dalmasso, Maria Carolina [0000-0002-4901-9955], de Paiva Lopes, Katia [0000-0002-0240-0126], de Witte, Lot D [0000-0002-7235-9958], Debette, Stéphanie [0000-0001-8675-7968], Del Ser, Teodoro [0000-0001-9806-7083], Dichgans, Martin [0000-0002-0654-387X], Diehl-Schmid, Janine [0000-0002-7745-1382], Diez-Fairen, Mónica [0000-0003-1882-0309], Djurovic, Srdjan [0000-0002-8140-8061], Dufouil, Carole [0000-0003-2442-4476], Escott-Price, Valentina [0000-0003-1784-5483], Ewers, Michael [0000-0001-5231-1714], Fabrizio, Tagliavini [0000-0003-1039-7315], Fladby, Tormod [0000-0002-9984-9797], Fornage, Myriam [0000-0003-0677-8158], Fox, Nick C [0000-0002-6660-657X], Bullido, María J [0000-0002-6477-1117], Froelich, Lutz [0000-0003-1494-0813], Galimberti, Daniela [0000-0002-9284-5953], García-Alberca, Jose Maria [0000-0003-2951-6644], Goate, Alison M [0000-0002-0576-2472], González-Pérez, Antonio [0000-0001-9771-5982], Green, Emma [0000-0002-8687-5590], Grünblatt, Edna [0000-0001-8505-7265], Gudnason, Vilmundur [0000-0001-5696-0084], Haapasalo, Annakaisa [0000-0003-0959-2957], Harwood, Janet [0000-0002-3225-0069], Heilmann-Heimbach, Stefanie [0000-0003-1057-465X], Herrmann, Martin J [0000-0001-9970-2122], Holstege, Henne [0000-0002-7688-3087], Biessels, Geert Jan [0000-0001-6862-2496], Jian, Xueqiu [0000-0002-0313-6494], Johansson, Charlotte [0000-0002-5351-1950], Jun, Gyungah R [0000-0002-3230-8697], Kastumata, Yuriko [0000-0002-0188-8094], Kehoe, Patrick G [0000-0002-7542-1139], Kornhuber, Johannes [0000-0002-8096-3987], Kosmidis, Mary H [0000-0001-8790-1220], Lage, Carmen [0000-0003-1703-121X], Launer, Lenore [0000-0002-3238-7612], Lee, Chien-Yueh [0000-0002-4304-974X], Lleó, Alberto [0000-0002-2568-5478], Lopez, Oscar [0000-0002-8546-8256], de Munain, Adolfo Lopez [0000-0002-9509-4032], Lunetta, Kathryn L [0000-0002-9268-810X], Ma, Yiyi [0000-0002-3609-8877], MacLeod, Catherine A [0000-0002-9314-7380], Marquié, Marta [0000-0002-0660-0950], Montes, Angel Martín [0000-0002-1694-786X], Mead, Simon [0000-0002-4326-1468], Medina, Miguel [0000-0002-7016-5340], Menéndez-González, Manuel [0000-0002-5218-0774], Mol, Merel [0000-0003-2533-2530], Morgan, Kevin [0000-0002-8217-2396], Nöthen, Markus M [0000-0002-8770-2464], Muchnik, Carolina [0000-0002-1542-3706], Nacmias, Benedetta [0000-0001-9338-9040], Nicolas, Gael [0000-0001-9391-7800], Nordestgaard, Børge G [0000-0002-1954-7220], Pasquier, Florence [0000-0001-9880-9788], Pastor, Pau [0000-0002-7493-8777], Peloso, Gina [0000-0002-5355-8636], Pérez-Cordón, Alba [0000-0002-6028-0791], Pérez-Tur, Jordi [0000-0002-9111-1712], Pericard, Pierre [0000-0001-8167-6448], Pineda, Juan A [0000-0002-3751-0296], Pisanu, Claudia [0000-0002-9151-4319], Posthuma, Danielle [0000-0001-7582-2365], Puerta, Raquel [0000-0002-1191-5893], Quenez, Olivier [0000-0002-8273-8505], Thomassen, Jesper Qvist [0000-0003-3484-9531], Real, Luis M [0000-0003-4932-7429], Reinders, Marcel JT [0000-0002-1148-1562], Reitz, Christiane [0000-0001-8757-7889], Riedel-Heller, Steffi [0000-0003-4321-6090], Rodriguez-Rodriguez, Eloy [0000-0001-7742-677X], Rongve, Arvid [0000-0002-0476-4134], Sáez, María Eugenia [0000-0001-9299-2534], Saltvedt, Ingvild [0000-0002-7897-9808], Juan, Pascual Sánchez [0000-0002-6081-8037], Sarnowski, Chloé [0000-0002-6090-7099], Satizabal, Claudia L [0000-0002-1115-4430], Schott, Jonathan M [0000-0003-2059-024X], Selbæk, Geir [0000-0001-6511-8219], Shadrin, Alexey A [0000-0002-7467-250X], Soininen, Hilkka [0000-0002-2785-9937], Solfrizzi, Vincenzo [0000-0002-8524-0315], Song, Yeunjoo [0000-0002-7452-3731], Sotolongo-Grau, Oscar [0000-0002-9679-0670], Spalletta, Gianfranco [0000-0002-7432-4249], Squassina, Alessio [0000-0001-7415-7607], Stordal, Eystein [0000-0002-2443-7923], Tosto, Giuseppe [0000-0001-7075-8245], Uitterlinden, Andre [0000-0002-7276-3387], Valladares, Otto [0000-0001-8055-2187], Broeckhoven, Christine Van [0000-0003-0183-7665], Vidal, Jean-Sébastien [0000-0001-6770-0720], Vogelgsang, Jonathan [0000-0001-9326-8193], Wagner, Michael [0000-0003-2589-6440], Wallon, David [0000-0002-2634-7198], Wiltfang, Jens [0000-0003-1492-5330], Woods, Bob [0000-0002-6781-651X], Yannakoulia, Mary [0000-0003-2171-7337], Zare, Habil [0000-0001-5902-6238], Zhang, Xiaoling [0000-0001-8237-1857], Farrer, Lindsay A [0000-0001-5533-4225], Psaty, Bruce M [0000-0002-7278-2190], Ghanbari, Mohsen [0000-0002-9476-7143], Raj, Towfique [0000-0002-9355-5704], Sachdev, Perminder [0000-0002-9595-3220], Mather, Karen [0000-0003-4143-8941], Ikram, M Arfan [0000-0003-0372-8585], Tsolaki, Magda [0000-0002-2072-8010], Pericak-Vance, Margaret A [0000-0001-7283-8804], Amouyel, Philippe [0000-0001-9088-234X], Williams, Julie [0000-0002-4069-0259], Frikke-Schmidt, Ruth [0000-0003-4084-5027], Seshadri, Sudha [0000-0001-6135-2622], Andreassen, Ole A [0000-0002-4461-3568], Sleegers, Kristel [0000-0002-0283-2332], van Duijn, Cornelia M [0000-0002-2374-9204], Sims, Rebecca [0000-0002-3885-1199], van der Flier, Wiesje M [0000-0001-8766-6224], Ramirez, Alfredo [0000-0003-4991-763X], Lambert, Jean-Charles [0000-0003-0829-7817], Apollo - University of Cambridge Repository, Complex Trait Genetics, Clinical sciences, Neuroprotection & Neuromodulation, Pathologic Biochemistry and Physiology, Clinical Biology, Epidemiology, Internal Medicine, Psychiatrie & Neuropsychologie, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: MA Med Staf Spec Psychiatrie (9), UAM. Departamento de Biología Molecular, University of Helsinki, Department of Neurosciences, HUS Internal Medicine and Rehabilitation, Timo Strandberg / Principal Investigator, Department of Medicine, Clinicum, HUS Neurocenter, Neurologian yksikkö, Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Institut Pasteur, Institut National de la Santé et de la Recherche Médicale (France), European Commission, LabEx DISTALZ, Pérez-Tur, Jordi, University Children’s Hospital Basel (Suiza), INSERM (Francia), Lille Métropole Communauté Urbaine, Government of France (Francia), EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC, CHARGE, Holmans, Peter A. [0000-0003-0870-9412], van der Lee, Sven J. [0000-0003-1606-8643], Costa, Marcos R. [0000-0002-4928-2163], Bis, Joshua C. [0000-0002-3409-1110], Brookes, Keeley J. [0000-0003-2427-2513], Bush, William S. [0000-0002-9729-6519], de Witte, Lot D. [0000-0002-7235-9958], del Ser, Teodoro [0000-0001-9806-7083], Fox, Nick C. [0000-0002-6660-657X], Bullido, María J. [0000-0002-6477-1117], Goate, Alison M. [0000-0002-0576-2472], Herrmann, Martin J. [0000-0001-9970-2122], Jun, Gyungah R. [0000-0002-3230-8697], Kehoe, Patrick G. [0000-0002-7542-1139], Kosmidis, Mary H. [0000-0001-8790-1220], Lunetta, Kathryn L. [0000-0002-9268-810X], MacLeod, Catherine A. [0000-0002-9314-7380], Nöthen, Markus M. [0000-0002-8770-2464], Nordestgaard, Børge G. [0000-0002-1954-7220], Pineda, Juan A. [0000-0002-3751-0296], Real, Luis M. [0000-0003-4932-7429], Reinders, Marcel J. T. [0000-0002-1148-1562], Satizabal, Claudia L. [0000-0002-1115-4430], Schott, Jonathan M. [0000-0003-2059-024X], Shadrin, Alexey A. [0000-0002-7467-250X], Farrer, Lindsay A. [0000-0001-5533-4225], Psaty, Bruce M. [0000-0002-7278-2190], Ikram, M. Arfan [0000-0003-0372-8585], Pericak-Vance, Margaret A. [0000-0001-7283-8804], Andreassen, Ole A. [0000-0002-4461-3568], van Duijn, Cornelia M. [0000-0002-2374-9204], van der Flier, Wiesje M. [0000-0001-8766-6224], and Molecular Neuroscience and Ageing Research (MOLAR)
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tau Proteins/genetics ,Alzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1] ,Neurologi ,MED/03 - GENETICA MEDICA ,45/43 ,Medizin ,Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13] ,genetics [Alzheimer Disease] ,Genome-Wide Association Study ,Humans ,tau Proteins ,Alzheimer Disease ,Cognitive Dysfunction ,VARIANTS ,pathology [Alzheimer Disease] ,Tau Proteins ,Settore BIO/13 - Biologia Applicata ,Cognitive Dysfunction/psychology ,692/699/375/365/1283 ,IMPUTATION ,article ,1184 Genetics, developmental biology, physiology ,Biología y Biomedicina / Biología ,AMYLOID-BETA ,Settore MED/26 - NEUROLOGIA ,Neurology ,psychology [Cognitive Dysfunction] ,Medical Genetics ,Human ,Neuroscience(all) ,631/208/205/2138 ,All institutes and research themes of the Radboud University Medical Center ,SDG 3 - Good Health and Well-being ,ddc:570 ,Genetics ,Genetic Predisposition to Disease ,GENOME-WIDE ASSOCIATION ,METAANALYSIS ,Medicinsk genetik ,MED/26 - NEUROLOGIA ,Alzheimer Disease/genetics ,neurology ,tau Protein ,NECROSIS-FACTOR-ALPHA ,RISK LOCI ,genetics [tau Proteins] ,PREDICTION MODELS ,Human medicine ,GENERATION ,RESPONSES - Abstract
25 páginas, 6 figuras, 2 tablas, Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele., This work was funded by a grant (EADB) from the EU Joint Programme – Neurodegenerative Disease Research. INSERM UMR1167 is also funded by the INSERM, Institut Pasteur de Lille, Lille Métropole Communauté Urbaine and French government’s LABEX DISTALZ program (development of innovative strategies for a transdisciplinary approach to AD). Full consortium acknowledgements and funding are in the Supplementary Not
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- 2022
9. An Epigenetic Mouse Model for Molecular and Behavioral Neuropathologies Related to Schizophrenia Vulnerability
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Tremolizzo, L., Carboni, G., Ruzicka, W. B., Mitchell, C. P., Sugaya, I., Tueting, P., Sharma, R., Grayson, D. R., Costa, E., and Guidotti, A.
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- 2002
10. Plasma and cerebrospinal fluid cholesterol esterification is hampered in Alzheimer's disease
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Turri M., Conti E., Pavanello C., Gastoldi F., Palumbo M., Bernini F., Aprea V., Re F., Barbiroli A., Emide D., Galimberti D., Tremolizzo L., Zimetti F., Calabresi L., Andreoni S., Appollonio I., Da Re F., Ferrarese C., Karantzoulis A., Negro G., Pozzi F. E., Remoli G., Storti B., Zoia C. P., Turri, M, Conti, E, Pavanello, C, Gastoldi, F, Palumbo, M, Bernini, F, Aprea, V, Re, F, Barbiroli, A, Emide, D, Galimberti, D, Tremolizzo, L, Zimetti, F, Calabresi, L, Andreoni, S, Appollonio, I, Da Re, F, Ferrarese, C, Karantzoulis, A, Negro, G, Pozzi, F, Remoli, G, Storti, B, and Zoia, C
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MED/26 - NEUROLOGIA ,High-density lipoprotein ,Apolipoprotein E ,Cholesterol efflux ,Lecithin:cholesterol acyltransferase ,Alzheimer’s disease - Abstract
Objective: The purpose of this study was to evaluate cholesterol esterification and HDL subclasses in plasma and cerebrospinal fluid (CSF) of Alzheimer’s disease (AD) patients. Methods: The study enrolled 70 AD patients and 74 cognitively normal controls comparable for age and sex. Lipoprotein profile, cholesterol esterification, and cholesterol efflux capacity (CEC) were evaluated in plasma and CSF. Results: AD patients have normal plasma lipids but significantly reduced unesterified cholesterol and unesterified/total cholesterol ratio. Lecithin:cholesterol acyltransferase (LCAT) activity and cholesterol esterification rate (CER), two measures of the efficiency of the esterification process, were reduced by 29% and 16%, respectively, in the plasma of AD patients. Plasma HDL subclass distribution in AD patients was comparable to that of controls but the content of small discoidal preβ-HDL particles was significantly reduced. In agreement with the reduced preβ-HDL particles, cholesterol efflux capacity mediated by the transporters ABCA1 and ABCG1 was reduced in AD patients’ plasma. The CSF unesterified to total cholesterol ratio was increased in AD patients, and CSF CER and CEC from astrocytes were significantly reduced in AD patients. In the AD group, a significant positive correlation was observed between plasma unesterified cholesterol and unesterified/total cholesterol ratio with Aβ1-42 CSF content. Conclusion: Taken together our data indicate that cholesterol esterification is hampered in plasma and CSF of AD patients and that plasma cholesterol esterification biomarkers (unesterified cholesterol and unesterified/total cholesterol ratio) are significantly associated to disease biomarkers (i.e., CSF Aβ1-42).
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- 2023
11. Predictors of response to acetylcholinesterase inhibitors in dementia: A systematic review
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Pozzi, F, Conti, E, Appollonio, I, Ferrarese, C, Tremolizzo, L, Pozzi F. E., Conti E., Appollonio I., Ferrarese C., Tremolizzo L., Pozzi, F, Conti, E, Appollonio, I, Ferrarese, C, Tremolizzo, L, Pozzi F. E., Conti E., Appollonio I., Ferrarese C., and Tremolizzo L.
- Abstract
Background :The mainstay of therapy for many neurodegenerative dementias still relies on acetylcholinesterase inhibitors (AChEI); however, there is debate on various aspects of such treatment. A huge body of literature exists on possible predictors of response, but a comprehensive review is lacking. Therefore, our aim is to perform a systematic review of the predictors of response to AChEI in neurodegenerative dementias, providing a categorization and interpretation of the results. Methods: We conducted a systematic review of the literature up to December 31, 2021, searching five different databases and registers, including studies on rivastigmine, donepezil, and galantamine, with clearly defined criteria for the diagnosis of dementia and the response to AChEI therapy. Records were identified through the string: predict AND respon AND (acetylcholinesterase inhibitors OR donepezil OR rivastigmine OR galantamine). The results were presented narratively. Results: We identified 1,994 records in five different databases; after exclusion of duplicates, title and abstract screening, and full-text retrieval, 122 studies were finally included. Discussion: The studies show high heterogeneity in duration, response definition, drug dosage, and diagnostic criteria. Response to AChEI seems associated with correlates of cholinergic deficit (hallucinations, fluctuating cognition, substantia innominate atrophy) and preserved cholinergic neurons (faster alpha on REM sleep EEG, increased anterior frontal and parietal lobe perfusion after donepezil); white matter hyperintensities in the cholinergic pathways have shown inconsistent results. The K-variant of butyrylcholinesterase may correlate with better response in late stages of disease, while the role of polymorphisms in other genes involved in the cholinergic system is controversial. Factors related to drug availability may influence response; in particular, low serum albumin (for donepezil), CYP2D6 variants associated with reduced
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- 2022
12. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)
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van Rheenen W., van Rheenen, W, van der Spek, R, Bakker, M, van Vugt, J, Hop, P, Zwamborn, R, de Klein, N, Westra, H, Bakker, O, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, A, Gawor, K, Westeneng, H, Tazelaar, G, van Eijk, K, Kooyman, M, Byrne, R, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, B, Gromicho, M, Chandran, S, Pal, S, Morrison, K, Shaw, P, Hardy, J, Orrell, R, Sendtner, M, Meyer, T, Basak, N, van der Kooi, A, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, D'Alfonso, S, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, R, Bell, S, Vourc'H, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Mora Pardina, J, Assialioui, A, Rojas-Garcia, R, Dion, P, Ross, J, Ludolph, A, Weishaupt, J, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, C, Saker-Delye, S, Wood, N, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, D, Olsen, C, Uitterlinden, A, Hofman, A, Rietschel, M, Cichon, S, Nothen, M, Amouyel, P, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Cotelli, M, Rinaldi, F, Chiveri, L, Guaita, M, Perrone, P, Ceroni, M, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, M, Bono, G, Manera, U, Vasta, R, Bombaci, A, Casale, F, Fuda, G, Salamone, P, Iazzolino, B, Peotta, L, Cugnasco, P, De Marco, G, Torrieri, M, Palumbo, F, Gallone, S, Barberis, M, Sbaiz, L, Gentile, S, Mauro, A, Mazzini, L, De Marchi, F, Corrado, L, Bertolotto, A, Gionco, M, Leotta, D, Odddenino, E, Imperiale, D, Cavallo, R, Pignatta, P, De Mattei, M, Geda, C, Papurello, D, Gusmaroli, G, Comi, C, Labate, C, Ruiz, L, Ferrandi, D, Rota, E, Aguggia, M, Di Vito, N, Meineri, P, Ghiglione, P, Launaro, N, Dotta, M, Di Sapio, A, Giardini, G, Tiloca, C, Peverelli, S, Taroni, F, Pensato, V, Castellotti, B, Del Bo, R, Gagliardi, S, Raggi, F, Simoncini, C, Lo Gerfo, A, Inghilleri, M, Ferlini, A, Simone, I, Passarella, B, Guerra, V, Zoccolella, S, Nozzoli, C, Mundi, C, Leone, M, Zarrelli, M, Tamma, F, Valluzzi, F, Calabrese, G, Boero, G, Rini, A, Traynor, B, Singleton, A, Mitne Neto, M, Cauchi, R, Ophoff, R, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, V, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, O, Steinbach, R, Hubner, C, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, I, Kiernan, M, Benyamin, B, Henderson, R, Furlong, S, Mathers, S, Mccombe, P, Needham, M, Ngo, S, Nicholson, G, Pamphlett, R, Rowe, D, Steyn, F, Williams, K, Mather, K, Sachdev, P, Henders, A, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, G, Silani, V, Curtis, C, Breen, G, Glass, J, Brown, R, Landers, J, Shaw, C, Andersen, P, Groen, E, van Es, M, Pasterkamp, R, Fan, D, Garton, F, Mcrae, A, Davey Smith, G, Gaunt, T, Eberle, M, Mill, J, Mclaughlin, R, Hardiman, O, Kenna, K, Wray, N, Tsai, E, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, L, Veldink, J, van Rheenen W., van der Spek R. A. A., Bakker M. K., van Vugt J. J. F. A., Hop P. J., Zwamborn R. A. J., de Klein N., Westra H. -J., Bakker O. B., Deelen P., Shireby G., Hannon E., Moisse M., Baird D., Restuadi R., Dolzhenko E., Dekker A. M., Gawor K., Westeneng H. -J., Tazelaar G. H. P., van Eijk K. R., Kooyman M., Byrne R. P., Doherty M., Heverin M., Al Khleifat A., Iacoangeli A., Shatunov A., Ticozzi N., Cooper-Knock J., Smith B. N., Gromicho M., Chandran S., Pal S., Morrison K. E., Shaw P. J., Hardy J., Orrell R. W., Sendtner M., Meyer T., Basak N., van der Kooi A. J., Ratti A., Fogh I., Gellera C., Lauria G., Corti S., Cereda C., Sproviero D., D'Alfonso S., Soraru G., Siciliano G., Filosto M., Padovani A., Chio A., Calvo A., Moglia C., Brunetti M., Canosa A., Grassano M., Beghi E., Pupillo E., Logroscino G., Nefussy B., Osmanovic A., Nordin A., Lerner Y., Zabari M., Gotkine M., Baloh R. H., Bell S., Vourc'h P., Corcia P., Couratier P., Millecamps S., Meininger V., Salachas F., Mora Pardina J. S., Assialioui A., Rojas-Garcia R., Dion P. A., Ross J. P., Ludolph A. C., Weishaupt J. H., Brenner D., Freischmidt A., Bensimon G., Brice A., Durr A., Payan C. A. M., Saker-Delye S., Wood N. W., Topp S., Rademakers R., Tittmann L., Lieb W., Franke A., Ripke S., Braun A., Kraft J., Whiteman D. C., Olsen C. M., Uitterlinden A. G., Hofman A., Rietschel M., Cichon S., Nothen M. M., Amouyel P., Comi G., Riva N., Lunetta C., Gerardi F., Cotelli M. S., Rinaldi F., Chiveri L., Guaita M. C., Perrone P., Ceroni M., Diamanti L., Ferrarese C., Tremolizzo L., Delodovici M. L., Bono G., Manera U., Vasta R., Bombaci A., Casale F., Fuda G., Salamone P., Iazzolino B., Peotta L., Cugnasco P., De Marco G., Torrieri M. C., Palumbo F., Gallone S., Barberis M., Sbaiz L., Gentile S., Mauro A., Mazzini L., De Marchi F., Corrado L., Bertolotto A., Gionco M., Leotta D., Odddenino E., Imperiale D., Cavallo R., Pignatta P., De Mattei M., Geda C., Papurello D. M., Gusmaroli G., Comi C., Labate C., Ruiz L., Ferrandi D., Rota E., Aguggia M., Di Vito N., Meineri P., Ghiglione P., Launaro N., Dotta M., Di Sapio A., Giardini G., Tiloca C., Peverelli S., Taroni F., Pensato V., Castellotti B., Comi G. P., Del Bo R., Gagliardi S., Raggi F., Simoncini C., Lo Gerfo A., Inghilleri M., Ferlini A., Simone I. L., Passarella B., Guerra V., Zoccolella S., Nozzoli C., Mundi C., Leone M., Zarrelli M., Tamma F., Valluzzi F., Calabrese G., Boero G., Rini A., Traynor B. J., Singleton A. B., Mitne Neto M., Cauchi R. J., Ophoff R. A., Wiedau-Pazos M., Lomen-Hoerth C., van Deerlin V. M., Grosskreutz J., Roediger A., Gaur N., Jork A., Barthel T., Theele E., Ilse B., Stubendorff B., Witte O. W., Steinbach R., Hubner C. A., Graff C., Brylev L., Fominykh V., Demeshonok V., Ataulina A., Rogelj B., Koritnik B., Zidar J., Ravnik-Glavac M., Glavac D., Stevic Z., Drory V., Povedano M., Blair I. P., Kiernan M. C., Benyamin B., Henderson R. D., Furlong S., Mathers S., McCombe P. A., Needham M., Ngo S. T., Nicholson G. A., Pamphlett R., Rowe D. B., Steyn F. J., Williams K. L., Mather K. A., Sachdev P. S., Henders A. K., Wallace L., de Carvalho M., Pinto S., Petri S., Weber M., Rouleau G. A., Silani V., Curtis C. J., Breen G., Glass J. D., Brown R. H., Landers J. E., Shaw C. E., Andersen P. M., Groen E. J. N., van Es M. A., Pasterkamp R. J., Fan D., Garton F. C., McRae A. F., Davey Smith G., Gaunt T. R., Eberle M. A., Mill J., McLaughlin R. L., Hardiman O., Kenna K. P., Wray N. R., Tsai E., Runz H., Franke L., Al-Chalabi A., Van Damme P., van den Berg L. H., Veldink J. H., van Rheenen W., van Rheenen, W, van der Spek, R, Bakker, M, van Vugt, J, Hop, P, Zwamborn, R, de Klein, N, Westra, H, Bakker, O, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, A, Gawor, K, Westeneng, H, Tazelaar, G, van Eijk, K, Kooyman, M, Byrne, R, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, B, Gromicho, M, Chandran, S, Pal, S, Morrison, K, Shaw, P, Hardy, J, Orrell, R, Sendtner, M, Meyer, T, Basak, N, van der Kooi, A, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, D'Alfonso, S, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, R, Bell, S, Vourc'H, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Mora Pardina, J, Assialioui, A, Rojas-Garcia, R, Dion, P, Ross, J, Ludolph, A, Weishaupt, J, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, C, Saker-Delye, S, Wood, N, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, D, Olsen, C, Uitterlinden, A, Hofman, A, Rietschel, M, Cichon, S, Nothen, M, Amouyel, P, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Cotelli, M, Rinaldi, F, Chiveri, L, Guaita, M, Perrone, P, Ceroni, M, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, M, Bono, G, Manera, U, Vasta, R, Bombaci, A, Casale, F, Fuda, G, Salamone, P, Iazzolino, B, Peotta, L, Cugnasco, P, De Marco, G, Torrieri, M, Palumbo, F, Gallone, S, Barberis, M, Sbaiz, L, Gentile, S, Mauro, A, Mazzini, L, De Marchi, F, Corrado, L, Bertolotto, A, Gionco, M, Leotta, D, Odddenino, E, Imperiale, D, Cavallo, R, Pignatta, P, De Mattei, M, Geda, C, Papurello, D, Gusmaroli, G, Comi, C, Labate, C, Ruiz, L, Ferrandi, D, Rota, E, Aguggia, M, Di Vito, N, Meineri, P, Ghiglione, P, Launaro, N, Dotta, M, Di Sapio, A, Giardini, G, Tiloca, C, Peverelli, S, Taroni, F, Pensato, V, Castellotti, B, Del Bo, R, Gagliardi, S, Raggi, F, Simoncini, C, Lo Gerfo, A, Inghilleri, M, Ferlini, A, Simone, I, Passarella, B, Guerra, V, Zoccolella, S, Nozzoli, C, Mundi, C, Leone, M, Zarrelli, M, Tamma, F, Valluzzi, F, Calabrese, G, Boero, G, Rini, A, Traynor, B, Singleton, A, Mitne Neto, M, Cauchi, R, Ophoff, R, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, V, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, O, Steinbach, R, Hubner, C, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, I, Kiernan, M, Benyamin, B, Henderson, R, Furlong, S, Mathers, S, Mccombe, P, Needham, M, Ngo, S, Nicholson, G, Pamphlett, R, Rowe, D, Steyn, F, Williams, K, Mather, K, Sachdev, P, Henders, A, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, G, Silani, V, Curtis, C, Breen, G, Glass, J, Brown, R, Landers, J, Shaw, C, Andersen, P, Groen, E, van Es, M, Pasterkamp, R, Fan, D, Garton, F, Mcrae, A, Davey Smith, G, Gaunt, T, Eberle, M, Mill, J, Mclaughlin, R, Hardiman, O, Kenna, K, Wray, N, Tsai, E, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, L, Veldink, J, van Rheenen W., van der Spek R. A. A., Bakker M. K., van Vugt J. J. F. A., Hop P. J., Zwamborn R. A. J., de Klein N., Westra H. -J., Bakker O. B., Deelen P., Shireby G., Hannon E., Moisse M., Baird D., Restuadi R., Dolzhenko E., Dekker A. M., Gawor K., Westeneng H. -J., Tazelaar G. H. P., van Eijk K. R., Kooyman M., Byrne R. P., Doherty M., Heverin M., Al Khleifat A., Iacoangeli A., Shatunov A., Ticozzi N., Cooper-Knock J., Smith B. N., Gromicho M., Chandran S., Pal S., Morrison K. E., Shaw P. J., Hardy J., Orrell R. W., Sendtner M., Meyer T., Basak N., van der Kooi A. J., Ratti A., Fogh I., Gellera C., Lauria G., Corti S., Cereda C., Sproviero D., D'Alfonso S., Soraru G., Siciliano G., Filosto M., Padovani A., Chio A., Calvo A., Moglia C., Brunetti M., Canosa A., Grassano M., Beghi E., Pupillo E., Logroscino G., Nefussy B., Osmanovic A., Nordin A., Lerner Y., Zabari M., Gotkine M., Baloh R. H., Bell S., Vourc'h P., Corcia P., Couratier P., Millecamps S., Meininger V., Salachas F., Mora Pardina J. S., Assialioui A., Rojas-Garcia R., Dion P. A., Ross J. P., Ludolph A. C., Weishaupt J. H., Brenner D., Freischmidt A., Bensimon G., Brice A., Durr A., Payan C. A. M., Saker-Delye S., Wood N. W., Topp S., Rademakers R., Tittmann L., Lieb W., Franke A., Ripke S., Braun A., Kraft J., Whiteman D. C., Olsen C. M., Uitterlinden A. G., Hofman A., Rietschel M., Cichon S., Nothen M. M., Amouyel P., Comi G., Riva N., Lunetta C., Gerardi F., Cotelli M. S., Rinaldi F., Chiveri L., Guaita M. C., Perrone P., Ceroni M., Diamanti L., Ferrarese C., Tremolizzo L., Delodovici M. L., Bono G., Manera U., Vasta R., Bombaci A., Casale F., Fuda G., Salamone P., Iazzolino B., Peotta L., Cugnasco P., De Marco G., Torrieri M. C., Palumbo F., Gallone S., Barberis M., Sbaiz L., Gentile S., Mauro A., Mazzini L., De Marchi F., Corrado L., Bertolotto A., Gionco M., Leotta D., Odddenino E., Imperiale D., Cavallo R., Pignatta P., De Mattei M., Geda C., Papurello D. M., Gusmaroli G., Comi C., Labate C., Ruiz L., Ferrandi D., Rota E., Aguggia M., Di Vito N., Meineri P., Ghiglione P., Launaro N., Dotta M., Di Sapio A., Giardini G., Tiloca C., Peverelli S., Taroni F., Pensato V., Castellotti B., Comi G. P., Del Bo R., Gagliardi S., Raggi F., Simoncini C., Lo Gerfo A., Inghilleri M., Ferlini A., Simone I. L., Passarella B., Guerra V., Zoccolella S., Nozzoli C., Mundi C., Leone M., Zarrelli M., Tamma F., Valluzzi F., Calabrese G., Boero G., Rini A., Traynor B. J., Singleton A. B., Mitne Neto M., Cauchi R. J., Ophoff R. A., Wiedau-Pazos M., Lomen-Hoerth C., van Deerlin V. M., Grosskreutz J., Roediger A., Gaur N., Jork A., Barthel T., Theele E., Ilse B., Stubendorff B., Witte O. W., Steinbach R., Hubner C. A., Graff C., Brylev L., Fominykh V., Demeshonok V., Ataulina A., Rogelj B., Koritnik B., Zidar J., Ravnik-Glavac M., Glavac D., Stevic Z., Drory V., Povedano M., Blair I. P., Kiernan M. C., Benyamin B., Henderson R. D., Furlong S., Mathers S., McCombe P. A., Needham M., Ngo S. T., Nicholson G. A., Pamphlett R., Rowe D. B., Steyn F. J., Williams K. L., Mather K. A., Sachdev P. S., Henders A. K., Wallace L., de Carvalho M., Pinto S., Petri S., Weber M., Rouleau G. A., Silani V., Curtis C. J., Breen G., Glass J. D., Brown R. H., Landers J. E., Shaw C. E., Andersen P. M., Groen E. J. N., van Es M. A., Pasterkamp R. J., Fan D., Garton F. C., McRae A. F., Davey Smith G., Gaunt T. R., Eberle M. A., Mill J., McLaughlin R. L., Hardiman O., Kenna K. P., Wray N. R., Tsai E., Runz H., Franke L., Al-Chalabi A., Van Damme P., van den Berg L. H., and Veldink J. H.
- Abstract
In the version of this article initially published, the affiliation for Nazli Başak appeared incorrectly. Nazli Başak is at Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey, and not Bogazici University. The error has been corrected in the HTML and PDF versions of the article.
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- 2022
13. Anorexia nervosa of the restrictive type and celiac disease in adolescence
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Nacinovich R, Tremolizzo L, Corbetta F, Conti E, Neri F, and Bomba M
- Subjects
Anorexia Nervosa ,Celiac Disease ,adolescence ,Celiac Disease antibody ,gluten ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Renata Nacinovich,1 Lucio Tremolizzo,2 Fabiola Corbetta,1 Elisa Conti,2 Francesca Neri,1 Monica Bomba1 1Child and Adolescent Mental Health Department, 2Neurology Unit and Lab of Neurobiology, San Gerardo Hospital, School of Medicine and Surgery and Milan Center for Neuroscience (Neuro-MI), University of Milano-Bicocca, Monza, Italy Background: Anorexia nervosa (AN) is usually present in adolescence with symptoms partially overlapping celiac disease (CD), but the relationship between these two conditions has received little attention in the literature. The aim of this work was to explore this relationship, considering if CD could be associated with specific baseline AN-related clinical features. Methods: In this retrospective study, 82 adolescent female out- and inpatients with AN of the restrictive type (ANr), according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria, were recruited. CD diagnosis and related serology were recorded, including tissue transglutaminase type-2 antibodies, endomysial antibodies, and antibodies against deamidated forms of gliadin peptides. Eating disorder inventory-3, Children’s Depression Inventory, body mass index, age, and disease duration data recorded at the time of blood withdrawal were also obtained from each patient. Results: Five (6.1%) subjects presented a CD disorder associated with AN: none of the collected psychometric measures was significantly correlated with any CD-related parameter or characterized as a specific subgroup. Conclusion: CD diagnosis or serology does not relate to ANr clinical or demographic characteristics. However, a slight increase in prevalence with respect to the general population might be hypothesized and possibly elucidated by further studies with an appropriate design. Keywords: anorexia nervosa, celiac disease, adolescence, celiac disease antibody, gluten
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- 2017
14. Clinical applicability of pCASL as a substitute for FDG-PET in the etiological diagnosis of MCI and SCD: CAPE study protocol
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Pozzi, F, Cerina, V, Licciardo, D, Guo, W, Brambilla, A, Cosentino, G, Remoli, G, Da Re, F, Conti, E, Tremolizzo, L, Moresco, R, Isella, V, De Bernardi, E, Morzenti, S, Musarra, M, Crivellaro, C, Appollonio, I, Ferrarese, C, Basso, G, F. E. Pozzi, V. Cerina, D. Licciardo, W. Guo, A. Brambilla, G. Cosentino, G. Remoli, F. Da Re, E. Conti, L. Tremolizzo, R. M. Moresco, V. Isella, E. De Bernardi, S. Morzenti, M. Musarra, C. Crivellaro, I. Appollonio, C. Ferrarese, G. Basso, Pozzi, F, Cerina, V, Licciardo, D, Guo, W, Brambilla, A, Cosentino, G, Remoli, G, Da Re, F, Conti, E, Tremolizzo, L, Moresco, R, Isella, V, De Bernardi, E, Morzenti, S, Musarra, M, Crivellaro, C, Appollonio, I, Ferrarese, C, Basso, G, F. E. Pozzi, V. Cerina, D. Licciardo, W. Guo, A. Brambilla, G. Cosentino, G. Remoli, F. Da Re, E. Conti, L. Tremolizzo, R. M. Moresco, V. Isella, E. De Bernardi, S. Morzenti, M. Musarra, C. Crivellaro, I. Appollonio, C. Ferrarese, and G. Basso
- Abstract
Background: The foreseeable clinical availability in Europe of disease-modifying drugs effective in early phases of some neurodegenerative diseases (such as Alzheimer’s disease), shifts the focus to the etiological diagnosis of pre-dementia stages, such as Mild Cognitive Impairment (MCI) and Subjective Cognitive Decline (SCD). Current diagnostic approaches employ costly and limited methods such as PET-FDG. Pseudo-continuous Arterial Spin Labeling (pCASL) is emerging as a promising non-invasive alternative, offering rapid, radiation-free brain perfusion measurements through MRI. Recent research demonstrates pCASL's comparable performance to PET-FDG in neurodegenerative dementias, revealing aligned affected brain regions. However, pCASL's suitability for diagnosing MCI and SCD remains unexplored. The CAPE study (NCT05756270) aims to evaluate pCASL's diagnostic potential in MCI and SCD during initial assessments, by correlating cerebral blood flow patterns from pCASL and PET-FDG and comparing their accuracy. Methods: CAPE primary objective will be to compare brain cerebral blood flow and glucose metabolism patterns among MCI and SCD subjects both in general and across ATN classifications of CSF biomarkers. Secondary objectives will encompass evaluating pCASL's potential in distinguishing various subgroups of SCD and MCI, examining correlations between pCASL/PET-FDG and neuropsychological tests, predicting conversion to dementia using pCASL and PET-FDG, and exploring associations between pCASL and diverse fluid biomarkers. The study will recruit up to 150 MCI and SCD subjects, with CDR ≤ 0.5 and age ≤ 80. The research will span 36 months (24-month recruitment phase, and partially overlapping 24-month follow-up). Participants will undergo baseline brain MRI, PET-FDG, neuropsychological tests, lumbar puncture, and blood tests. Neuropsychological tests will be repeated annually twice to evaluate progression to dementia. A customized pipeline for joint quantitative analysis
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- 2023
15. Can Traditional Board Games Prevent or Slow Down Cognitive Impairment? A Systematic Review and Meta-Analysis
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Pozzi, F, Appollonio, I, Ferrarese, C, Tremolizzo, L, Pozzi, Federico Emanuele, Appollonio, Ildebrando, Ferrarese, Carlo, Tremolizzo, Lucio, Pozzi, F, Appollonio, I, Ferrarese, C, Tremolizzo, L, Pozzi, Federico Emanuele, Appollonio, Ildebrando, Ferrarese, Carlo, and Tremolizzo, Lucio
- Abstract
BACKGROUND: Traditional board games can entail significant skills encompassing several cognitive functions across different domains. Therefore, they may potentially represent effective cognitive interventions in the aging population with or without Alzheimer's disease or other types of dementia. OBJECTIVE: We aimed at verifying the hypothesis that traditional board games can prevent or slow down cognitive decline, through a systematic review on traditional board games and dementia. METHODS: We searched five databases with tailored search strings. We included studies assessing the impact of board games on elderly subjects at risk of or suffering from cognitive impairment, or subjects with cognitive impairment irrespective of age. Studies where the effect of board games was not separated by cards or other games were excluded. A meta-analysis was performed for specific cognitive and non-cognitive outcomes. RESULTS: Board games improved mental function, as measured by Montreal Cognitive Assessment (p = 0.003) and Mini-Mental State Examination (p = 0.02). Ska and Go improved Trail Making Test -A, while Mahjong improved executive functions. There was no consistent effect across different games on Digit Span or Categorical Fluency. Chess improved quality of life measured with the WHO-QoL-OLD scale (p < 0.00001). Mahjong temporarily improved depressive symptoms. Go increased BDNF levels and left middle temporal gyrus and bilateral putamen metabolism. CONCLUSIONS: Traditional board games may slow global cognitive decline and improve the quality of life in elderly subjects. Different games have varying impacts on specific cognitive domains, possibly mediated by functional and biological factors.
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- 2023
16. Editorial: Strategies to fight exercise intolerance in neuromuscular disorders, volume II
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Lanfranconi, F, Tremolizzo, L, Marzorati, M, D'Antona, G, Lanfranconi, Francesca, Tremolizzo, Lucio, Marzorati, Mauro, D'Antona, Giuseppe, Lanfranconi, F, Tremolizzo, L, Marzorati, M, D'Antona, G, Lanfranconi, Francesca, Tremolizzo, Lucio, Marzorati, Mauro, and D'Antona, Giuseppe
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- 2023
17. The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations
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Canosa, A, Calvo, A, Mora, G, Moglia, C, Brunetti, M, Barberis, M, Borghero, G, Caponnetto, C, Trojsi, F, Spataro, R, Volanti, P, Simone, I, Salvi, F, Logullo, F, Riva, N, Tremolizzo, L, Giannini, F, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Conforti, F, Zollino, M, Sabatelli, M, Tarlarini, C, Lunetta, C, Mazzini, L, D'Alfonso, S, Guy, N, Meininger, V, Clavelou, P, Camu, W, Chiò, A, Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano, Canosa, A, Calvo, A, Mora, G, Moglia, C, Brunetti, M, Barberis, M, Borghero, G, Caponnetto, C, Trojsi, F, Spataro, R, Volanti, P, Simone, I, Salvi, F, Logullo, F, Riva, N, Tremolizzo, L, Giannini, F, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Conforti, F, Zollino, M, Sabatelli, M, Tarlarini, C, Lunetta, C, Mazzini, L, D'Alfonso, S, Guy, N, Meininger, V, Clavelou, P, Camu, W, Chiò, A, Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, and Chiò, Adriano
- Abstract
Background: Data from published studies about the effect of HFE polymorphisms on ALS risk, phenotype, and survival are still inconclusive. We aimed at evaluating whether the p.H63D polymorphism is a modifier of phenotype and survival in SOD1-mutated patients. Methods: We included 183 SOD1-mutated ALS patients. Mutations were classified as severe or mild according to the median survival of the study population. Patients were screened for the HFE p.H63D polymorphism. Survival was calculated using the Kaplan–Meier modeling, and differences were measured by the log-rank test. Multivariable analysis was performed with the Cox proportional hazards model (stepwise backward). Results: SOD1 severe mutation carriers show more frequent familial history for ALS and shorter survival compared to mild mutation carriers. Carriers and non-carriers of the p.H63D polymorphism did not differ in terms of sex ratio, frequency of positive familial history, age at onset, and bulbar/spinal ratio. In univariate and in Cox multivariable analysis using sex, age at onset, site of onset, family history, country of origin, and mutation severity as covariates, p.H63D carriers had a longer survival (p = 0.034 and p = 0.004). Conclusions: We found that SOD1-mutated ALS patients carrying the p.H63D HFE polymorphism have a longer survival compared to non-carriers, independently of sex, age and site of onset, family history, nation of origin, and severity of mutations, suggesting a possible role as disease progression modifier for the p.H63D HFE polymorphism in SOD1-ALS.
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- 2023
18. Functional Connectivity From Disease Epicenters in Frontotemporal Dementia
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Agosta, F, Spinelli, E, Basaia, S, Cividini, C, Falbo, F, Pavone, C, Riva, N, Canu, E, Castelnovo, V, Magnani, G, Caso, F, Caroppo, P, Prioni, S, Villa, C, Tremolizzo, L, Appollonio, I, Silani, V, Josephs, K, Whitwell, J, Filippi, M, Agosta, Federica, Spinelli, Edoardo Gioele, Basaia, Silvia, Cividini, Camilla, Falbo, Francesco, Pavone, Costanza, Riva, Nilo, Canu, Elisa, Castelnovo, Veronica, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Tremolizzo, Lucio, Appollonio, Ildebrando, Silani, Vincenzo, Josephs, Keith Anthony, Whitwell, Jennifer, Filippi, Massimo, Agosta, F, Spinelli, E, Basaia, S, Cividini, C, Falbo, F, Pavone, C, Riva, N, Canu, E, Castelnovo, V, Magnani, G, Caso, F, Caroppo, P, Prioni, S, Villa, C, Tremolizzo, L, Appollonio, I, Silani, V, Josephs, K, Whitwell, J, Filippi, M, Agosta, Federica, Spinelli, Edoardo Gioele, Basaia, Silvia, Cividini, Camilla, Falbo, Francesco, Pavone, Costanza, Riva, Nilo, Canu, Elisa, Castelnovo, Veronica, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Tremolizzo, Lucio, Appollonio, Ildebrando, Silani, Vincenzo, Josephs, Keith Anthony, Whitwell, Jennifer, and Filippi, Massimo
- Abstract
Background and ObjectivesMRI connectomics is an ideal tool to test a network-based model of pathologic propagation from a disease epicenter in neurodegenerative disorders. In this study, we used a novel graph theory-based MRI paradigm to explore functional connectivity reorganization, discerning between direct and indirect connections from disease epicenters, and its relationship with neurodegeneration across clinical presentations of the frontotemporal dementia (FTD) spectrum, including behavioral variant of FTD (bvFTD), nonfluent variant of primary progressive aphasia (nfvPPA), and semantic variant of primary progressive aphasia (svPPA).MethodsIn this observational cross-sectional study, disease epicenters were defined as the peaks of atrophy of a cohort of patients with high confidence of frontotemporal lobar degeneration pathology (Mayo Clinic). These were used as seed regions for stepwise functional connectivity (SFC) analyses in an independent (Milan) set of patients with FTD to assess connectivity in regions directly and indirectly connected to the epicenters. Correlations between SFC architecture in healthy conditions and atrophy patterns in patients with FTD were also tested.ResultsAs defined by comparing the 42 Mayo Clinic patients with 15 controls, disease epicenters were the left anterior insula for bvFTD, left supplementary motor area for nfvPPA, and left inferior temporal gyrus (ITG) for svPPA. Compared with 94 age-matched controls, patients with bvFTD (n = 64) and nfvPPA (n = 34) of the Milan cohort showed widespread decreased SFC in bilateral cortical regions with direct/indirect connections with epicenters and increased SFC either in directly connected regions, physically close to the respective seed region, or in more distant cortical/cerebellar areas with indirect connections. Across all link steps, svPPA (n = 36) showed SFC decrease mostly within the temporal lobes, with co-occurrent SFC increase in cerebellar regions at indirect link steps. The
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- 2023
19. Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease
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Luo, J, Thomassen, J, Bellenguez, C, Grenier-Boley, B, de Rojas, I, Castillo, A, Parveen, K, Küçükali, F, Nicolas, A, Peters, O, Schneider, A, Dichgans, M, Rujescu, D, Scherbaum, N, Jürgen, D, Riedel-Heller, S, Hausner, L, Porcel, L, Düzel, E, Grimmer, T, Wiltfang, J, Heilmann-Heimbach, S, Moebus, S, Tegos, T, Scarmeas, N, Clarimon, J, Moreno, F, Pérez-Tur, J, Bullido, M, Pastor, P, Sánchez-Valle, R, Álvarez, V, Boada, M, García-González, P, Puerta, R, Mir, P, Real, L, Piñol-Ripoll, G, García-Alberca, J, Royo, J, Rodriguez-Rodriguez, E, Soininen, H, Kuulasmaa, T, de Mendonça, A, Mehrabian, S, Hort, J, Vyhnalek, M, van der Lee, S, Graff, C, Papenberg, G, Giedraitis, V, Boland, A, Bacq-Daian, D, Deleuze, J, Nicolas, G, Dufouil, C, Pasquier, F, Hanon, O, Debette, S, Grünblatt, E, Popp, J, Benussi, L, Galimberti, D, Arosio, B, Mecocci, P, Solfrizzi, V, Parnetti, L, Squassina, A, Tremolizzo, L, Borroni, B, Nacmias, B, Sorbi, S, Caffarra, P, Seripa, D, Rainero, I, Daniele, A, Masullo, C, Spalletta, G, Williams, J, Amouyel, P, Jessen, F, Kehoe, P, Magda, T, Rossi, G, Sánchez-Juan, P, Sleegers, K, Ingelsson, M, Andreassen, O, Hiltunen, M, Van Duijn, C, Sims, R, van der Flier, W, Ruiz, A, Ramirez, A, Lambert, J, Frikke-Schmidt, R, Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Céline, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo, Atahualpa, Parveen, Kayenat, Küçükali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jürgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Porcel, Laura Molina, Düzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimon, Jordi, Moreno, Fermin, Pérez-Tur, Jordi, Bullido, María J, Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis M, Piñol-Ripoll, Gerard, García-Alberca, Jose María, Royo, Jose Luís, Rodriguez-Rodriguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, de Mendonça, Alexandre, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-François, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stéphanie, Grünblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A, Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, van der Flier, Wiesje, Ruiz, Agustín, Ramirez, Alfredo, Lambert, Jean-Charles, Frikke-Schmidt, Ruth, Luo, J, Thomassen, J, Bellenguez, C, Grenier-Boley, B, de Rojas, I, Castillo, A, Parveen, K, Küçükali, F, Nicolas, A, Peters, O, Schneider, A, Dichgans, M, Rujescu, D, Scherbaum, N, Jürgen, D, Riedel-Heller, S, Hausner, L, Porcel, L, Düzel, E, Grimmer, T, Wiltfang, J, Heilmann-Heimbach, S, Moebus, S, Tegos, T, Scarmeas, N, Clarimon, J, Moreno, F, Pérez-Tur, J, Bullido, M, Pastor, P, Sánchez-Valle, R, Álvarez, V, Boada, M, García-González, P, Puerta, R, Mir, P, Real, L, Piñol-Ripoll, G, García-Alberca, J, Royo, J, Rodriguez-Rodriguez, E, Soininen, H, Kuulasmaa, T, de Mendonça, A, Mehrabian, S, Hort, J, Vyhnalek, M, van der Lee, S, Graff, C, Papenberg, G, Giedraitis, V, Boland, A, Bacq-Daian, D, Deleuze, J, Nicolas, G, Dufouil, C, Pasquier, F, Hanon, O, Debette, S, Grünblatt, E, Popp, J, Benussi, L, Galimberti, D, Arosio, B, Mecocci, P, Solfrizzi, V, Parnetti, L, Squassina, A, Tremolizzo, L, Borroni, B, Nacmias, B, Sorbi, S, Caffarra, P, Seripa, D, Rainero, I, Daniele, A, Masullo, C, Spalletta, G, Williams, J, Amouyel, P, Jessen, F, Kehoe, P, Magda, T, Rossi, G, Sánchez-Juan, P, Sleegers, K, Ingelsson, M, Andreassen, O, Hiltunen, M, Van Duijn, C, Sims, R, van der Flier, W, Ruiz, A, Ramirez, A, Lambert, J, Frikke-Schmidt, R, Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Céline, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo, Atahualpa, Parveen, Kayenat, Küçükali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jürgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Porcel, Laura Molina, Düzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimon, Jordi, Moreno, Fermin, Pérez-Tur, Jordi, Bullido, María J, Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis M, Piñol-Ripoll, Gerard, García-Alberca, Jose María, Royo, Jose Luís, Rodriguez-Rodriguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, de Mendonça, Alexandre, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-François, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stéphanie, Grünblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A, Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, van der Flier, Wiesje, Ruiz, Agustín, Ramirez, Alfredo, Lambert, Jean-Charles, and Frikke-Schmidt, Ruth
- Abstract
Importance: An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most of these risk factors is lacking. Effective interventions should target risk factors in the causal pathway to dementia. Objective: To comprehensively disentangle potentially causal aspects of modifiable risk factors for Alzheimer disease (AD) to inspire new drug targeting and improved prevention. Design, Setting, and Participants: This genetic association study was conducted using 2-sample univariable and multivariable mendelian randomization. Independent genetic variants associated with modifiable risk factors were selected as instrumental variables from genomic consortia. Outcome data for AD were obtained from the European Alzheimer & Dementia Biobank (EADB), generated on August 31, 2021. Main analyses were conducted using the EADB clinically diagnosed end point data. All analyses were performed between April 12 and October 27, 2022. Exposures: Genetically determined modifiable risk factors. Main Outcomes and Measures: Odds ratios (ORs) and 95% CIs for AD were calculated per 1-unit change of genetically determined risk factors. Results: The EADB-diagnosed cohort included 39106 participants with clinically diagnosed AD and 401577 control participants without AD. The mean age ranged from 72 to 83 years for participants with AD and 51 to 80 years for control participants. Among participants with AD, 54% to 75% were female, and among control participants, 48% to 60% were female. Genetically determined high-density lipoprotein (HDL) cholesterol concentrations were associated with increased odds of AD (OR per 1-SD increase, 1.10 [95% CI, 1.05-1.16]). Genetically determined high systolic blood pressure was associated with increased risk of AD after adjusting for diastolic blood pressure (OR per 10-mm Hg increase, 1.22 [95% CI, 1.02-1.46]). In a second analysis to minimize bias due to sample overlap, the entire
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- 2023
20. BPSDiary study protocol: a multi-center randomized controlled trial to compare the efficacy of a BPSD diary vs. standard care in reducing caregiver's burden
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Pozzi, F, Calì, L, D'Antonio, F, Altomare, A, Sepe Monti, M, Panigutti, M, Di Crosta, A, Palumbo, R, Bonanni, L, Carlucci, V, Bussè, C, Cagning, A, Urso, D, Vilella, D, Logroscino, G, Alberoni, M, Bellinvia, A, Farina, E, de Rino, F, Gavazzi, A, Zuffi, M, Bruno, G, Bessi, V, Cotta Ramusino, M, Perini, G, Costa, A, Ferrarese, C, Appollonio, I, Tremolizzo, L, Pozzi, Federico Emanuele, Calì, Luisa, D'Antonio, Fabrizia, Altomare, Arianna Ida, Sepe Monti, Micaela, Panigutti, Massimiliano, Di Crosta, Adolfo, Palumbo, Rocco, Bonanni, Laura, Carlucci, Valentina, Bussè, Cinzia, Cagning, Annachiara, Urso, Daniele, Vilella, Davide, Logroscino, Giancarlo, Alberoni, Margherita, Bellinvia, Angelo, Farina, Elisabetta, de Rino, Francesca, Gavazzi, Armando, Zuffi, Marta, Bruno, Giuseppe, Bessi, Valentina, Cotta Ramusino, Matteo, Perini, Giulia, Costa, Alfredo, Ferrarese, Carlo, Appollonio, Ildebrando, Tremolizzo, Lucio, Pozzi, F, Calì, L, D'Antonio, F, Altomare, A, Sepe Monti, M, Panigutti, M, Di Crosta, A, Palumbo, R, Bonanni, L, Carlucci, V, Bussè, C, Cagning, A, Urso, D, Vilella, D, Logroscino, G, Alberoni, M, Bellinvia, A, Farina, E, de Rino, F, Gavazzi, A, Zuffi, M, Bruno, G, Bessi, V, Cotta Ramusino, M, Perini, G, Costa, A, Ferrarese, C, Appollonio, I, Tremolizzo, L, Pozzi, Federico Emanuele, Calì, Luisa, D'Antonio, Fabrizia, Altomare, Arianna Ida, Sepe Monti, Micaela, Panigutti, Massimiliano, Di Crosta, Adolfo, Palumbo, Rocco, Bonanni, Laura, Carlucci, Valentina, Bussè, Cinzia, Cagning, Annachiara, Urso, Daniele, Vilella, Davide, Logroscino, Giancarlo, Alberoni, Margherita, Bellinvia, Angelo, Farina, Elisabetta, de Rino, Francesca, Gavazzi, Armando, Zuffi, Marta, Bruno, Giuseppe, Bessi, Valentina, Cotta Ramusino, Matteo, Perini, Giulia, Costa, Alfredo, Ferrarese, Carlo, Appollonio, Ildebrando, and Tremolizzo, Lucio
- Abstract
Behavioral and Psychological Symptoms of Dementia (BPSD) are a heterogeneous set of psychological and behavioral abnormalities seen in persons with dementia (PwD), significantly impacting their quality of life and that of their caregivers. Current assessment tools, such as the Neuropsychiatric Inventory (NPI), are limited by recall bias and lack of direct observation. This study aims to overcome this limitation by making caregiver reports more objective through the use of a novel instrument, referred to as the BPSDiary. This randomized controlled trial will involve 300 caregiver-PwD dyads. The objective is to evaluate whether the use of the BPSDiary could significantly reduce caregiver burden, assessed using the Zarit Burden Interview (ZBI), compared to usual care. The study will include adult PwD, caregivers living with or close to the patient, and BPSD related to the HIDA (hyperactivity, impulsivity, irritability, disinhibition, aggression, agitation) domain. Caregivers randomized to the intervention arm will use the BPSDiary to record specific BPSD, including insomnia, agitation/anxiety, aggression, purposeless motor behavior, and delusions/hallucinations, registering time of onset, severity, and potential triggers. The primary outcome will be the change in ZBI scores at 3 months, with secondary outcomes including changes in NPI scores, olanzapine equivalents, NPI-distress scores related to specific BPSD domains, and caregiver and physician satisfaction. The study will be conducted in 9 Italian centers, representing diverse geographic and sociocultural contexts. While potential limitations include the relatively short observation period and the focus on specific BPSD disturbances, the BPSDiary could provide physicians with objective data to tailor appropriate non-pharmacological and pharmacological interventions. Additionally, it may empower caregivers by encouraging reflection on BPSD triggers, with the potential to improve the quality of life for both PwD and t
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- 2023
21. The Italian dementia with Lewy bodies study group (DLB-SINdem): toward a standardization of clinical procedures and multicenter cohort studies design
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Bonanni, L., Cagnin, A., Agosta, F., Babiloni, C., Borroni, B., Bozzali, M., Bruni, A. C., Filippi, M., Galimberti, D., Monastero, R., Muscio, C., Parnetti, L., Perani, D., Serra, L., Silani, V., Tiraboschi, P., Padovani, A., Alberici, A., Alberoni, M., Amici, S., Appollonio, I., Arena, M.G., Arighi, A., Avanzi, S., Bagella, C.F., Baglio, F., Barocco, F., Belardinelli, N., Bonuccelli, U., Bottini, G., Bruno Bossio, R., Bruno, G., Buccomino, D., Cacchiò, G., Calabrese, E., Campanelli, A., Canevelli, M., Canu, E.D.G., Cappa, A., Capra, C., Carapelle, E., Caratozzolo, S., Carbone, G.F.S., Cattaruzza, T., Cerami, C., Cester, A., Cheldi, A., Cherchi, R., Chiari, A., Cirafisi, C., Colao, R., Confaloni, A., Conti, M.Z., Costa, A., Costa, B., Cotelli, M.S., Cova, I., Cravello, L., Cumbo, E., Cupidi, C., De Togni, L., Del Din, G., Del Re, M.L., Dentizzi, C., Di Lorenzo, F., Di Stefano, F., Dikova, N., Farina, E., Floris, G., Foti, A., Franceschi, M., Fumagalli, G.G., Gabelli, C., Ghidoni, E., Giannandrea, D., Giordana, M.T., Giorelli, M., Giubilei, F., Grimaldi, L., Grimaldi, R., Guglielmi, V., Lanari, A., Le Pira, F., Letteri, F., Levi Minzi, G.V., Lorusso, S., Ludovico, L., Luzzi, S., Maggiore, L., Magnani, G., Mancini, G., Manconi, F.M., Manfredi, L., Maniscalco, M., Marano, P., Marcon, M., Marcone, A., Marra, C., Martorana, A., Mascia, M.G., Mascia, V., Mauri, M., Mazzei, B., Meloni, M., Merlo, P., Messa, G., Milia, A., Monacelli, F., Montecalvo, G., Moschella, V., Mura, G., Nemni, R., Nobili, F., Notarelli, A., Di Giacomo, R., Onofrj, M., Paci, C., Padiglioni, C., Perini, M., Perotta, D., Perri, Formenti A., Perri, R., Piccininni, C., Piccoli, T., Pilia, G., Pilotto, A., Poli, S., Pomati, S., Pompanin, S., Pucci, E., Puccio, G., Quaranta, D., Rainero, I., Rea, G., Realmuto, S., Riva, M., Rizzetti, M.C., Rolma, G., Rozzini, L., Sacco, L., Saibene, F.L., Scarpini, E., Sensi, S., Seripa, D., Sinforiani, E., Sorbi, S., Sorrentino, G., Spallazzi, M., Stracciari, A., Talarico, G., Tassinari, T., Thomas, A., Tiezzi, A., Tomassini, P.F., Trebbastoni, A., Tremolizzo, L., Tripi, G., Ursini, F., Vaianella, L., Valluzzi, F., Vezzadini, G., Vista, M., Volontè, M.A., On behalf of DLB-SINdem study group, and Istituto Superiore di Sanità
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- 2017
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22. Coming to Terms with a Conundrum: A Case of Primary Progressive Apraxia of Speech due to Corticobasal Degeneration?
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Karantzoulis, A, Susani, E, Ferrarese, C, Appollonio, I, Tremolizzo, L, Karantzoulis A., Susani E., Ferrarese C., Appollonio I., Tremolizzo L., Karantzoulis, A, Susani, E, Ferrarese, C, Appollonio, I, Tremolizzo, L, Karantzoulis A., Susani E., Ferrarese C., Appollonio I., and Tremolizzo L.
- Abstract
Primary progressive apraxia of speech (PPAOS) is a progressive disorder impairing the motor speech act leaving linguistic function unattained. Although apraxia of speech frequently co-occurs with other neurodegenerative conditions, PPAOS defines a clinical syndrome where apraxia of speech is the sole or prominent symptom for much of the disease's natural history. Mounting evidence is beginning to fully define this disease as the epiphenomenon of 4-repeat (4R) tau pathology although other pathologic signatures have been reported. Indeed, PPAOS patients generally present a parkinsonian syndrome late into their natural history mostly qualifying for either corticobasal syndrome (CBS) or progressive supranuclear palsy (PSP). This is starting to be reflected in diagnostic criteria for PSP, namely, in the PSP speech and language (SL) subcategory; however, this inclusion is not reflected for CBS. Here, we present a single case of a patient with PPAOS and her clinical follow-up lasting 6 years, from the time she sought our attention to her death which occurred 8 years into the disease. PPAOS was the only and prominent symptom for most of the illness with extrapyramidal signs overtly presenting in the last months of its course. Clinical evaluation, imaging, genetic, and cerebrospinal fluid biomarkers all pointed toward an underlying CBD pathology, albeit the eventual anatomopathological confirmation was not performed. Had her clinical course been more suggestive of PSP, she would have qualified for criteria as PSP-SL. Our case therefore suggests the hypothetic need to discuss the broadening of the existing CBS criteria to encompass isolated PPAOS.
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- 2021
23. ALS mimics due to affection of the cervical spine: From common compressive myelopathy to rare CSF epidural collection
- Author
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Storti, B, Diamanti, S, Tremolizzo, L, Riva, N, Lunetta, C, Filippi, M, Ferrarese, C, Appollonio, I, Storti B., Diamanti S., Tremolizzo L., Riva N., Lunetta C., Filippi M., Ferrarese C., Appollonio I., Storti, B, Diamanti, S, Tremolizzo, L, Riva, N, Lunetta, C, Filippi, M, Ferrarese, C, Appollonio, I, Storti B., Diamanti S., Tremolizzo L., Riva N., Lunetta C., Filippi M., Ferrarese C., and Appollonio I.
- Abstract
Amyotrophic lateral sclerosis (ALS) is a clinically heterogeneous disease, with chameleon presentations and several mimics. Considering the poor prognosis of ALS, their precise and timely identification is pivotal. Affection of the cervical spine represents one potential source of ALS mimics that should never be missed, since it is potentially treatable. We hereby present 5 cases initially diagnosed as ALS but eventually found to have different kinds of cervical spine affection, from a common compressive myelopathy to a rare space-occupying cystic fluid collection.
- Published
- 2021
24. Jasmine smell hides an unwelcome surprise: a case of paraneoplastic limbic encephalitis presenting with olfactory epileptic auras
- Author
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Stefanoni, Giovanni, Formenti, A., Tremolizzo, L., Remida, P., Ferrarese, C., and Appollonio, I.
- Published
- 2017
- Full Text
- View/download PDF
25. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
- Author
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Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering-Brown, S, Pioro, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E, Johnson J.O., Chia R., Miller D.E., Li R., Kumaran R., Abramzon Y., Alahmady N., Renton A.E., Topp S.D., Gibbs J.R., Cookson M.R., Sabir M.S., Dalgard C.L., Troakes C., Jones A.R., Shatunov A., Iacoangeli A., Al Khleifat A., Ticozzi N., Silani V., Gellera C., Blair I.P., Dobson-Stone C., Kwok J.B., Bonkowski E.S., Palvadeau R., Tienari P.J., Morrison K.E., Shaw P.J., Al-Chalabi A., Brown R.H., Calvo A., Mora G., Al-Saif H., Gotkine M., Leigh F., Chang I.J., Perlman S.J., Glass I., Scott A.I., Shaw C.E., Basak A.N., Landers J.E., Chio A., Crawford T.O., Smith B.N., Traynor B.J., Fallini C., Gkazi A.S., Scotter E.L., Kenna K.P., Keagle P., Tiloca C., Vance C., Colombrita C., King A., Pensato V., Castellotti B., Baas F., Ten Asbroek A.L.M.A., McKenna-Yasek D., McLaughlin R.L., Polak M., Asress S., Esteban-Perez J., Stevic Z., D'Alfonso S., Mazzini L., Comi G.P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., Van Rheenen W., Rademakers R., Van Blitterswijk M., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K.L., Nicholson G.A., Leblond-Manry C., Rouleau G.A., Hardiman O., Veldink J.H., Van Den Berg L.H., Pall H., Turner M.R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Glass J.D., Ratti A., Adeleye A., Soltis A.R., Alba C., Viollet C., Bacikova D., Hupalo D.N., Sukumar G., Pollard H.B., Wilkerson M.D., Martinez E.M., Ahmed S., Arepalli S., Baloh R.H., Bowser R., Brady C.B., Brice A., Broach J., Campbell R.H., Camu W., Cooper-Knock J., Ding J., Drepper C., Drory V.E., Dunckley T.L., Eicher J.D., England B.K., Faghri F., Feldman E., Floeter M.K., Fratta P., Geiger J.T., Gerhard G., Gibson S.B., Hardy J., Harms M.B., Heiman-Patterson T.D., Hernandez D.G., Jansson L., Kirby J., Kowall N.W., Laaksovirta H., Landeck N., Landi F., Le Ber I., Lumbroso S., Macgowan D.J.L., Maragakis N.J., Mouzat K., Murphy N.A., Myllykangas L., Nalls M.A., Orrell R.W., Ostrow L.W., Pamphlett R., Pickering-Brown S., Pioro E.P., Pletnikova O., Pliner H.A., Pulst S.M., Ravits J.M., Rivera A., Robberecht W., Rogaeva E., Rollinson S., Rothstein J.D., Scholz S.W., Sendtner M., Sidle K.C., Simmons Z., Singleton A.B., Smith N., Stone D.J., Troncoso J.C., Valori M., Van Damme P., Van Deerlin V.M., Van Den Bosch L., Zinman L., Angelocola S.M., Ausiello F.P., Barberis M., Bartolomei I., Battistini S., Bersano E., Bisogni G., Borghero G., Brunetti M., Cabona C., Canale F., Canosa A., Cantisani T.A., Capasso M., Caponnetto C., Cardinali P., Carrera P., Casale F., Colletti T., Conforti F.L., Conte A., Conti E., Corbo M., Cuccu S., Dalla Bella E., D'Errico E., Demarco G., Dubbioso R., Ferrarese C., Ferraro P.M., Filippi M., Fini N., Floris G., Fuda G., Gallone S., Gianferrari G., Giannini F., Grassano M., Greco L., Iazzolino B., Introna A., La Bella V., Lattante S., Liguori R., Logroscino G., Logullo F.O., Lunetta C., Mandich P., Mandrioli J., Manera U., Manganelli F., Marangi G., Marinou K., Marrosu M.G., Martinelli I., Messina S., Moglia C., Mosca L., Murru M.R., Origone P., Passaniti C., Petrelli C., Petrucci A., Pozzi S., Pugliatti M., Quattrini A., Ricci C., Riolo G., Riva N., Russo M., Sabatelli M., Salamone P., Salivetto M., Salvi F., Santarelli M., Sbaiz L., Sideri R., Simone I., Simonini C., Spataro R., Tanel R., Tedeschi G., Ticca A., Torriello A., Tranquilli S., Tremolizzo L., Trojsi F., Vasta R., Vacchiano V., Vita G., Volanti P., Zollino M., Zucchi E., Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chio, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Fallini, C., Gkazi, A. S., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., Mclaughlin, R. L., Polak, M., Asress, S., Esteban-Perez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Soraru, G., Williams, K. L., Nicholson, G. A., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R., Talbot, K., Taroni, F., Garcia-Redondo, A., Wu, Z., Glass, J. D., Ratti, A., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibson, S. B., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M., Zucchi, E., Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Palvadeau, Robin, Johnson, Janel O., Chia, Ruth, Miller, Danny E., Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E., Topp, Simon D., Gibbs, J. Raphael, Cookson, Mark R., Sabir, Marya S., Dalgard, Clifton L., Troakes, Claire, Jones, Ashley R., Shatunov, Aleksey, Lacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P., Dobson-Stone, Carol, Kwok, John B., Bonkowski, Emily S., Tienari, Pentti J., Morrison, Karen E., Shaw, Pamela J., Al-Chalabi, Ammar, Jr, Robert H. Brown, Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J., Perlman, Seth J., Glass, Ian, Scott, Anna, I., Landers, John E., Chio, Adriano, Crawford, Thomas O., Smith, Bradley N., Traynor, Bryan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Johnson, J, Chia, R, Miller, D, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A, Topp, S, Gibbs, J, Cookson, M, Sabir, M, Dalgard, C, Troakes, C, Jones, A, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I, Dobson-Stone, C, Kwok, J, Bonkowski, E, Palvadeau, R, Tienari, P, Morrison, K, Shaw, P, Al-Chalabi, A, Brown, R, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I, Perlman, S, Glass, I, Scott, A, Shaw, C, Basak, A, Landers, J, Chiò, A, Crawford, T, Smith, B, Traynor, B, Fallini, C, Gkazi, A, Scotter, E, Kenna, K, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A, McKenna-Yasek, D, Mclaughlin, R, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K, Nicholson, G, Leblond-Manry, C, Rouleau, G, Hardiman, O, Veldink, J, van den Berg, L, Pall, H, Turner, M, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J, Ratti, A, Adeleye, A, Soltis, A, Alba, C, Viollet, C, Bacikova, D, Hupalo, D, Sukumar, G, Pollard, H, Wilkerson, M, Martinez, E, Ahmed, S, Arepalli, S, Baloh, R, Bowser, R, Brady, C, Brice, A, Broach, J, Campbell, R, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V, Dunckley, T, Eicher, J, England, B, Faghri, F, Feldman, E, Floeter, M, Fratta, P, Geiger, J, Gerhard, G, Gibson, S, Hardy, J, Harms, M, Heiman-Patterson, T, Hernandez, D, Jansson, L, Kirby, J, Kowall, N, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D, Maragakis, N, Mouzat, K, Murphy, N, Myllykangas, L, Nalls, M, Orrell, R, Ostrow, L, Pamphlett, R, Pickering-Brown, S, Pioro, E, Pletnikova, O, Pliner, H, Pulst, S, Ravits, J, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J, Scholz, S, Sendtner, M, Sidle, K, Simmons, Z, Singleton, A, Smith, N, Stone, D, Troncoso, J, Valori, M, Van Damme, P, Van Deerlin, V, Van Den Bosch, L, Zinman, L, Angelocola, S, Ausiello, F, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, T, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, F, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, F, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, M, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E, HUS Neurocenter, Department of Neurosciences, Clinicum, Neurologian yksikkö, TRIMM - Translational Immunology Research Program, Pentti Tienari / Principal Investigator, Human Genetics, ARD - Amsterdam Reproduction and Development, ANS - Complex Trait Genetics, Johnson, Janel O, Miller, Danny E, Renton, Alan E, Topp, Simon D, Gibbs, J Raphael, Cookson, Mark R, Sabir, Marya S, Dalgard, Clifton L, Jones, Ashley R, Iacoangeli, Alfredo, Blair, Ian P, Kwok, John B, Bonkowski, Emily S, Tienari, Pentti J, Morrison, Karen E, Shaw, Pamela J, Brown, Robert H, Chang, Irene J, Perlman, Seth J, Scott, Anna I, Shaw, Christopher E, Basak, A Nazli, Landers, John E, Chiò, Adriano, Crawford, Thomas O, Smith, Bradley N, Traynor, Bryan J, Fallini, Claudia, Gkazi, Athina Soragia, Scotter, Emma L, Kenna, Kevin P, Keagle, Pamela, Tiloca, Cinzia, Vance, Caroline, Colombrita, Claudia, King, Andrew, Pensato, Viviana, Castellotti, Barbara, Baas, Frank, Ten Asbroek, Anneloor L M A, McKenna-Yasek, Diane, Mclaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesú, Stevic, Zorica, D'Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Rademakers, Rosa, van Blitterswijk, Marka, Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L, Nicholson, Garth A, Leblond-Manry, Claire, Rouleau, Guy A, Hardiman, Orla, Veldink, Jan H, van den Berg, Leonard H, Pall, Hardev, Turner, Martin R, Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D, Ratti, Antonia, Adeleye, Adelani, Soltis, Anthony R, Alba, Camille, Viollet, Coralie, Bacikova, Dagmar, Hupalo, Daniel N, Sukumar, Gauthaman, Pollard, Harvey B, Wilkerson, Matthew D, Martinez, Elisa McGrath, Ahmed, Sarah, Arepalli, Sampath, Baloh, Robert H, Bowser, Robert, Brady, Christopher B, Brice, Alexi, Broach, Jame, Campbell, Roy H, Camu, William, Cooper-Knock, John, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E, Dunckley, Travis L, Eicher, John D, England, Bryce K, Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Geiger, Joshua T, Gerhard, Glenn, Gibson, Summer B, Hardy, John, Harms, Matthew B, Heiman-Patterson, Terry D, Hernandez, Dena G, Jansson, Lilja, Kirby, Janine, Kowall, Neil W, Laaksovirta, Hannu, Landeck, Natalie, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Macgowan, Daniel J L, Maragakis, Nicholas J, Mouzat, Kevin, Murphy, Natalie A, Myllykangas, Liisa, Nalls, Mike A, Orrell, Richard W, Ostrow, Lyle W, Pamphlett, Roger, Pickering-Brown, Stuart, Pioro, Erik P, Pletnikova, Olga, Pliner, Hannah A, Pulst, Stefan M, Ravits, John M, Rivera, Alberto, Robberecht, Wim, Rogaeva, Ekaterina, Rollinson, Sara, Rothstein, Jeffrey D, Scholz, Sonja W, Sendtner, Michael, Sidle, Katie C, Simmons, Zachary, Singleton, Andrew B, Smith, Nathan, Stone, David J, Troncoso, Juan C, Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M, Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M, Ausiello, Francesco P, Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A, Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L, Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Dalla Bella, Eleonora, D'Errico, Eustachio, Demarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M, Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O, Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Mosca, Lorena, Murru, Maria R, Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, and Zucchi, Elisabetta
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Hereditary sensory neuropathy ,L-serine ,Mutations ,Deoxysphingolipids ,Accumulation ,Enzyme complex ,Juvenile amyotrophic lateral sclerosis ,Serine C-Palmitoyltransferase ,Whole Exome Sequencing ,0302 clinical medicine ,Medicine ,Family history ,Amyotrophic lateral sclerosis ,Child ,Index case ,Exome sequencing ,Original Investigation ,0303 health sciences ,Neurosciences and neurology ,3. Good health ,Child, Preschool ,Failure to thrive ,Female ,medicine.symptom ,Life Sciences & Biomedicine ,L-SERINE ,Comments ,Human ,Adult ,medicine.medical_specialty ,Adolescent ,Amyotrophic Lateral Sclerosis ,Genetic Predisposition to Disease ,Humans ,Mutation ,Young Adult ,Clinical Neurology ,NO ,03 medical and health sciences ,DEOXYSPHINGOLIPIDS ,Internal medicine ,Exome Sequencing ,Online First ,Juvenile ,Preschool ,030304 developmental biology ,ACCUMULATION ,Science & Technology ,SPTLC1 ,business.industry ,MUTATIONS ,Research ,3112 Neurosciences ,medicine.disease ,HEREDITARY SENSORY NEUROPATHY ,juvenile ,3111 Biomedicine ,Neurology (clinical) ,Neurosciences & Neurology ,ALS ,genetic ,business ,030217 neurology & neurosurgery ,Amyotrophic Lateral Sclerosi - Abstract
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder., This genetic association study identifies genetic variants associated with juvenile amyotrophic lateral sclerosis., Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members. Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.
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- 2021
26. Lipoprotein metabolism in Alzheimer’s disease: CSF and plasma HDL characterization in an Italian cohort
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Turri, M., primary, Pavanello, C., additional, Gastoldi, F., additional, Conti, E., additional, Emide, D., additional, Barbiroli, A., additional, Tremolizzo, L., additional, and Calabresi, L., additional
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- 2022
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27. Cerebrospinal fluid and serum HDL cholesterol efflux capacity is impaired in neurodegenerative disorders
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Marchi, C., primary, Adorni, M.P., additional, Conti, E., additional, Tremolizzo, L., additional, Calabresi, L., additional, Bernini, F., additional, and Zimetti, F., additional
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- 2022
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28. Burden of rare variants in ALS and axonal hereditary neuropathy genes influence survival in ALS: Insights from a next generation sequencing study of an Italian ALS cohort
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Scarlino, S, Domi, T, Pozzi, L, Romano, A, Pipitone, G, Falzone, Y, Mosca, L, Penco, S, Lunetta, C, Sansone, V, Tremolizzo, L, Fazio, R, Agosta, F, Filippi, M, Carrera, P, Riva, N, Quattrini, A, Scarlino S., Domi T., Pozzi L., Romano A., Pipitone G. B., Falzone Y. M., Mosca L., Penco S., Lunetta C., Sansone V., Tremolizzo L., Fazio R., Agosta F., Filippi M., Carrera P., Riva N., Quattrini A., Scarlino, S, Domi, T, Pozzi, L, Romano, A, Pipitone, G, Falzone, Y, Mosca, L, Penco, S, Lunetta, C, Sansone, V, Tremolizzo, L, Fazio, R, Agosta, F, Filippi, M, Carrera, P, Riva, N, Quattrini, A, Scarlino S., Domi T., Pozzi L., Romano A., Pipitone G. B., Falzone Y. M., Mosca L., Penco S., Lunetta C., Sansone V., Tremolizzo L., Fazio R., Agosta F., Filippi M., Carrera P., Riva N., and Quattrini A.
- Abstract
Although the genetic architecture of amyotrophic lateral sclerosis (ALS) is incompletely understood, recent findings suggest a complex model of inheritance in ALS, which is consistent with a multistep pathogenetic process. Therefore, the aim of our work is to further explore the architecture of ALS using targeted next generation sequencing (NGS) analysis, enriched in motor neuron diseases (MND)-associated genes which are also implicated in axonal hereditary motor neuropathy (HMN), in order to investigate if disease expression, including the progression rate, could be influenced by the combination of multiple rare gene variants. We analyzed 29 genes in an Italian cohort of 83 patients with both familial and sporadic ALS. Overall, we detected 43 rare variants in 17 different genes and found that 43.4% of the ALS patients harbored a variant in at least one of the investigated genes. Of note, 27.9% of the variants were identified in other MND-and HMN-associated genes. Moreover, multiple gene variants were identified in 17% of the patients. The burden of rare variants is associated with reduced survival and with the time to reach King stage 4, i.e., the time to reach the need for percutaneous endoscopic gastrostomy (PEG) positioning or non-invasive mechanical ventilation (NIMV) initiation, independently of known negative prognostic factors. Our data contribute to a better understanding of the molecular basis of ALS supporting the hypothesis that rare variant burden could play a role in the multistep model of disease and could exert a negative prognostic effect. Moreover, we further extend the genetic landscape of ALS to other MND-associated genes traditionally implicated in degenerative diseases of peripheral axons, such as HMN and CMT2.
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- 2020
29. Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR
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Peters, S, Vlaanderen, J, Portengen, L, Vermeulen, R, Visser, A, Veldink, J, Van Den Berg, L, D'Ovidio, F, Chio, A, Beghi, E, Pupillo, E, Logroscino, G, Hardiman, O, Van Der Kooi, A, Raaphorst, J, Calvo, A, Moglia, C, Casale, F, Fuda, G, Canosa, A, Manera, U, Bombaci, A, Grassano, M, Vasta, R, Salamone, P, Marrali, G, Iazzolino, B, Mazzini, L, Rooney, J, Heverin, M, Vajda, A, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Filosto, M, Cotelli, M, Rinaldi, F, Chiveri, L, Guaita, M, Perrone, P, Mauro, C, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, M, Bono, G, Tortelli, R, Zecca, C, Peters S., Vlaanderen J., Portengen L., Vermeulen R., Visser A. E., Veldink J. H., Van Den Berg L. H., D'Ovidio F., Chio A., Beghi E., Pupillo E., Logroscino G., Hardiman O., Van Der Kooi A. J., Raaphorst J., Calvo A., Moglia C., Casale F., Fuda G., Canosa A., Manera U., Bombaci A., Grassano M., Vasta R., Salamone P., Marrali G., Iazzolino B., Mazzini L., Rooney J., Heverin M., Vajda A., Comi G., Riva N., Lunetta C., Gerardi F., Filosto M., Cotelli M. S., Rinaldi F., Chiveri L., Guaita M. C., Perrone P., Mauro C., Diamanti L., Ferrarese C., Tremolizzo L., Delodovici M. L., Bono G., Tortelli R., Zecca C., Peters, S, Vlaanderen, J, Portengen, L, Vermeulen, R, Visser, A, Veldink, J, Van Den Berg, L, D'Ovidio, F, Chio, A, Beghi, E, Pupillo, E, Logroscino, G, Hardiman, O, Van Der Kooi, A, Raaphorst, J, Calvo, A, Moglia, C, Casale, F, Fuda, G, Canosa, A, Manera, U, Bombaci, A, Grassano, M, Vasta, R, Salamone, P, Marrali, G, Iazzolino, B, Mazzini, L, Rooney, J, Heverin, M, Vajda, A, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Filosto, M, Cotelli, M, Rinaldi, F, Chiveri, L, Guaita, M, Perrone, P, Mauro, C, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, M, Bono, G, Tortelli, R, Zecca, C, Peters S., Vlaanderen J., Portengen L., Vermeulen R., Visser A. E., Veldink J. H., Van Den Berg L. H., D'Ovidio F., Chio A., Beghi E., Pupillo E., Logroscino G., Hardiman O., Van Der Kooi A. J., Raaphorst J., Calvo A., Moglia C., Casale F., Fuda G., Canosa A., Manera U., Bombaci A., Grassano M., Vasta R., Salamone P., Marrali G., Iazzolino B., Mazzini L., Rooney J., Heverin M., Vajda A., Comi G., Riva N., Lunetta C., Gerardi F., Filosto M., Cotelli M. S., Rinaldi F., Chiveri L., Guaita M. C., Perrone P., Mauro C., Diamanti L., Ferrarese C., Tremolizzo L., Delodovici M. L., Bono G., Tortelli R., and Zecca C.
- Abstract
Background We investigated the association between cigarette smoking and risk of amyotrophic lateral sclerosis (ALS) in a pooled analysis of population-based case-control studies and explored the independent effects of intensity, duration and time-since-quitting. Methods ALS cases and controls, matched by age, sex and region, were recruited in the Netherlands, Italy and Ireland (∗Euro-MOTOR project). Demographics and detailed lifetime smoking histories were collected through questionnaires. Effects of smoking status, intensity (cigarettes/day), duration (years), pack-years and time-since-quitting (years) on ALS risk were estimated using logistic regression models, adjusting for age, sex, alcohol, education and centre. We further investigated effect modification of the linear effects of pack-years by intensity, duration and time-since-quitting using excess OR (eOR) models. Results Analyses were performed on 1410 cases and 2616 controls. Pack-years were positively associated with ALS risk; OR=1.26 (95%CI: 1.03 to 1.54) for the highest quartile compared with never smokers. This association appeared to be predominantly driven by smoking duration (p trend=0.001) rather than intensity (p trend=0.86), although the trend for duration disappeared after adjustment for time-since-quitting. Time-since-quitting was inversely related to ALS (p trend <0.0001). The eOR decreased with time-since-quitting smoking, until about 10 years prior to disease onset. High intensity smoking with shorter duration appeared more deleterious than lower intensity for a longer duration. Conclusions Our findings provide further support for the association between smoking and ALS. Pack-years alone may be insufficient to capture effects of different smoking patterns. Time-since-quitting appeared to be an important factor, suggesting that smoking may be an early disease trigger.
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- 2020
30. Understanding Factors Associated With Psychomotor Subtypes of Delirium in Older Inpatients With Dementia
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Morandi, A, Zambon, A, Di Santo, S, Mazzone, A, Cherubini, A, Mossello, E, Bo, M, Marengoni, A, Bellelli, G, Rispoli, V, Malara, A, Spadea, F, Di Cello, S, Ceravolo, F, Fabiano, F, Chiaradia, G, Gabriele, A, Lenino, P, Andrea, T, Settembrini, V, Capomolla, D, Citrino, A, Scriva, A, Bruno, I, Secchi, R, De Martino, E, Muccinelli, R, Lupi, G, Paonessa, P, Fabbri, A, Passuti, M, Castellari, S, Po, A, Gaggioli, G, Varesi, M, Moneti, P, Capurso, S, Latini, V, Ghidotti, S, Riccardelli, F, Macchi, M, Rigo, R, Claudio, P, Angelo, B, Flavio, C, Benedetta, B, Boffelli, S, Cassinadri, A, Franzoni, S, Spazzini, E, Andretto, D, Tonini, G, Andreani, L, Coralli, M, Balotta, A, Cancelliere, R, Ballardini, G, Simoncelli, M, Mancini, A, Strazzacapa, M, Fabio, S, De Filippi, F, Giudice, C, Dentizzi, C, Azzini, M, Cazzadori, M, Mastroeni, V, Bertassello, P, Claudia Benati, H, Nesta, E, Tobaldini, C, Guerini, F, Elena, T, Mombelloni, P, Fontanini, F, Gabriella, L, Pizzorni, C, Oliverio, M, Del Grosso, L, Giavedoni, C, Bidoli, G, Mazzei, B, Corsonello, A, Fusco, S, Vena, S, De Vuono, T, Maiuri, G, Luca, F, Andrea, A, Giovanni, S, Rossella, N, Castegnaro, E, De Rosa, S, Sechi, R, Benvenuti, E, Del Lungo, I, Giardini, S, Giulietti, C, Mauro, D, Eleonora, B, Martina, P, Irene, F, Riccardo, B, Federica, S, Ilaria, D, Bertoletti, E, D'Amico, F, Caronzolo, F, Grippa, A, Lombardo, G, Pipicella, T, Antonino, S, Francesco, C, Valeria, P, Daniela, L, Domenico, C, Giorgio, B, March, A, Nitti, M, Felici, A, Pavan, S, Piazzani, F, Lunelli, A, Dimori, S, Margotta, A, Soglia, T, Postacchini, D, Brunelli, R, Santini, S, Francavilla, M, Macchiati, I, Sorvillo, F, Giuli, C, Mecocci, P, Longo, A, Perticone, F, Addesi, D, Rosa, P, Bencardino, G, Falbo, T, Grillo, N, Marco, F, Mirella, F, Fanto, F, Isaia, G, Pezzilli, S, Bergamo, D, Furno, E, Rrodhe, S, Lucarini, S, Dijk, B, Dall'Acqua, F, Cappelletto, F, Calvani, D, Becheri, D, Giuseppe, M, Costanza, M, Vito, A, Francesca, B, Magherini, L, Novella, M, Franca, B, Lucia Gambardella, P, Valente, C, Ilaria, B, Alice, F, Porrino, P, Ceci, G, Giuliana, B, Michela, T, Eleonora, C, Ettore, E, Camellini, C, Servello, A, Grassi, A, Rozzini, R, Tironi, S, Grassi, M, Troisi, E, Carlo, C, Simona Gabriella, D, Flaminia, F, Federica, R, Beatrice, P, Sofia, T, Gabutto, A, Quazzo, L, Rosatello, A, Suraci, D, Tagliabue, B, Perrone, C, Ferrara, L, Castagna, A, Tremolada, M, Giuseppe, C, Stefano, B, Davide, O, Piano, S, Serviddio, G, Lo Buglio, A, Gurrera, T, Merlo, V, Rovai, C, Cotroneo, A, Carlucci, R, Abbaldo, A, Monzani, F, Qasem, A, Bini, G, Tafuto, S, Galli, G, Bruni, A, Mancuso, G, Calipari, D, Giuseppe Massimiliano, D, Bernardini, B, Corsini, C, Michele, C, Sara, D, Cagnin, A, Fragiacomo, F, Pompanin, S, Piero, A, Marco, C, Zurlo, A, Guerra, G, Pala, M, Menozzi, L, Gatti, C, Magon, S, Roberto, M, Alfredo, D, Fabio, F, Ruana, T, Elisa, M, Christian, M, Marco, P, Massimo, G, Di Francesco, V, Faccioli, S, Pellizzari, L, Giorgia, F, Barbagallo, G, Lunardelli, M, Martini, E, Ferrari, E, Macchiarulo, M, Corneli, M, Bacci, M, Battaglia, G, Anastasio, L, Lo Storto, M, Seresin, C, Simonato, M, Loreggian, M, Cestonaro, F, Durando, M, Latella, R, Mazzoleni, M, Russo, G, Ponte, M, Valchera, A, Salustri, G, Petritola, D, Costa, A, Sinforiani, E, Cotta, M, Pizio, R, Cester, A, Formilan, M, Pietro, B, Carbone, P, Cazzaniga, I, Appollonio, I, Cereda, D, Stabile, A, Xhani, R, Acampora, R, Tremolizzo, L, Federico, P, Antonio, C, Valerio, P, Cesare, B, Zhirajr, M, Giovanni, V, Maria, A, Mariaelena, S, Bottacchi, E, Bucciantini, E, Di Giovanni, M, Franchi, F, Lucchetti, L, Mariani, C, Grande, G, Rapazzini, P, Marco, M, Romanelli, G, Franco, N, Alessio, M, Nicola, L, Laura, P, Nazario, P, Chiara, G, Soccorso, P, Andrea, S, Luca, B, Francesca, S, Roberto, A, Anna, C, Fugazza, L, Guerrini, C, De Paduanis, G, Iallonardo, L, Palumbo, P, Zuliani, G, Ortolani, B, Capatti, E, Soavi, C, Bianchi, L, Francesconi, D, Miselli, A, Gloria, B, Tommaso, R, Chiara, P, Agata, M, Marco, D, Luca, M, Gianluca, G, Suardi, T, Zaccarini, C, Manuela, R, Mirra, G, Muti, E, Bottura, R, Gianpaolo, M, Secreto, P, Bisio, E, Cecchettani, M, Naldi, T, Pallavicino, A, Pugliese, M, Iozzo, R, Grassi, G, Bombelli, M, Dell'Oro, R, Quarti Trevano, F, Giussani, G, Paternò, G, Contro, E, Mannironi, A, Giorli, E, Oberti, S, Fierro, B, Piccoli, T, Giacalone, F, Mandas, A, Serchisu, L, Costaggiu, D, Pinna, E, Orru, F, Mannai, M, Cordioli, Z, Pelizzari, L, Turcato, E, Arduini, P, Cacace, C, Chiloiro, R, Cimino, R, Ruberto, C, Giovanni, R, Pietro, G, Laura, G, Alberto, C, Carmen, R, Santo, P, Andriolli, A, Burattin, G, Rossi, L, Andreolli Antonino, C, Tezza, F, Maddalena, P, Laura, S, Crippa, P, Aloisio, P, Di Monda, T, Malighetti, A, Galbassini, G, Salutis, D, Ivaldi, C, Russo, A, Bennati, E, Pino, E, Zavarise, G, Pesci, A, Suigo, G, Faverio, P, Andrea, G, Sabrina, P, Zanasi, M, Moniello, G, Rostagno, C, Cartei, A, Polidori, G, Ungar, A, Melis, M, Martellini, E, Enrico, M, Monica, T, Antonella, G, Giovanna, L, Migliorini, M, Caramelli, F, Battiston, B, Berardino, M, Cavallo, S, Alessandro, M, Anna, S, Lombardi, B, D'Ippolito, P, Furini, A, Villani, D, Clara, R, Guarneri, M, Paolucci, S, Bassi, A, Coiro, P, De Angelis, D, Morone, G, Venturiero, V, Palleschi, L, Raganato, P, Di Niro, G, Rosa, C, Loredana, B, Imoscopi, A, Tibaldi, V, Bottignole G, G, Calvi, E, Clementi, C, Zanocchi, M, Agosta, L, Nortarelli, A, Provenzano, G, Mari, D, Romano, F, Rosini, F, Mansi, M, Rossi, S, Geriatria, A, Inzaghi, L, Bonini, G, Rossi, P, Potena, A, Lichii, M, Candiani, T, Grimaldi, W, Bertani, E, Alessandra, P, Calogero, P, Pinto, D, Bernardi, R, Nicolino, F, Galetti, C, Gianstefani, A, Giulia, C, Lorenzo, M, Odetti, P, Monacelli, F, Prefumo, M, Fiammetta, M, Canepa, M, Minaglia, C, Paolisso, G, Rizzo, M, Prestano, R, Dalise, A, Barra, D, Bosco, L, Asprinio, V, Dallape, L, Perina, E, Incalzi, R, Bartoli, I, Pluderi, A, Maina, A, Pecoraro, E, Sciarra, M, Prudente, A, Paola, M, Francesca, M, Manuel, V, Luisella, C, Maria, P, Tina, S, Benini, L, Levato, F, Mhiuta, V, Alius, F, Davidoaia, D, Giardini, V, Garancini, M, Bellamoli, C, Terranova, L, Bozzini, C, Tosoni, P, Provoli, E, Cascone, L, Dioli, A, Ferrarin, G, Bucci, A, Bua, G, Fenu, S, Bianchi, G, Casella, S, Romano, V, Maurizio, P, Mascherona, I, Belotti, G, Cavaliere, S, Cuni, E, Merciuc, N, Oberti, R, Veneziani, S, Capoferri, E, De Bernardi, E, Colombo, K, Bravi, M, Nicoletta, N, D'Arcangelo, P, Montenegro, N, Montanari, R, Lamanna, P, Gasperini, B, Isabella, M, Stefania, D, Gaia, A, Filippo, C, Palama, C, Di Emidio, C, Scarpini, E, Arighi, A, Fumagalli, G, Basilico, P, De Amicis Margherita, M, Marta, M, Diletta, M, Granata, A, Ranalli, C, Cammilli, A, Cavallini, M, Tricca, M, Natella, D, Gabbani, L, Tesi, F, Martella, L, Imbrici, R, Guerrini, G, Scotuzzi, A, Sozzi, F, Valenti, L, Chiarello, A, Monia, M, Pilotto, A, Prete, C, Senesi, B, Meta, A, Pendenza, E, Pasqualetti, G, Polini, A, Tognini, S, Ballino, E, Dell'Aquila, G, Gasparrini, P, Marotti, E, Migale, M, Scrimieri, A, Falsetti, L, Salvi, A, Toigo, G, Ceschia, G, Rosso, A, Tongiorgi, C, Scarpa, C, De Dominicis, L, Pucci, E, Renzi, S, Cartechini, E, Tomassini, P, Del Gobbo, M, Ugenti, F, Romeo, P, Nardelli, A, Lauretani, F, Visioli, S, Montanari, I, Ermini, F, Giordano, A, Pigato, G, Simeone, E, Barbujani, M, Giampieri, M, Amoruso, R, Piccinini, M, Ferrari, C, Gambetti, C, Sfrappini, M, Semeraro, L, Striuli, R, Pelliccioni, G, Marinelli, D, Fabi, K, Rossi, T, Pesallaccia, M, Sabbatini, D, Gobbi, B, Cerqua, R, Tagliani, G, Schlauser, E, Caser, L, Caramello, E, Sandigliano, F, Rosso, G, Ferrari, A, Bendini, C, Luisa, D, Casella, M, Prampolini, R, Scevola, M, Vitale, E, Roberto, B, Carlo, F, Sergio, F, Alberto, S, Daniela, Z, Giulia, B, Serena, G, Michele, B, Maugeri, D, Sorace, R, Anzaldi, M, De Gesu, R, Morrone, G, Davolio, F, Fabbo, A, Palmieri, M, Zoli, M, Forti, P, Pirazzoli, L, Fabbri, E, Terenzi, L, Bergolari, F, Wenter, C, Ruffini, I, Insam, M, Abraham, E, Kirchlechner, C, Cucinotta, D, Antonino, L, Basile, G, Grazia, A, Parise, P, Boccali, A, Amici, S, Gambacorta, M, Lasagni, A, Lovati, R, Giovinazzo, F, Kimak, E, Zappa, P, Medici, F, Lo Castro, M, Mauro, F, De Luca, A, Sancesario, G, Martorana, A, Scaricamazza, B, Toniolo, S, Di Lorenzo, F, Liguori, C, Lasco, A, Vita, N, Giomi, M, Forte, F, Padovani, A, Rozzini, L, Ceraso, A, Salvatore, C, Cottino, M, Vitali, S, Marelli, E, Tripi, G, Miceli, S, Urso, G, Grioni, G, Vezzadini, G, Misaggi, G, Forlani, C, Avanzi, S, Serena, S, Claudia, C, Marilena, V, Alberto, L, Diego, G, Alessandro, G, Iemolo, F, Sanzaro, E, D'Asta, G, Proietto, M, Carnemolla, A, Razza, G, Spadaro, D, Bertolotti, M, Mussi, C, Neviani, F, Roberto, C, Valentina, G, Linda, M, Francesca, V, Tarozzi, A, Balestri, F, Mannarino, G, Bigolari, M, Natale, A, Grassi, S, Bottaro, C, Stefanelli, S, Bovone, U, Tortorolo, U, Quadri, R, Leone, G, Ponzetto, M, Frasson, P, Annoni, G, Confalonieri, R, Corsi, M, Moretti, D, Teruzzi, F, Umidi, S, Mazzola, P, Perego, S, Persico, I, Olivieri, G, Bonfanti, A, Hajnalka, S, Galeazzi, M, Massariello, F, Anzuini, A, Caffarra, P, Barocco, F, Spallazzi, M, Paolo, C, Simonetta, M, Chioatto, P, Bortolamei, S, Soattin, L, Ruotolo, G, Beneamino, B, Giuseppe, B, Bertazzoli, M, Rota, E, Adobati, A, Scarpa, A, Granziera, S, Zuccher, P, Fabbro, A, Zara, D, Lo Nigro, A, Franchetti, L, Toniolo, M, Marcuzzo, C, Rollone, M, Guerriero, F, Sgarlata, C, Masse, A, Zatti, G, Piatti, M, Graci, J, Benati, G, Boschi, F, Biondi, M, Fiumi, N, Erika, T, Locatelli, S, Mauri, S, Beretta, M, Margheritis, L, Desideri, G, Liberatore, E, Carucci, A, Bonino, P, Caput, M, Antonietti, M, Polistena, G, De la Pierre, F, Mari, M, Massignani, P, Tombesi, F, Selvaggio, F, Verbo, B, Bodoni, P, Marchionni, N, Sabatini, T, Mussio, E, Magni, E, Bianchetti, A, Crucitti, A, Titoldini, G, Cossu, B, Fascendini, S, Licini, C, Tomasoni, A, Calderazzo, M, Daniela, T, Valentina, L, Melotti, R, Lilli, A, Buda, S, Adversi, M, Noro, G, Turco, R, Ubezio, M, Mantovani, A, Viola, M, Serrati, C, Pretta, S, Infante, M, Gentile, S, D'Ambrosio, V, Mazzanti, P, Brambilla, C, Sportelli, S, Platto, C, Faraci, B, Quattrocchi, D, Pernigotti, L, Pisu, C, Sicuro, F, Zagnoni, P, Ghiglia, S, Mosca, M, Corazzin, I, Deola, M, Biagini, C, Bencini, F, Cantini, C, Tonon, E, Pierinelli, S, Onofrj, M, Thomas, A, Filomena, B, Bonanni, L, Gabriella, C, Comi, G, Magnani, G, Santangelo, R, Mazzeo, S, Francesca, C, Giordano, C, Roberto, S, Barbieri, C, Giroldi, L, Bandini, F, Masina, M, Malservisi, S, Cicognani, A, Ricca, L, Piccininni, M, Tassinari, T, Brogi, D, Sugo, A, Alessandra, F, Sonia, M, Valerio, V, Andrea, U, Enrico, C, Vera, R, Assunta, S, Gianmaria, Z, Mauro, P, Barone, A, Razzano, M, Giuseppe, I, Angela, B, Francesco, S, Valeria, D, Federico, G, Lucia, P, Antonella, V, Elisabetta, D, Cristina, R, Nadia, C, Maria, S, Luciano, A, Chiara, C, Bini, P, Pignata, M, Enrico, B, Maria, V, Giovanni, C, Giorgio, C, Piera, R, Alberto, Z, Ceccon, A, Magrin, L, Marin, S, Barbara, S, Matteo, M, Caterina, P, Carla, R, Federica, G, Clara, T, Melania, C, Giampaolo, B, Stefano, G, Valeria, G, Lucia, M, Giovambattista, D, Ester, L, Cecilia, C, Maurizio, T, Nadia, B, Grillo, A, Arenare, F, Tonino, M, David, K, Giorgio, V, Ubaldo, B, Vincenzo, S, Stefano, M, Marino, F, Busonera Flavio, M, Paolo, A, Monica, M, Francesco, B, Roberto, F, Paolo, B, Durantemangoni, E, Testoni, M, Fabio, D, Loredana, S, Valeria, S, Fabiano, M, Annabella, D, Salvatore, D, Greco, A, Grazia, D, Daniele, S, Gianluca, R, Renzo, G, Sergio, M, Morena, B, Vitali, M, Marina, P, Paolo, D, Cristina, S, Orlandini, F, La Regina, M, Desiree, A, Mario, B, Paola, P, Padulo, F, Cristina, M, Dario, R, Giancarla, M, Guido, R, Elena, M, Marileda, N, Igor, B, Nicole, B, Elena, R, Paolillo, C, Riccardi, A, Claudia, B, Barbara, R, Silvia, V, Oliver, B, Mauro, C, Eleonora, M, Giuseppe, P, Rosaria, T, Maria, C, Davide, D, Stefania, C, Massimo, P, Luca, S, Martina, D, Paola, V, Lia, S, Sandro, C, Valentina, D, Erminia, B, Paola, C, Romina, R, Minisola, S, Luciano, C, Pasquale, A, Ilaria, L, Guglielmo, S, Marco, E, Sara, R, Paola, A, Claudio, A, Francesco, R, Alessandro, C, Simona, M, Lara, F, Paola, R, Simonetta, C, Antonella, C, Generoso, U, Fernando, G, Giuliano, C, Emanuela, S, Mariolina, S, Alessandro, D, Giulia, L, Famularo, S, Sandini, M, Pinotti, E, Gianotti, L, Antonella, B, Giulia, P, Sante, G, Rossi, A, Rubele, S, Sant, S, Marco, V, Danila, C, Fabio, R, Bandirali, M, Nicoletta, C, Laura, B, Paolo, T, Luciano, T, Leonello, A, Margherita, S, Pierluigi, D, Laura, R, Fabiana, T, Giovanna, C, Antonino, A, Felice, C, Danilo, F, Giovanna, D, Francesco, L, Salini, S, Giorgetta, C, Giovanni, G, Gerardo, B, Silvio, R, Letizia, S, Davide, B, Rosaria, R, Maria, D, Raffaele, P, Palmieri, V, Palasciano, G, Belfiore, A, Portincasa, P, Carlo, S, Alessia, D, Valiani, V, Carolina, B, Tiziana, C, Paola, T, Ugo, P, Giacomo, P, Castellano, M, Anna, G, Elisa, C, Federica, C, Antonietta, C, Luigi, M, Fabio, L, Salvatore, B, Gelosa, G, Viviana, A, Piras, V, Andrea, C, Alessandra, B, Coen, D, Magliola, R, Milanesio, D, Muzzulini, C, Paolo, F, Marinella, T, Sofia, C, Marta, B, Siano, P, Capo, G, Napoletano, R, Cecilia, P, Mancini, C, Del Buono, C, De Bartolomeo, G, Addolorata, M, Carmen, C, Moschettini, G, Franco, M, Daniela, R, D'Amico, G, Mirella, P, Endrizzi, C, Trotta, L, Ciarambino, T, Orazio, Z, Emanuela, T, Marta, S, Thomas, F, Giacomo, T, Ignazio, D, Andrea, B, Giuseppe, O, Emanuela, F, Serena, A, Elena, D, Serena, B, Erika, N, Elena, S, Manuela, P, Francesca, A, Angelo, T, Morandi A., Zambon A., Di Santo S. G., Mazzone A., Cherubini A., Mossello E., Bo M., Marengoni A., Bellelli G., Rispoli V., Malara A., Spadea F., Di Cello S., Ceravolo F., Fabiano F., Chiaradia G., Gabriele A., Lenino P., Andrea T., Settembrini V., Capomolla D., Citrino A., Scriva A., Bruno I., Secchi R., De Martino E., Muccinelli R., Lupi G., Paonessa P., Fabbri A., Passuti M. T., Castellari S., Po A., Gaggioli G., Varesi M., Moneti P., Capurso S., Latini V., Ghidotti S., Riccardelli F., Macchi M., Rigo R., Claudio P., Angelo B., Flavio C., Benedetta B., Boffelli S., Cassinadri A., Franzoni S., Spazzini E., Andretto D., Tonini G., Andreani L., Coralli M., Balotta A., Cancelliere R., Ballardini G., Simoncelli M., Mancini A., Strazzacapa M., Fabio S., De Filippi F., Giudice C., Dentizzi C., Azzini M., Cazzadori M., Mastroeni V., Bertassello P., Claudia Benati H. S., Nesta E., Tobaldini C., Guerini F., Elena T., Mombelloni P., Fontanini F., Gabriella L., Pizzorni C., Oliverio M., Del Grosso L. L., Giavedoni C., Bidoli G., Mazzei B., Corsonello A., Fusco S., Vena S., De Vuono T., Maiuri G., Luca F. F., Andrea A., Giovanni S., Rossella N., Castegnaro E., De Rosa S., Sechi R. B., Benvenuti E., Del Lungo I., Giardini S., Giulietti C., Mauro D. B., Eleonora B., Martina P., Irene F., Riccardo B., Federica S., Ilaria D. L., Bertoletti E., D'Amico F., Caronzolo F., Grippa A., Lombardo G., Pipicella T., Antonino S., Francesco C., Valeria P. G., Daniela L., Domenico C., Giorgio B., March A., Nitti M. T., Felici A., Pavan S., Piazzani F., Lunelli A., Dimori S., Margotta A., Soglia T., Postacchini D., Brunelli R., Santini S., Francavilla M., Macchiati I., Sorvillo F., Giuli C., Mecocci P., Longo A., Perticone F., Addesi D., Rosa P. C., Bencardino G., Falbo T., Grillo N., Marco F., Mirella F., Fanto F., Isaia G., Pezzilli S., Bergamo D., Furno E., Rrodhe S., Lucarini S., Dijk B., Dall'Acqua F., Cappelletto F., Calvani D., Becheri D., Giuseppe M., Costanza M., Vito A., Francesca B., Magherini L., Novella M., Franca B., Lucia Gambardella P. M., Valente C., Ilaria B., Alice F., Porrino P., Ceci G., Giuliana B., Michela T., Eleonora C., Ettore E., Camellini C., Servello A., Grassi A., Rozzini R., Tironi S., Grassi M. G., Troisi E., Carlo C., Simona Gabriella D. S., Flaminia F., Federica R., Beatrice P., Sofia T., Gabutto A., Quazzo L., Rosatello A., Suraci D., Tagliabue B., Perrone C., Ferrara L., Castagna A., Tremolada M. L., Giuseppe C., Stefano B., Davide O., Piano S., Serviddio G., Lo Buglio A., Gurrera T., Merlo V., Rovai C., Cotroneo A. M., Carlucci R., Abbaldo A., Monzani F., Qasem A. A., Bini G., Tafuto S., Galli G., Bruni A. C., Mancuso G., Calipari D., Giuseppe Massimiliano D. L., Bernardini B., Corsini C., Michele C., Sara D. F., Cagnin A., Fragiacomo F., Pompanin S., Piero A., Marco C., Zurlo A., Guerra G., Pala M., Menozzi L., Gatti C. D., Magon S., Roberto M., Alfredo D. G., Fabio F., Ruana T., Elisa M., Christian M., Marco P., Massimo G., Di Francesco V., Faccioli S., Pellizzari L., Giorgia F., Barbagallo G., Lunardelli M. L., Martini E., Ferrari E., Macchiarulo M., Corneli M., Bacci M., Battaglia G., Anastasio L., Lo Storto M. S., Seresin C., Simonato M., Loreggian M., Cestonaro F., Durando M., Latella R., Mazzoleni M., Russo G., Ponte M., Valchera A., Salustri G., Petritola D., Costa A., Sinforiani E., Cotta M. R., Pizio R. N., Cester A., Formilan M., Pietro B., Carbone P., Cazzaniga I., Appollonio I., Cereda D., Stabile A., Xhani R., Acampora R., Tremolizzo L., Federico P., Antonio C., Valerio P., Cesare B., Zhirajr M., Giovanni V., Maria A., Mariaelena S., Bottacchi E., Bucciantini E., Di Giovanni M., Franchi F., Lucchetti L., Mariani C., Grande G., Rapazzini P., Marco M., Romanelli G., Franco N., Alessio M., Nicola L., Laura P., Nazario P., Chiara G., Soccorso P., Andrea S., Luca B., Francesca S., Roberto A., Anna C., Fugazza L., Guerrini C., De Paduanis G., Iallonardo L., Palumbo P., Zuliani G., Ortolani B., Capatti E., Soavi C., Bianchi L., Francesconi D., Miselli A., Gloria B., Tommaso R., Chiara P., Agata M. M., Marco D. A., Luca M., Gianluca G., Suardi T., Zaccarini C., Manuela R., Mirra G., Muti E., Bottura R., Gianpaolo M., Secreto P., Bisio E., Cecchettani M., Naldi T., Pallavicino A., Pugliese M., Iozzo R. C., Grassi G., Bombelli M., Dell'Oro R., Quarti Trevano F., Giussani G. C., Paternò G., Contro E., Mannironi A., Giorli E., Oberti S., Fierro B., Piccoli T., Giacalone F., Mandas A., Serchisu L., Costaggiu D., Pinna E., Orru F., Mannai M., Cordioli Z., Pelizzari L., Turcato E., Arduini P., Cacace C., Chiloiro R., Cimino R., Ruberto C., Giovanni R., Pietro G., Laura G., Alberto C., Carmen R., Santo P. D., Andriolli A., Burattin G., Rossi L., Andreolli Antonino C. G., Tezza F., Maddalena P., Laura S., Crippa P., Aloisio P., Di Monda T., Malighetti A., Galbassini G., Salutis D., Ivaldi C., Russo A. M., Bennati E., Pino E., Zavarise G., Pesci A., Suigo G., Faverio P., Andrea G., Sabrina P., Zanasi M., Moniello G., Rostagno C., Cartei A., Polidori G., Ungar A., Melis M. R., Martellini E., Enrico M., Monica T., Antonella G., Giovanna L., Migliorini M., Caramelli F., Battiston B., Berardino M., Cavallo S., Alessandro M., Anna S., Lombardi B., D'Ippolito P., Furini A., Villani D., Clara R., Guarneri M., Paolucci S., Bassi A., Coiro P., De Angelis D., Morone G., Venturiero V., Palleschi L., Raganato P., Di Niro G., Rosa C. A., Loredana B., Imoscopi A., Tibaldi V., Bottignole G G., Calvi E., Clementi C., Zanocchi M., Agosta L., Nortarelli A., Provenzano G., Mari D., Romano F. Y., Rosini F., Mansi M., Rossi S., Geriatria A. R., Inzaghi L., Bonini G., Rossi P., Potena A., Lichii M., Candiani T., Grimaldi W., Bertani E., Alessandra P., Calogero P., Pinto D., Bernardi R., Nicolino F., Galetti C., Gianstefani A., Giulia C., Lorenzo M., Odetti P., Monacelli F., Prefumo M., Fiammetta M., Canepa M., Minaglia C., Paolisso G., Rizzo M. R., Prestano R., Dalise A. M., Barra D., Bosco L. D., Asprinio V., Dallape L., Perina E., Incalzi R. A., Bartoli I. R., Pluderi A., Maina A., Pecoraro E., Sciarra M., Prudente A., Paola M., Francesca M., Manuel V., Luisella C., Maria P. L., Tina S., Benini L., Levato F., Mhiuta V., Alius F., Davidoaia D., Giardini V., Garancini M., Bellamoli C., Terranova L., Bozzini C., Tosoni P., Provoli E., Cascone L., Dioli A., Ferrarin G., Bucci A., Bua G., Fenu S., Bianchi G., Casella S., Romano V., Maurizio P., Mascherona I., Belotti G., Cavaliere S., Cuni E., Merciuc N., Oberti R., Veneziani S., Capoferri E., De Bernardi E., Colombo K., Bravi M., Nicoletta N., D'Arcangelo P., Montenegro N., Montanari R., Lamanna P., Gasperini B., Isabella M., Stefania D., Gaia A., Filippo C., Palama C., Di Emidio C., Scarpini E., Arighi A., Fumagalli G., Basilico P., De Amicis Margherita M., Marta M., Diletta M., Granata A., Ranalli C., Cammilli A., Cavallini M. C., Tricca M., Natella D., Gabbani L., Tesi F., Martella L., Imbrici R., Guerrini G., Scotuzzi A. M., Sozzi F., Valenti L., Chiarello A., Monia M., Pilotto A., Prete C., Senesi B., Meta A. C., Pendenza E., Pasqualetti G., Polini A., Tognini S., Ballino E., Dell'Aquila G., Gasparrini P. M., Marotti E., Migale M., Scrimieri A., Falsetti L., Salvi A., Toigo G., Ceschia G., Rosso A., Tongiorgi C., Scarpa C., De Dominicis L., Pucci E., Renzi S., Cartechini E., Tomassini P. F., Del Gobbo M., Ugenti F., Romeo P., Nardelli A., Lauretani F., Visioli S., Montanari I., Ermini F., Giordano A., Pigato G., Simeone E., Barbujani M., Giampieri M., Amoruso R., Piccinini M., Ferrari C., Gambetti C., Sfrappini M., Semeraro L., Striuli R., Pelliccioni G., Marinelli D., Fabi K., Rossi T., Pesallaccia M., Sabbatini D., Gobbi B., Cerqua R., Tagliani G., Schlauser E., Caser L., Caramello E., Sandigliano F., Rosso G., Ferrari A., Bendini C., Luisa D. M., Casella M., Prampolini R., Scevola M., Vitale E., Roberto B., Carlo F., Sergio F., Alberto S., Daniela Z., Giulia B., Serena G., Michele B., Maugeri D., Sorace R., Anzaldi M., De Gesu R., Morrone G., Davolio F., Fabbo A., Palmieri M., Zoli M., Forti P., Pirazzoli L., Fabbri E., Terenzi L., Bergolari F., Wenter C., Ruffini I., Insam M., Abraham E., Kirchlechner C., Cucinotta D., Antonino L., Basile G., Grazia A. M., Parise P., Boccali A., Amici S., Gambacorta M., Lasagni A., Lovati R., Giovinazzo F., Kimak E., Zappa P., Medici F., Lo Castro M., Mauro F., De Luca A., Sancesario G., Martorana A., Scaricamazza B., Toniolo S., Di Lorenzo F., Liguori C., Lasco A., Vita N., Giomi M., Forte F., Padovani A., Rozzini L., Ceraso A., Salvatore C., Cottino M., Vitali S., Marelli E., Tripi G., Miceli S., Urso G., Grioni G., Vezzadini G., Misaggi G., Forlani C., Avanzi S., Serena S., Claudia C., Marilena V., Alberto L., Diego G., Alessandro G., Iemolo F., Sanzaro E., D'Asta G., Proietto M., Carnemolla A., Razza G., Spadaro D., Bertolotti M., Mussi C., Neviani F., Roberto C., Valentina G., Linda M., Francesca V., Tarozzi A., Balestri F., Mannarino G., Bigolari M., Natale A., Grassi S., Bottaro C., Stefanelli S., Bovone U., Tortorolo U., Quadri R., Leone G., Ponzetto M., Frasson P., Annoni G., Bruni A., Confalonieri R., Corsi M., Moretti D., Teruzzi F., Umidi S., Mazzola P., Perego S., Persico I., Olivieri G., Bonfanti A., Hajnalka S., Galeazzi M., Massariello F., Anzuini A., Caffarra P., Barocco F., Spallazzi M., Paolo C. G., Simonetta M., Chioatto P., Bortolamei S., Soattin L., Ruotolo G., Beneamino B., Giuseppe B., Bertazzoli M., Rota E., Adobati A., Scarpa A., Granziera S., Zuccher P., Fabbro A. D., Zara D., Lo Nigro A., Franchetti L., Toniolo M., Marcuzzo C., Rollone M., Guerriero F., Sgarlata C., Masse A., Zatti G., Piatti M., Graci J., Benati G., Boschi F., Biondi M., Fiumi N., Erika T., Locatelli S. M., Mauri S., Beretta M., Margheritis L., Desideri G., Liberatore E., Carucci A. C., Bonino P., Caput M., Antonietti M. P., Polistena G., De la Pierre F., Mari M., Massignani P., Tombesi F., Selvaggio F., Verbo B., Bodoni P., Marchionni N., Sabatini T., Mussio E., Magni E., Bianchetti A., Crucitti A., Titoldini G., Cossu B., Fascendini S., Licini C., Tomasoni A., Calderazzo M., Daniela T., Valentina L., Melotti R. M., Lilli A., Buda S., Adversi M., Noro G., Turco R., Ubezio M. C., Mantovani A. R., Viola M. C., Serrati C., Pretta S., Infante M., Gentile S., D'Ambrosio V., Mazzanti P., Brambilla C., Sportelli S., Platto C., Faraci B., Quattrocchi D., Pernigotti L. M., Pisu C., Sicuro F., Zagnoni P., Ghiglia S., Mosca M., Corazzin I., Deola M., Biagini C. A., Bencini F., Cantini C., Tonon E., Pierinelli S., Onofrj M., Thomas A., Filomena B., Bonanni L., Gabriella C., Comi G., Magnani G., Santangelo R., Mazzeo S., Francesca C., Giordano C., Roberto S. A., Barbieri C., Giroldi L., Bandini F., Masina M., Malservisi S., Cicognani A., Ricca L., Piccininni M., Tassinari T., Brogi D., Sugo A., Alessandra F., Sonia M., Valerio V., Andrea U. C., Enrico C., Vera R. F., Assunta S., Gianmaria Z., Mauro P., Barone A., Razzano M., Giuseppe I., Angela B., Francesco S., Valeria D. A., Federico G., Lucia P., Antonella V., Elisabetta D. C., Cristina R., Nadia C., Maria S., Luciano A., Chiara C., Bini P., Pignata M., Enrico B., Maria V., Giovanni C., Giorgio C., Piera R., Alberto Z., Ceccon A., Magrin L., Marin S., Barbara S., Matteo M., Caterina P. M., Carla R., Federica G., Clara T., Melania C., Giampaolo B., Stefano G., Valeria G., Lucia M., Giovambattista D., Ester L., Cecilia C. A., Maurizio T., Nadia B., Grillo A., Arenare F., Tonino M., David K., Giorgio V. P., Ubaldo B., Vincenzo S., Stefano M., Marino F., Busonera Flavio M. T., Paolo A., Monica M., Francesco B., Roberto F., Paolo B., DuranteMangoni E., Testoni M., Fabio D. S., Loredana S., Valeria S., Fabiano M., Annabella D. G., Salvatore D. C., Greco A., Grazia D. O., Daniele S., Gianluca R., Renzo G., Sergio M., Morena B., Vitali M., Marina P., Paolo D. C., Cristina S., Orlandini F., La Regina M., Desiree A., Mario B., Paola P., Padulo F., Cristina M., Dario R., Giancarla M., Guido R., Elena M., Marileda N., Igor B., Nicole B., Elena R., Paolillo C., Riccardi A., Claudia B., Barbara R., Silvia V., Oliver B., Mauro C., Eleonora M., Giuseppe P., Rosaria T., Maria C., Davide D. A., Stefania C., Massimo P., Luca S., Martina D. F., Paola V., Lia S., Sandro C., Valentina D. S., Erminia B., Paola C., Romina R., Minisola S., Luciano C., Pasquale A., Ilaria L., Guglielmo S., Marco E., Sara R., Paola A., Claudio A., Francesco R., Alessandro C., Simona M., Lara F., Paola R., Simonetta C., Antonella C., Generoso U., Fernando G., Giuliano C., Emanuela S., Mariolina S., Alessandro D., Giulia L., Famularo S., Sandini M., Pinotti E., Gianotti L., Antonella B., Giulia P., Sante G., Rossi A., Rubele S., Sant S., Marco V., Danila C., Fabio R., Bandirali M. P., Nicoletta C., Laura B., Paolo T., Luciano T., Leonello A., Margherita S., Stefania D. N., Pierluigi D. S., Laura R., Fabiana T., Giovanna C., Antonino A., Felice C., Danilo F., Giovanna D. B., Francesco L., Salini S., Angela B. M., Giorgetta C., Giovanni G., Gerardo B., Silvio R., Letizia S., Davide B., Rosaria R. M., Maria D. A., Raffaele P., Palmieri V. O., Palasciano G., Belfiore A., Portincasa P., Carlo S., Alessia D., Valiani V., Carolina B., Tiziana C., Paola T., Ugo P., Giacomo P., Castellano M., Anna G., Elisa C., Federica C., Antonietta C. M., Luigi M., Fabio L., Salvatore B., Gelosa G., Viviana A. T., Piras V., Andrea C., Alessandra B., Coen D., Magliola R., Milanesio D., Muzzulini C. L., Paolo F., Marinella T., Sofia C. M., Marta B., Siano P., Capo G., Napoletano R., Cecilia P., Mancini C., Del Buono C., De Bartolomeo G., Addolorata M., Carmen C., Giovanni V. A., Moschettini G., Franco M., Daniela R., D'Amico G., Mirella P., Endrizzi C., Trotta L., Ciarambino T., Orazio Z., Emanuela T., Marta S., Thomas F., Giacomo T., Ignazio D. F., Andrea B., Giuseppe O., Emanuela F., Serena A., Elena D. I., Serena B., Erika N., Roberto S., Elena S., Manuela P., Francesca A., Angelo T., Morandi, A, Zambon, A, Di Santo, S, Mazzone, A, Cherubini, A, Mossello, E, Bo, M, Marengoni, A, Bellelli, G, Rispoli, V, Malara, A, Spadea, F, Di Cello, S, Ceravolo, F, Fabiano, F, Chiaradia, G, Gabriele, A, Lenino, P, Andrea, T, Settembrini, V, Capomolla, D, Citrino, A, Scriva, A, Bruno, I, Secchi, R, De Martino, E, Muccinelli, R, Lupi, G, Paonessa, P, Fabbri, A, Passuti, M, Castellari, S, Po, A, Gaggioli, G, Varesi, M, Moneti, P, Capurso, S, Latini, V, Ghidotti, S, Riccardelli, F, Macchi, M, Rigo, R, Claudio, P, Angelo, B, Flavio, C, Benedetta, B, Boffelli, S, Cassinadri, A, Franzoni, S, Spazzini, E, Andretto, D, Tonini, G, Andreani, L, Coralli, M, Balotta, A, Cancelliere, R, Ballardini, G, Simoncelli, M, Mancini, A, Strazzacapa, M, Fabio, S, De Filippi, F, Giudice, C, Dentizzi, C, Azzini, M, Cazzadori, M, Mastroeni, V, Bertassello, P, Claudia Benati, H, Nesta, E, Tobaldini, C, Guerini, F, Elena, T, Mombelloni, P, Fontanini, F, Gabriella, L, Pizzorni, C, Oliverio, M, Del Grosso, L, Giavedoni, C, Bidoli, G, Mazzei, B, Corsonello, A, Fusco, S, Vena, S, De Vuono, T, Maiuri, G, Luca, F, Andrea, A, Giovanni, S, Rossella, N, Castegnaro, E, De Rosa, S, Sechi, R, Benvenuti, E, Del Lungo, I, Giardini, S, Giulietti, C, Mauro, D, Eleonora, B, Martina, P, Irene, F, Riccardo, B, Federica, S, Ilaria, D, Bertoletti, E, D'Amico, F, Caronzolo, F, Grippa, A, Lombardo, G, Pipicella, T, Antonino, S, Francesco, C, Valeria, P, Daniela, L, Domenico, C, Giorgio, B, March, A, Nitti, M, Felici, A, Pavan, S, Piazzani, F, Lunelli, A, Dimori, S, Margotta, A, Soglia, T, Postacchini, D, Brunelli, R, Santini, S, Francavilla, M, Macchiati, I, Sorvillo, F, Giuli, C, Mecocci, P, Longo, A, Perticone, F, Addesi, D, Rosa, P, Bencardino, G, Falbo, T, Grillo, N, Marco, F, Mirella, F, Fanto, F, Isaia, G, Pezzilli, S, Bergamo, D, Furno, E, Rrodhe, S, Lucarini, S, Dijk, B, Dall'Acqua, F, Cappelletto, F, Calvani, D, Becheri, D, Giuseppe, M, Costanza, M, Vito, A, Francesca, B, Magherini, L, Novella, M, Franca, B, Lucia Gambardella, P, Valente, C, Ilaria, B, Alice, F, Porrino, P, Ceci, G, Giuliana, B, Michela, T, Eleonora, C, Ettore, E, Camellini, C, Servello, A, Grassi, A, Rozzini, R, Tironi, S, Grassi, M, Troisi, E, Carlo, C, Simona Gabriella, D, Flaminia, F, Federica, R, Beatrice, P, Sofia, T, Gabutto, A, Quazzo, L, Rosatello, A, Suraci, D, Tagliabue, B, Perrone, C, Ferrara, L, Castagna, A, Tremolada, M, Giuseppe, C, Stefano, B, Davide, O, Piano, S, Serviddio, G, Lo Buglio, A, Gurrera, T, Merlo, V, Rovai, C, Cotroneo, A, Carlucci, R, Abbaldo, A, Monzani, F, Qasem, A, Bini, G, Tafuto, S, Galli, G, Bruni, A, Mancuso, G, Calipari, D, Giuseppe Massimiliano, D, Bernardini, B, Corsini, C, Michele, C, Sara, D, Cagnin, A, Fragiacomo, F, Pompanin, S, Piero, A, Marco, C, Zurlo, A, Guerra, G, Pala, M, Menozzi, L, Gatti, C, Magon, S, Roberto, M, Alfredo, D, Fabio, F, Ruana, T, Elisa, M, Christian, M, Marco, P, Massimo, G, Di Francesco, V, Faccioli, S, Pellizzari, L, Giorgia, F, Barbagallo, G, Lunardelli, M, Martini, E, Ferrari, E, Macchiarulo, M, Corneli, M, Bacci, M, Battaglia, G, Anastasio, L, Lo Storto, M, Seresin, C, Simonato, M, Loreggian, M, Cestonaro, F, Durando, M, Latella, R, Mazzoleni, M, Russo, G, Ponte, M, Valchera, A, Salustri, G, Petritola, D, Costa, A, Sinforiani, E, Cotta, M, Pizio, R, Cester, A, Formilan, M, Pietro, B, Carbone, P, Cazzaniga, I, Appollonio, I, Cereda, D, Stabile, A, Xhani, R, Acampora, R, Tremolizzo, L, Federico, P, Antonio, C, Valerio, P, Cesare, B, Zhirajr, M, Giovanni, V, Maria, A, Mariaelena, S, Bottacchi, E, Bucciantini, E, Di Giovanni, M, Franchi, F, Lucchetti, L, Mariani, C, Grande, G, Rapazzini, P, Marco, M, Romanelli, G, Franco, N, Alessio, M, Nicola, L, Laura, P, Nazario, P, Chiara, G, Soccorso, P, Andrea, S, Luca, B, Francesca, S, Roberto, A, Anna, C, Fugazza, L, Guerrini, C, De Paduanis, G, Iallonardo, L, Palumbo, P, Zuliani, G, Ortolani, B, Capatti, E, Soavi, C, Bianchi, L, Francesconi, D, Miselli, A, Gloria, B, Tommaso, R, Chiara, P, Agata, M, Marco, D, Luca, M, Gianluca, G, Suardi, T, Zaccarini, C, Manuela, R, Mirra, G, Muti, E, Bottura, R, Gianpaolo, M, Secreto, P, Bisio, E, Cecchettani, M, Naldi, T, Pallavicino, A, Pugliese, M, Iozzo, R, Grassi, G, Bombelli, M, Dell'Oro, R, Quarti Trevano, F, Giussani, G, Paternò, G, Contro, E, Mannironi, A, Giorli, E, Oberti, S, Fierro, B, Piccoli, T, Giacalone, F, Mandas, A, Serchisu, L, Costaggiu, D, Pinna, E, Orru, F, Mannai, M, Cordioli, Z, Pelizzari, L, Turcato, E, Arduini, P, Cacace, C, Chiloiro, R, Cimino, R, Ruberto, C, Giovanni, R, Pietro, G, Laura, G, Alberto, C, Carmen, R, Santo, P, Andriolli, A, Burattin, G, Rossi, L, Andreolli Antonino, C, Tezza, F, Maddalena, P, Laura, S, Crippa, P, Aloisio, P, Di Monda, T, Malighetti, A, Galbassini, G, Salutis, D, Ivaldi, C, Russo, A, Bennati, E, Pino, E, Zavarise, G, Pesci, A, Suigo, G, Faverio, P, Andrea, G, Sabrina, P, Zanasi, M, Moniello, G, Rostagno, C, Cartei, A, Polidori, G, Ungar, A, Melis, M, Martellini, E, Enrico, M, Monica, T, Antonella, G, Giovanna, L, Migliorini, M, Caramelli, F, Battiston, B, Berardino, M, Cavallo, S, Alessandro, M, Anna, S, Lombardi, B, D'Ippolito, P, Furini, A, Villani, D, Clara, R, Guarneri, M, Paolucci, S, Bassi, A, Coiro, P, De Angelis, D, Morone, G, Venturiero, V, Palleschi, L, Raganato, P, Di Niro, G, Rosa, C, Loredana, B, Imoscopi, A, Tibaldi, V, Bottignole G, G, Calvi, E, Clementi, C, Zanocchi, M, Agosta, L, Nortarelli, A, Provenzano, G, Mari, D, Romano, F, Rosini, F, Mansi, M, Rossi, S, Geriatria, A, Inzaghi, L, Bonini, G, Rossi, P, Potena, A, Lichii, M, Candiani, T, Grimaldi, W, Bertani, E, Alessandra, P, Calogero, P, Pinto, D, Bernardi, R, Nicolino, F, Galetti, C, Gianstefani, A, Giulia, C, Lorenzo, M, Odetti, P, Monacelli, F, Prefumo, M, Fiammetta, M, Canepa, M, Minaglia, C, Paolisso, G, Rizzo, M, Prestano, R, Dalise, A, Barra, D, Bosco, L, Asprinio, V, Dallape, L, 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Monia, M, Pilotto, A, Prete, C, Senesi, B, Meta, A, Pendenza, E, Pasqualetti, G, Polini, A, Tognini, S, Ballino, E, Dell'Aquila, G, Gasparrini, P, Marotti, E, Migale, M, Scrimieri, A, Falsetti, L, Salvi, A, Toigo, G, Ceschia, G, Rosso, A, Tongiorgi, C, Scarpa, C, De Dominicis, L, Pucci, E, Renzi, S, Cartechini, E, Tomassini, P, Del Gobbo, M, Ugenti, F, Romeo, P, Nardelli, A, Lauretani, F, Visioli, S, Montanari, I, Ermini, F, Giordano, A, Pigato, G, Simeone, E, Barbujani, M, Giampieri, M, Amoruso, R, Piccinini, M, Ferrari, C, Gambetti, C, Sfrappini, M, Semeraro, L, Striuli, R, Pelliccioni, G, Marinelli, D, Fabi, K, Rossi, T, Pesallaccia, M, Sabbatini, D, Gobbi, B, Cerqua, R, Tagliani, G, Schlauser, E, Caser, L, Caramello, E, Sandigliano, F, Rosso, G, Ferrari, A, Bendini, C, Luisa, D, Casella, M, Prampolini, R, Scevola, M, Vitale, E, Roberto, B, Carlo, F, Sergio, F, Alberto, S, Daniela, Z, Giulia, B, Serena, G, Michele, B, Maugeri, D, Sorace, R, Anzaldi, M, De Gesu, R, Morrone, G, Davolio, F, Fabbo, A, Palmieri, M, Zoli, M, Forti, P, Pirazzoli, L, Fabbri, E, Terenzi, L, Bergolari, F, Wenter, C, Ruffini, I, Insam, M, Abraham, E, Kirchlechner, C, Cucinotta, D, Antonino, L, Basile, G, Grazia, A, Parise, P, Boccali, A, Amici, S, Gambacorta, M, Lasagni, A, Lovati, R, Giovinazzo, F, Kimak, E, Zappa, P, Medici, F, Lo Castro, M, Mauro, F, De Luca, A, Sancesario, G, Martorana, A, Scaricamazza, B, Toniolo, S, Di Lorenzo, F, Liguori, C, Lasco, A, Vita, N, Giomi, M, Forte, F, Padovani, A, Rozzini, L, Ceraso, A, Salvatore, C, Cottino, M, Vitali, S, Marelli, E, Tripi, G, Miceli, S, Urso, G, Grioni, G, Vezzadini, G, Misaggi, G, Forlani, C, Avanzi, S, Serena, S, Claudia, C, Marilena, V, Alberto, L, Diego, G, Alessandro, G, Iemolo, F, Sanzaro, E, D'Asta, G, Proietto, M, Carnemolla, A, Razza, G, Spadaro, D, Bertolotti, M, Mussi, C, Neviani, F, Roberto, C, Valentina, G, Linda, M, Francesca, V, Tarozzi, A, Balestri, F, Mannarino, G, Bigolari, M, Natale, A, Grassi, S, Bottaro, C, Stefanelli, S, Bovone, U, Tortorolo, U, Quadri, R, Leone, G, Ponzetto, M, Frasson, P, Annoni, G, Confalonieri, R, Corsi, M, Moretti, D, Teruzzi, F, Umidi, S, Mazzola, P, Perego, S, Persico, I, Olivieri, G, Bonfanti, A, Hajnalka, S, Galeazzi, M, Massariello, F, Anzuini, A, Caffarra, P, Barocco, F, Spallazzi, M, Paolo, C, Simonetta, M, Chioatto, P, Bortolamei, S, Soattin, L, Ruotolo, G, Beneamino, B, Giuseppe, B, Bertazzoli, M, Rota, E, Adobati, A, Scarpa, A, Granziera, S, Zuccher, P, Fabbro, A, Zara, D, Lo Nigro, A, Franchetti, L, Toniolo, M, Marcuzzo, C, Rollone, M, Guerriero, F, Sgarlata, C, Masse, A, Zatti, G, Piatti, M, Graci, J, Benati, G, Boschi, F, Biondi, M, Fiumi, N, Erika, T, Locatelli, S, Mauri, S, Beretta, M, Margheritis, L, Desideri, G, Liberatore, E, Carucci, A, Bonino, P, Caput, M, Antonietti, M, Polistena, G, De la Pierre, F, Mari, M, Massignani, P, Tombesi, F, Selvaggio, F, Verbo, B, Bodoni, P, Marchionni, N, Sabatini, T, Mussio, E, Magni, E, Bianchetti, A, Crucitti, A, Titoldini, G, Cossu, B, Fascendini, S, Licini, C, Tomasoni, A, Calderazzo, M, Daniela, T, Valentina, L, Melotti, R, Lilli, A, Buda, S, Adversi, M, Noro, G, Turco, R, Ubezio, M, Mantovani, A, Viola, M, Serrati, C, Pretta, S, Infante, M, Gentile, S, D'Ambrosio, V, Mazzanti, P, Brambilla, C, Sportelli, S, Platto, C, Faraci, B, Quattrocchi, D, Pernigotti, L, Pisu, C, Sicuro, F, Zagnoni, P, Ghiglia, S, Mosca, M, Corazzin, I, Deola, M, Biagini, C, Bencini, F, Cantini, C, Tonon, E, Pierinelli, S, Onofrj, M, Thomas, A, Filomena, B, Bonanni, L, Gabriella, C, Comi, G, Magnani, G, Santangelo, R, Mazzeo, S, Francesca, C, Giordano, C, Roberto, S, Barbieri, C, Giroldi, L, Bandini, F, Masina, M, Malservisi, S, Cicognani, A, Ricca, L, Piccininni, M, Tassinari, T, Brogi, D, Sugo, A, Alessandra, F, Sonia, M, Valerio, V, Andrea, U, Enrico, C, Vera, R, Assunta, S, Gianmaria, Z, Mauro, P, Barone, A, Razzano, M, Giuseppe, I, Angela, B, Francesco, S, Valeria, D, Federico, G, Lucia, P, Antonella, V, Elisabetta, D, Cristina, R, Nadia, C, Maria, S, Luciano, A, Chiara, C, Bini, P, Pignata, M, Enrico, B, Maria, V, Giovanni, C, Giorgio, C, Piera, R, Alberto, Z, Ceccon, A, Magrin, L, Marin, S, Barbara, S, Matteo, M, Caterina, P, Carla, R, Federica, G, Clara, T, Melania, C, Giampaolo, B, Stefano, G, Valeria, G, Lucia, M, Giovambattista, D, Ester, L, Cecilia, C, Maurizio, T, Nadia, B, Grillo, A, Arenare, F, Tonino, M, David, K, Giorgio, V, Ubaldo, B, Vincenzo, S, Stefano, M, Marino, F, Busonera Flavio, M, Paolo, A, Monica, M, Francesco, B, Roberto, F, Paolo, B, Durantemangoni, E, Testoni, M, Fabio, D, Loredana, S, Valeria, S, Fabiano, M, Annabella, D, Salvatore, D, Greco, A, Grazia, D, Daniele, S, Gianluca, R, Renzo, G, Sergio, M, Morena, B, Vitali, M, Marina, P, Paolo, D, Cristina, S, Orlandini, F, La Regina, M, Desiree, A, Mario, B, Paola, P, Padulo, F, Cristina, M, Dario, R, Giancarla, M, Guido, R, Elena, M, Marileda, N, Igor, B, Nicole, B, Elena, R, Paolillo, C, Riccardi, A, Claudia, B, Barbara, R, Silvia, V, Oliver, B, Mauro, C, Eleonora, M, Giuseppe, P, Rosaria, T, Maria, C, Davide, D, Stefania, C, Massimo, P, Luca, S, Martina, D, Paola, V, Lia, S, Sandro, C, Valentina, D, Erminia, B, Paola, C, Romina, R, Minisola, S, Luciano, C, Pasquale, A, Ilaria, L, Guglielmo, S, Marco, E, Sara, R, Paola, A, Claudio, A, Francesco, R, Alessandro, C, Simona, M, Lara, F, Paola, R, Simonetta, C, Antonella, C, Generoso, U, Fernando, G, Giuliano, C, Emanuela, S, Mariolina, S, Alessandro, D, Giulia, L, Famularo, S, Sandini, M, Pinotti, E, Gianotti, L, Antonella, B, Giulia, P, Sante, G, Rossi, A, Rubele, S, Sant, S, Marco, V, Danila, C, Fabio, R, Bandirali, M, Nicoletta, C, Laura, B, Paolo, T, Luciano, T, Leonello, A, Margherita, S, Pierluigi, D, Laura, R, Fabiana, T, Giovanna, C, Antonino, A, Felice, C, Danilo, F, Giovanna, D, Francesco, L, Salini, S, Giorgetta, C, Giovanni, G, Gerardo, B, Silvio, R, Letizia, S, Davide, B, Rosaria, R, Maria, D, Raffaele, P, Palmieri, V, Palasciano, G, Belfiore, A, Portincasa, P, Carlo, S, Alessia, D, Valiani, V, Carolina, B, Tiziana, C, Paola, T, Ugo, P, Giacomo, P, Castellano, M, Anna, G, Elisa, C, Federica, C, Antonietta, C, Luigi, M, Fabio, L, Salvatore, B, Gelosa, G, Viviana, A, Piras, V, Andrea, C, Alessandra, B, Coen, D, Magliola, R, Milanesio, D, Muzzulini, C, Paolo, F, Marinella, T, Sofia, C, Marta, B, Siano, P, Capo, G, Napoletano, R, Cecilia, P, Mancini, C, Del Buono, C, De Bartolomeo, G, Addolorata, M, Carmen, C, Moschettini, G, Franco, M, Daniela, R, D'Amico, G, Mirella, P, Endrizzi, C, Trotta, L, Ciarambino, T, Orazio, Z, Emanuela, T, Marta, S, Thomas, F, Giacomo, T, Ignazio, D, Andrea, B, Giuseppe, O, Emanuela, F, Serena, A, Elena, D, Serena, B, Erika, N, Elena, S, Manuela, P, Francesca, A, Angelo, T, Morandi A., Zambon A., Di Santo S. G., Mazzone A., Cherubini A., Mossello E., Bo M., Marengoni A., Bellelli G., Rispoli V., Malara A., Spadea F., Di Cello S., Ceravolo F., Fabiano F., Chiaradia G., Gabriele A., Lenino P., Andrea T., Settembrini V., Capomolla D., Citrino A., Scriva A., Bruno I., Secchi R., De Martino E., Muccinelli R., Lupi G., Paonessa P., Fabbri A., Passuti M. T., Castellari S., Po A., Gaggioli G., Varesi M., Moneti P., Capurso S., Latini V., Ghidotti S., Riccardelli F., Macchi M., Rigo R., Claudio P., Angelo B., Flavio C., Benedetta B., Boffelli S., Cassinadri A., Franzoni S., Spazzini E., Andretto D., Tonini G., Andreani L., Coralli M., Balotta A., Cancelliere R., Ballardini G., Simoncelli M., Mancini A., Strazzacapa M., Fabio S., De Filippi F., Giudice C., Dentizzi C., Azzini M., Cazzadori M., Mastroeni V., Bertassello P., Claudia Benati H. S., Nesta E., Tobaldini C., Guerini F., Elena T., Mombelloni P., Fontanini F., Gabriella L., Pizzorni C., Oliverio M., Del Grosso L. L., Giavedoni C., Bidoli G., Mazzei B., Corsonello A., Fusco S., Vena S., De Vuono T., Maiuri G., Luca F. F., Andrea A., Giovanni S., Rossella N., Castegnaro E., De Rosa S., Sechi R. B., Benvenuti E., Del Lungo I., Giardini S., Giulietti C., Mauro D. B., Eleonora B., Martina P., Irene F., Riccardo B., Federica S., Ilaria D. L., Bertoletti E., D'Amico F., Caronzolo F., Grippa A., Lombardo G., Pipicella T., Antonino S., Francesco C., Valeria P. G., Daniela L., Domenico C., Giorgio B., March A., Nitti M. T., Felici A., Pavan S., Piazzani F., Lunelli A., Dimori S., Margotta A., Soglia T., Postacchini D., Brunelli R., Santini S., Francavilla M., Macchiati I., Sorvillo F., Giuli C., Mecocci P., Longo A., Perticone F., Addesi D., Rosa P. C., Bencardino G., Falbo T., Grillo N., Marco F., Mirella F., Fanto F., Isaia G., Pezzilli S., Bergamo D., Furno E., Rrodhe S., Lucarini S., Dijk B., Dall'Acqua F., Cappelletto F., Calvani D., Becheri D., Giuseppe M., Costanza M., Vito A., Francesca B., Magherini L., Novella M., Franca B., Lucia Gambardella P. M., Valente C., Ilaria B., Alice F., Porrino P., Ceci G., Giuliana B., Michela T., Eleonora C., Ettore E., Camellini C., Servello A., Grassi A., Rozzini R., Tironi S., Grassi M. G., Troisi E., Carlo C., Simona Gabriella D. S., Flaminia F., Federica R., Beatrice P., Sofia T., Gabutto A., Quazzo L., Rosatello A., Suraci D., Tagliabue B., Perrone C., Ferrara L., Castagna A., Tremolada M. L., Giuseppe C., Stefano B., Davide O., Piano S., Serviddio G., Lo Buglio A., Gurrera T., Merlo V., Rovai C., Cotroneo A. M., Carlucci R., Abbaldo A., Monzani F., Qasem A. A., Bini G., Tafuto S., Galli G., Bruni A. C., Mancuso G., Calipari D., Giuseppe Massimiliano D. L., Bernardini B., Corsini C., Michele C., Sara D. F., Cagnin A., Fragiacomo F., Pompanin S., Piero A., Marco C., Zurlo A., Guerra G., Pala M., Menozzi L., Gatti C. D., Magon S., Roberto M., Alfredo D. G., Fabio F., Ruana T., Elisa M., Christian M., Marco P., Massimo G., Di Francesco V., Faccioli S., Pellizzari L., Giorgia F., Barbagallo G., Lunardelli M. L., Martini E., Ferrari E., Macchiarulo M., Corneli M., Bacci M., Battaglia G., Anastasio L., Lo Storto M. S., Seresin C., Simonato M., Loreggian M., Cestonaro F., Durando M., Latella R., Mazzoleni M., Russo G., Ponte M., Valchera A., Salustri G., Petritola D., Costa A., Sinforiani E., Cotta M. R., Pizio R. N., Cester A., Formilan M., Pietro B., Carbone P., Cazzaniga I., Appollonio I., Cereda D., Stabile A., Xhani R., Acampora R., Tremolizzo L., Federico P., Antonio C., Valerio P., Cesare B., Zhirajr M., Giovanni V., Maria A., Mariaelena S., Bottacchi E., Bucciantini E., Di Giovanni M., Franchi F., Lucchetti L., Mariani C., Grande G., Rapazzini P., Marco M., Romanelli G., Franco N., Alessio M., Nicola L., Laura P., Nazario P., Chiara G., Soccorso P., Andrea S., Luca B., Francesca S., Roberto A., Anna C., Fugazza L., Guerrini C., De Paduanis G., Iallonardo L., Palumbo P., Zuliani G., Ortolani B., Capatti E., Soavi C., Bianchi L., Francesconi D., Miselli A., Gloria B., Tommaso R., Chiara P., Agata M. M., Marco D. A., Luca M., Gianluca G., Suardi T., Zaccarini C., Manuela R., Mirra G., Muti E., Bottura R., Gianpaolo M., Secreto P., Bisio E., Cecchettani M., Naldi T., Pallavicino A., Pugliese M., Iozzo R. C., Grassi G., Bombelli M., Dell'Oro R., Quarti Trevano F., Giussani G. C., Paternò G., Contro E., Mannironi A., Giorli E., Oberti S., Fierro B., Piccoli T., Giacalone F., Mandas A., Serchisu L., Costaggiu D., Pinna E., Orru F., Mannai M., Cordioli Z., Pelizzari L., Turcato E., Arduini P., Cacace C., Chiloiro R., Cimino R., Ruberto C., Giovanni R., Pietro G., Laura G., Alberto C., Carmen R., Santo P. D., Andriolli A., Burattin G., Rossi L., Andreolli Antonino C. G., Tezza F., Maddalena P., Laura S., Crippa P., Aloisio P., Di Monda T., Malighetti A., Galbassini G., Salutis D., Ivaldi C., Russo A. M., Bennati E., Pino E., Zavarise G., Pesci A., Suigo G., Faverio P., Andrea G., Sabrina P., Zanasi M., Moniello G., Rostagno C., Cartei A., Polidori G., Ungar A., Melis M. R., Martellini E., Enrico M., Monica T., Antonella G., Giovanna L., Migliorini M., Caramelli F., Battiston B., Berardino M., Cavallo S., Alessandro M., Anna S., Lombardi B., D'Ippolito P., Furini A., Villani D., Clara R., Guarneri M., Paolucci S., Bassi A., Coiro P., De Angelis D., Morone G., Venturiero V., Palleschi L., Raganato P., Di Niro G., Rosa C. A., Loredana B., Imoscopi A., Tibaldi V., Bottignole G G., Calvi E., Clementi C., Zanocchi M., Agosta L., Nortarelli A., Provenzano G., Mari D., Romano F. Y., Rosini F., Mansi M., Rossi S., Geriatria A. R., Inzaghi L., Bonini G., Rossi P., Potena A., Lichii M., Candiani T., Grimaldi W., Bertani E., Alessandra P., Calogero P., Pinto D., Bernardi R., Nicolino F., Galetti C., Gianstefani A., Giulia C., Lorenzo M., Odetti P., Monacelli F., Prefumo M., Fiammetta M., Canepa M., Minaglia C., Paolisso G., Rizzo M. R., Prestano R., Dalise A. M., Barra D., Bosco L. D., Asprinio V., Dallape L., Perina E., Incalzi R. A., Bartoli I. R., Pluderi A., Maina A., Pecoraro E., Sciarra M., Prudente A., Paola M., Francesca M., Manuel V., Luisella C., Maria P. L., Tina S., Benini L., Levato F., Mhiuta V., Alius F., Davidoaia D., Giardini V., Garancini M., Bellamoli C., Terranova L., Bozzini C., Tosoni P., Provoli E., Cascone L., Dioli A., Ferrarin G., Bucci A., Bua G., Fenu S., Bianchi G., Casella S., Romano V., Maurizio P., Mascherona I., Belotti G., Cavaliere S., Cuni E., Merciuc N., Oberti R., Veneziani S., Capoferri E., De Bernardi E., Colombo K., Bravi M., Nicoletta N., D'Arcangelo P., Montenegro N., Montanari R., Lamanna P., Gasperini B., Isabella M., Stefania D., Gaia A., Filippo C., Palama C., Di Emidio C., Scarpini E., Arighi A., Fumagalli G., Basilico P., De Amicis Margherita M., Marta M., Diletta M., Granata A., Ranalli C., Cammilli A., Cavallini M. C., Tricca M., Natella D., Gabbani L., Tesi F., Martella L., Imbrici R., Guerrini G., Scotuzzi A. M., Sozzi F., Valenti L., Chiarello A., Monia M., Pilotto A., Prete C., Senesi B., Meta A. C., Pendenza E., Pasqualetti G., Polini A., Tognini S., Ballino E., Dell'Aquila G., Gasparrini P. M., Marotti E., Migale M., Scrimieri A., Falsetti L., Salvi A., Toigo G., Ceschia G., Rosso A., Tongiorgi C., Scarpa C., De Dominicis L., Pucci E., Renzi S., Cartechini E., Tomassini P. F., Del Gobbo M., Ugenti F., Romeo P., Nardelli A., Lauretani F., Visioli S., Montanari I., Ermini F., Giordano A., Pigato G., Simeone E., Barbujani M., Giampieri M., Amoruso R., Piccinini M., Ferrari C., Gambetti C., Sfrappini M., Semeraro L., Striuli R., Pelliccioni G., Marinelli D., Fabi K., Rossi T., Pesallaccia M., Sabbatini D., Gobbi B., Cerqua R., Tagliani G., Schlauser E., Caser L., Caramello E., Sandigliano F., Rosso G., Ferrari A., Bendini C., Luisa D. M., Casella M., Prampolini R., Scevola M., Vitale E., Roberto B., Carlo F., Sergio F., Alberto S., Daniela Z., Giulia B., Serena G., Michele B., Maugeri D., Sorace R., Anzaldi M., De Gesu R., Morrone G., Davolio F., Fabbo A., Palmieri M., Zoli M., Forti P., Pirazzoli L., Fabbri E., Terenzi L., Bergolari F., Wenter C., Ruffini I., Insam M., Abraham E., Kirchlechner C., Cucinotta D., Antonino L., Basile G., Grazia A. M., Parise P., Boccali A., Amici S., Gambacorta M., Lasagni A., Lovati R., Giovinazzo F., Kimak E., Zappa P., Medici F., Lo Castro M., Mauro F., De Luca A., Sancesario G., Martorana A., Scaricamazza B., Toniolo S., Di Lorenzo F., Liguori C., Lasco A., Vita N., Giomi M., Forte F., Padovani A., Rozzini L., Ceraso A., Salvatore C., Cottino M., Vitali S., Marelli E., Tripi G., Miceli S., Urso G., Grioni G., Vezzadini G., Misaggi G., Forlani C., Avanzi S., Serena S., Claudia C., Marilena V., Alberto L., Diego G., Alessandro G., Iemolo F., Sanzaro E., D'Asta G., Proietto M., Carnemolla A., Razza G., Spadaro D., Bertolotti M., Mussi C., Neviani F., Roberto C., Valentina G., Linda M., Francesca V., Tarozzi A., Balestri F., Mannarino G., Bigolari M., Natale A., Grassi S., Bottaro C., Stefanelli S., Bovone U., Tortorolo U., Quadri R., Leone G., Ponzetto M., Frasson P., Annoni G., Bruni A., Confalonieri R., Corsi M., Moretti D., Teruzzi F., Umidi S., Mazzola P., Perego S., Persico I., Olivieri G., Bonfanti A., Hajnalka S., Galeazzi M., Massariello F., Anzuini A., Caffarra P., Barocco F., Spallazzi M., Paolo C. G., Simonetta M., Chioatto P., Bortolamei S., Soattin L., Ruotolo G., Beneamino B., Giuseppe B., Bertazzoli M., Rota E., Adobati A., Scarpa A., Granziera S., Zuccher P., Fabbro A. D., Zara D., Lo Nigro A., Franchetti L., Toniolo M., Marcuzzo C., Rollone M., Guerriero F., Sgarlata C., Masse A., Zatti G., Piatti M., Graci J., Benati G., Boschi F., Biondi M., Fiumi N., Erika T., Locatelli S. M., Mauri S., Beretta M., Margheritis L., Desideri G., Liberatore E., Carucci A. C., Bonino P., Caput M., Antonietti M. P., Polistena G., De la Pierre F., Mari M., Massignani P., Tombesi F., Selvaggio F., Verbo B., Bodoni P., Marchionni N., Sabatini T., Mussio E., Magni E., Bianchetti A., Crucitti A., Titoldini G., Cossu B., Fascendini S., Licini C., Tomasoni A., Calderazzo M., Daniela T., Valentina L., Melotti R. M., Lilli A., Buda S., Adversi M., Noro G., Turco R., Ubezio M. C., Mantovani A. R., Viola M. C., Serrati C., Pretta S., Infante M., Gentile S., D'Ambrosio V., Mazzanti P., Brambilla C., Sportelli S., Platto C., Faraci B., Quattrocchi D., Pernigotti L. M., Pisu C., Sicuro F., Zagnoni P., Ghiglia S., Mosca M., Corazzin I., Deola M., Biagini C. A., Bencini F., Cantini C., Tonon E., Pierinelli S., Onofrj M., Thomas A., Filomena B., Bonanni L., Gabriella C., Comi G., Magnani G., Santangelo R., Mazzeo S., Francesca C., Giordano C., Roberto S. A., Barbieri C., Giroldi L., Bandini F., Masina M., Malservisi S., Cicognani A., Ricca L., Piccininni M., Tassinari T., Brogi D., Sugo A., Alessandra F., Sonia M., Valerio V., Andrea U. C., Enrico C., Vera R. F., Assunta S., Gianmaria Z., Mauro P., Barone A., Razzano M., Giuseppe I., Angela B., Francesco S., Valeria D. A., Federico G., Lucia P., Antonella V., Elisabetta D. C., Cristina R., Nadia C., Maria S., Luciano A., Chiara C., Bini P., Pignata M., Enrico B., Maria V., Giovanni C., Giorgio C., Piera R., Alberto Z., Ceccon A., Magrin L., Marin S., Barbara S., Matteo M., Caterina P. M., Carla R., Federica G., Clara T., Melania C., Giampaolo B., Stefano G., Valeria G., Lucia M., Giovambattista D., Ester L., Cecilia C. A., Maurizio T., Nadia B., Grillo A., Arenare F., Tonino M., David K., Giorgio V. P., Ubaldo B., Vincenzo S., Stefano M., Marino F., Busonera Flavio M. T., Paolo A., Monica M., Francesco B., Roberto F., Paolo B., DuranteMangoni E., Testoni M., Fabio D. S., Loredana S., Valeria S., Fabiano M., Annabella D. G., Salvatore D. C., Greco A., Grazia D. O., Daniele S., Gianluca R., Renzo G., Sergio M., Morena B., Vitali M., Marina P., Paolo D. C., Cristina S., Orlandini F., La Regina M., Desiree A., Mario B., Paola P., Padulo F., Cristina M., Dario R., Giancarla M., Guido R., Elena M., Marileda N., Igor B., Nicole B., Elena R., Paolillo C., Riccardi A., Claudia B., Barbara R., Silvia V., Oliver B., Mauro C., Eleonora M., Giuseppe P., Rosaria T., Maria C., Davide D. A., Stefania C., Massimo P., Luca S., Martina D. F., Paola V., Lia S., Sandro C., Valentina D. S., Erminia B., Paola C., Romina R., Minisola S., Luciano C., Pasquale A., Ilaria L., Guglielmo S., Marco E., Sara R., Paola A., Claudio A., Francesco R., Alessandro C., Simona M., Lara F., Paola R., Simonetta C., Antonella C., Generoso U., Fernando G., Giuliano C., Emanuela S., Mariolina S., Alessandro D., Giulia L., Famularo S., Sandini M., Pinotti E., Gianotti L., Antonella B., Giulia P., Sante G., Rossi A., Rubele S., Sant S., Marco V., Danila C., Fabio R., Bandirali M. P., Nicoletta C., Laura B., Paolo T., Luciano T., Leonello A., Margherita S., Stefania D. N., Pierluigi D. S., Laura R., Fabiana T., Giovanna C., Antonino A., Felice C., Danilo F., Giovanna D. B., Francesco L., Salini S., Angela B. M., Giorgetta C., Giovanni G., Gerardo B., Silvio R., Letizia S., Davide B., Rosaria R. M., Maria D. A., Raffaele P., Palmieri V. O., Palasciano G., Belfiore A., Portincasa P., Carlo S., Alessia D., Valiani V., Carolina B., Tiziana C., Paola T., Ugo P., Giacomo P., Castellano M., Anna G., Elisa C., Federica C., Antonietta C. M., Luigi M., Fabio L., Salvatore B., Gelosa G., Viviana A. T., Piras V., Andrea C., Alessandra B., Coen D., Magliola R., Milanesio D., Muzzulini C. L., Paolo F., Marinella T., Sofia C. M., Marta B., Siano P., Capo G., Napoletano R., Cecilia P., Mancini C., Del Buono C., De Bartolomeo G., Addolorata M., Carmen C., Giovanni V. A., Moschettini G., Franco M., Daniela R., D'Amico G., Mirella P., Endrizzi C., Trotta L., Ciarambino T., Orazio Z., Emanuela T., Marta S., Thomas F., Giacomo T., Ignazio D. F., Andrea B., Giuseppe O., Emanuela F., Serena A., Elena D. I., Serena B., Erika N., Roberto S., Elena S., Manuela P., Francesca A., and Angelo T.
- Abstract
Objectives: Few studies have analyzed factors associated with delirium subtypes. In this study, we investigate factors associated with subtypes of delirium only in patients with dementia to provide insights on the possible prevention and treatments. Design: This is a cross-sectional study nested in the “Delirium Day” study, a nationwide Italian point-prevalence study. Setting and Participants: Older patients admitted to 205 acute and 92 rehabilitation hospital wards. Measures: Delirium was evaluated with the 4-AT and the motor subtypes with the Delirium Motor Subtype Scale. Dementia was defined by the presence of a documented diagnosis in the medical records and/or prescription of acetylcholinesterase inhibitors or memantine prior to admission. Results: Of the 1057 patients with dementia, 35% had delirium, with 25.6% hyperactive, 33.1% hypoactive, 34.5% mixed, and 6.7% nonmotor subtype. There were higher odds of having venous catheters in the hypoactive (OR 1.82, 95% CI 1.18-2.81) and mixed type of delirium (OR 2.23, CI 1.43-3.46), whereas higher odds of urinary catheters in the hypoactive (OR 2.91, CI 1.92-4.39), hyperactive (OR 1.99, CI 1.23-3.21), and mixed types of delirium (OR 2.05, CI 1.36-3.07). We found higher odds of antipsychotics both in the hyperactive (OR 2.87, CI 1.81-4.54) and mixed subtype (OR 1.84, CI 1.24-2.75), whereas higher odds of antibiotics was present only in the mixed subtype (OR 1.91, CI 1.26-2.87). Conclusions and Implications: In patients with dementia, the mixed delirium subtype is the most prevalent followed by the hypoactive, hyperactive, and nonmotor subtype. Motor subtypes of delirium may be triggered by clinical factors, including the use of venous and urinary catheters, and the use of antipsychotics. Future studies are necessary to provide further insights on the possible pathophysiology of delirium in patients with dementia and to address the optimization of the management of potential risk factors.
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- 2020
31. HSC70 expression is reduced in lymphomonocytes of sporadic ALS patients and contributes to TDP-43 accumulation
- Author
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Arosio, A, Cristofani, R, Pansarasa, O, Crippa, V, Riva, C, Sirtori, R, Menendez, V, Riva, N, Gerardi, F, Lunetta, C, Cereda, C, Poletti, A, Ferrarese, C, Tremolizzo, L, Sala, G, Arosio A., Cristofani R., Pansarasa O., Crippa V., Riva C., Sirtori R., Menendez V., Riva N., Gerardi F., Lunetta C., Cereda C., Poletti A., Ferrarese C., Tremolizzo L., Sala G., Arosio, A, Cristofani, R, Pansarasa, O, Crippa, V, Riva, C, Sirtori, R, Menendez, V, Riva, N, Gerardi, F, Lunetta, C, Cereda, C, Poletti, A, Ferrarese, C, Tremolizzo, L, Sala, G, Arosio A., Cristofani R., Pansarasa O., Crippa V., Riva C., Sirtori R., Menendez V., Riva N., Gerardi F., Lunetta C., Cereda C., Poletti A., Ferrarese C., Tremolizzo L., and Sala G.
- Abstract
Aim: The demonstration that chaperone-mediated autophagy (CMA) contributes to the degradation of TDP-43, the main constituent of cytoplasmic inclusions typically found in motor neurons of patients with sporadic amyotrophic lateral sclerosis (sALS), has pointed out a possible involvement of CMA in aggregate formation. To explore this possibility, in this study, we verified the presence of a possible systemic CMA alteration in sALS patients and its effect on TDP-43 expression. Materials and methods: Gene and protein expression of the cytosolic chaperone HSC70 and the lysosome receptor LAMP2A, the two pivotal mediators of CMA, was assessed in peripheral blood mononuclear cells (PBMCs) derived from 30 sALS patients and 30 healthy controls. The expression of TDP-43 and co-chaperones BAG1 and BAG3 was also analyzed. Results: We found reduced HSC70 expression in patient cells, with no change in LAMP2A, and increased insoluble TDP-43 protein levels, with an aberrant intracellular localization. We also observed an unbalanced expression of co-chaperones BAG1 and BAG3. HSC70 down-regulation was confirmed in immortalized lymphoblastoid cell lines derived from sporadic and TARDBP mutant ALS patients. Lastly, we demonstrated that HSC70 silencing directly increases TDP-43 protein levels in human neuroblastoma cells. Discussion: Our results do not support the existence of a systemic CMA alteration in sALS patients but indicate a direct involvement of HSC70 alterations in ALS pathogenesis.
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- 2020
32. ALS Cognitive Behavioral Screen (ALS-CBS): normative values for the Italian population and clinical usability
- Author
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Tremolizzo, L., Lizio, A., Santangelo, G., Diamanti, S., Lunetta, C., Gerardi, F., Messina, S., La Foresta, S., Riva, N., Falzone, Y., Filippi, M., Woolley, S. C., Sansone, V. A., Siciliano, M., Ferrarese, C., Appollonio, I., Aliprandi, A., Cereda, D., Conti, E., Gallone, A. M., Mantero, V., Marzorati, L., Mosca, L., Pellegrini, A., Perini, M., Rigamonti, A., Sala, G., Salmaggi, A., Spinazzola, L., Susani, E., Tarlarini, C., Trojsi, F., Zarcone, D., Tremolizzo, L., Lizio, A., Santangelo, G., Diamanti, S., Lunetta, C., Gerardi, F., Messina, S., La Foresta, S., Riva, N., Falzone, Y., Filippi, M., Woolley, S. C., Sansone, V. A., Siciliano, M., Ferrarese, C., Appollonio, I., Aliprandi, A., Cereda, D., Conti, E., Gallone, A. M., Mantero, V., Marzorati, L., Mosca, L., Pellegrini, A., Perini, M., Rigamonti, A., Sala, G., Salmaggi, A., Spinazzola, L., Susani, E., Tarlarini, C., Trojsi, F., Zarcone, D., Tremolizzo, L, Lizio, A, Santangelo, G, Diamanti, S, Lunetta, C, Gerardi, F, Messina, S, La Foresta, S, Riva, N, Falzone, Y, Filippi, M, Woolley, S, Sansone, V, Siciliano, M, Ferrarese, C, Appollonio, I, and Sala, G
- Subjects
Adult ,Male ,medicine.medical_specialty ,Neurology ,Cognitive ,Italian ,Normative ,Screening test ,Dermatology ,Disease ,Behavioral Symptoms ,Neuropsychological Tests ,M-PSI/02 - PSICOBIOLOGIA E PSICOLOGIA FISIOLOGICA ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Reference Values ,medicine ,80 and over ,Humans ,Cognitive Dysfunction ,030212 general & internal medicine ,Amyotrophic lateral sclerosis ,Aged ,MED/26 - NEUROLOGIA ,Aged, 80 and over ,business.industry ,Amyotrophic Lateral Sclerosis ,Cognition ,Usability ,General Medicine ,Caregiver burden ,Middle Aged ,medicine.disease ,Test (assessment) ,Psychiatry and Mental health ,M-PSI/03 - PSICOMETRIA ,Italy ,ALS ,ALS-CBS ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,Clinical psychology - Abstract
Amyotrophic lateral sclerosis (ALS) patients often express cognitive and behavioral dysfunctions within the so-called “frontotemporal spectrum disorders.” Guidelines recommend screening of such dysfunctions, albeit only ALS dedicated tools are eventually suitable, due to the profound motor limitations induced by the disease. ALS Cognitive Behavioral Screen (ALS-CBS) is such a screening tool but normative data are not available, limiting its widespread implementation. Our aim consisted in producing normative data for the Italian version of the ALS-CBS. The scale was administered to n = 458 healthy controls with different age and education. Following translation and back translation of the original version of the test, normative data and correction scores for the ALS-CBS cognitive subtest (ALS-CBSci) were generated. Furthermore, n = 100 ALS consecutive outpatients with a wide range of cognitive and motor severity underwent to the ALS-CBS, besides FAB and Weigl sorting test (WST), in order to check its usability. Completion rate was 100% for ALS-CBS and WST, and 68% for the FAB. Corrected ALS-CBS scores showed 12% detection rate of significant cognitive dysfunction with a moderate kappa with FAB and WST. For the ALS-CBS behavioral subtest (ALS-CBSbi), a caregiver was available for n = 81 ALS patients and asked to complete the subset. The detection rate for behavioral dysfunction was 55.5%, and a mild correlation between with the Caregiver Burden Inventory was present (r = − 0.26, p = 0.04). In conclusion, we offer here normative data for the ALS-CBS, a handy tool for screening frontotemporal spectrum dysfunctions in ALS patients, and confirm its usability and validity in an outpatient setting.
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- 2020
33. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- Author
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van Rheenen, W., van der Spek, R.A.A., Bakker, M.K., van Vugt, J.J.F.A., Hop, P.J., Zwamborn, R.A.J., de Klein, N., Westra, H-J, Bakker, O.B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A.M., Gawor, K., Westeneng, H-J, Tazelaar, G.H.P., van Eijk, K.R., Kooyman, M., Byrne, R.P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B.N., Gromicho, M., Chandran, S., Pal, S., Morrison, K.E., Shaw, P.J., Hardy, J., Orrell, R.W., Sendtner, M., Meyer, T., Başak, N., van der Kooi, A.J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D’alfonso, S., Sorarù, G., Siciliano, G., Filosto, M., Padovani, A., Chiò, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R.H., Bell, S., Vourc’h, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J.S., Assialioui, A., Rojas-García, R., Dion, P.A., Ross, J.P., Ludolph, A.C., Weishaupt, J.H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C.A.M., Saker-Delye, S., Wood, N.W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Braun, A., Kraft, J., Whiteman, D.C., Olsen, C.M., Uitterlinden, A.G., Hofman, A., Rietschel, M., Cichon, S., Nöthen, M.M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M.S., Rinaldi, F., Chiveri, L., Guaita, M.C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M.L., Bono, G., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M.C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., D’Alfonso, S., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D.M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G.P., Del Bo, R., Gagliardi, S., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I.L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B.J., Singleton, A.B., Mitne Neto, M., Cauchi, R.J., Ophoff, R.A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V.M., Grosskreutz, J., Roediger, A., Gaur, N., Jörk, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O.W., Steinbach, R., Hübner, C.A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavač, M., Glavač, D., Stević, Z., Drory, V., Povedano, M., Blair, I.P., Kiernan, M.C., Benyamin, B., Henderson, R.D., Furlong, S., Mathers, S., McCombe, P.A., Needham, M., Ngo, S.T., Nicholson, G.A., Pamphlett, R., Rowe, D.B., Steyn, F.J., Williams, K.L., Mather, K.A., Sachdev, P.S., Henders, A.K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G.A., Silani, V., Curtis, C.J., Breen, G., Glass, J.D., Brown, R.H., Landers, J.E., Shaw, C.E., Andersen, P.M., Groen, E.J.N., van Es, M.A., Pasterkamp, R.J., Fan, D., Garton, F.C., McRae, A.F., Davey Smith, G., Gaunt, T.R., Eberle, M.A., Mill, J., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Wray, N.R., Tsai, E., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L.H., Veldink, J.H., van Rheenen, W., van der Spek, R.A.A., Bakker, M.K., van Vugt, J.J.F.A., Hop, P.J., Zwamborn, R.A.J., de Klein, N., Westra, H-J, Bakker, O.B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A.M., Gawor, K., Westeneng, H-J, Tazelaar, G.H.P., van Eijk, K.R., Kooyman, M., Byrne, R.P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B.N., Gromicho, M., Chandran, S., Pal, S., Morrison, K.E., Shaw, P.J., Hardy, J., Orrell, R.W., Sendtner, M., Meyer, T., Başak, N., van der Kooi, A.J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D’alfonso, S., Sorarù, G., Siciliano, G., Filosto, M., Padovani, A., Chiò, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R.H., Bell, S., Vourc’h, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J.S., Assialioui, A., Rojas-García, R., Dion, P.A., Ross, J.P., Ludolph, A.C., Weishaupt, J.H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C.A.M., Saker-Delye, S., Wood, N.W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Braun, A., Kraft, J., Whiteman, D.C., Olsen, C.M., Uitterlinden, A.G., Hofman, A., Rietschel, M., Cichon, S., Nöthen, M.M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M.S., Rinaldi, F., Chiveri, L., Guaita, M.C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M.L., Bono, G., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M.C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., D’Alfonso, S., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D.M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G.P., Del Bo, R., Gagliardi, S., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I.L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B.J., Singleton, A.B., Mitne Neto, M., Cauchi, R.J., Ophoff, R.A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V.M., Grosskreutz, J., Roediger, A., Gaur, N., Jörk, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O.W., Steinbach, R., Hübner, C.A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavač, M., Glavač, D., Stević, Z., Drory, V., Povedano, M., Blair, I.P., Kiernan, M.C., Benyamin, B., Henderson, R.D., Furlong, S., Mathers, S., McCombe, P.A., Needham, M., Ngo, S.T., Nicholson, G.A., Pamphlett, R., Rowe, D.B., Steyn, F.J., Williams, K.L., Mather, K.A., Sachdev, P.S., Henders, A.K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G.A., Silani, V., Curtis, C.J., Breen, G., Glass, J.D., Brown, R.H., Landers, J.E., Shaw, C.E., Andersen, P.M., Groen, E.J.N., van Es, M.A., Pasterkamp, R.J., Fan, D., Garton, F.C., McRae, A.F., Davey Smith, G., Gaunt, T.R., Eberle, M.A., Mill, J., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Wray, N.R., Tsai, E., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L.H., and Veldink, J.H.
- Abstract
Correction to: Nature Genetics https://doi.org/10.1038/s41588-021-00973-1, published online 6 December 2021. In the version of this article initially published, the affiliation for Nazli Başak appeared incorrectly. Nazli Başak is at Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey, and not Bogazici University. The error has been corrected in the HTML and PDF versions of the article.
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- 2022
34. Donepezil-Induced Complex Multimodal Hallucinations: Two Cases and a Review of the Literature
- Author
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Pozzi, F, Tremolizzo, L, Ferrarese, C, Appollonio, I, Pozzi, Federico Emanuele, Tremolizzo, Lucio, Ferrarese, Carlo, Appollonio, Ildebrando, Pozzi, F, Tremolizzo, L, Ferrarese, C, Appollonio, I, Pozzi, Federico Emanuele, Tremolizzo, Lucio, Ferrarese, Carlo, and Appollonio, Ildebrando
- Abstract
Hallucinations are common in neurodegenerative dementias, being present in a significant proportion of patients. Most of the available studies show that acetylcholinesterase inhibitors may be beneficial in preventing and treating hallucinations in patients with neurodegenerative and even psychiatric disorders, even though there are reports that they might also develop as an adverse effect of such therapy. However, a clear causal relationship for the latter association was not previously established. Here we describe 2 cases of patients treated with donepezil who developed complex multimodal hallucinations, which could be causally linked to the drug by means of a challenge-dechallenge (and rechallenge in one case) paradigm. We also provide a narrative review of the literature regarding donepezil and hallucinations and propose a hypothesis to explain the occurrence of this phenomenon.
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- 2022
35. Tics: neurological disorders determined by a deficit in sensorimotor gating processes
- Author
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Schilke, E, Tremolizzo, L, Appollonio, I, Ferrarese, C, Schilke, Edoardo Dalmato, Tremolizzo, Lucio, Appollonio, Ildebrando, Ferrarese, Carlo, Schilke, E, Tremolizzo, L, Appollonio, I, Ferrarese, C, Schilke, Edoardo Dalmato, Tremolizzo, Lucio, Appollonio, Ildebrando, and Ferrarese, Carlo
- Abstract
Tic related disorders affect 4–20% of the population, mostly idiopathic, can be grouped in a wide spectrum of severity, where the most severe end is Tourette Syndrome (TS). Tics are arrhythmic hyperkinesias to whom execution the subject is forced by a “premonitory urge” that can be classified as sensory tic, just-right experience or urge without obsession. If an intact volitional inhibition allows patients to temporarily suppress tics, a lack or deficit in automatic inhibition is involved in the genesis of the disorder. Studies have assessed the presence of intrinsic microscopic and macroscopic anomalies in striatal circuits and relative cortical areas in association with a hyperdopaminergic state in the basal forebrain. Prepulse inhibition (PPI) of the startle reflex is a measure of inhibitory functions by which a weak sensory stimulus inhibits the elicitation of a startle response determined by a sudden intense stimulus. It is considered an operation measure of sensorimotor gating, a neural process by which unnecessary stimuli are eliminated from awareness. Evidence points out that the limbic domain of the CSTC loops, dopamine and GABA receptors within the striatum play an important role in PPI modulation. It is conceivable that a sensorimotor gating deficit may be involved in the genesis of premonitory urge and symptoms. Therefore, correcting the sensorimotor gating deficit may be considered a target for tic-related disorders therapies; in such case PPI (as well as other indirect estimators of sensorimotor gating) could represent therapeutic impact predictors.
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- 2022
36. Validation of the DYALS (dysphagia in amyotrophic lateral sclerosis) questionnaire for the evaluation of dysphagia in ALS patients
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Diamanti, L, Borrelli, P, Dubbioso, R, Capasso, M, Morelli, C, Lunetta, C, Petrucci, A, Mora, G, Volanti, P, Inghilleri, M, Tremolizzo, L, Mandrioli, J, Mazzini, L, Vedovello, M, Siciliano, G, Filosto, M, Matà, S, Montomoli, C, Diamanti, Luca, Borrelli, Paola, Dubbioso, Raffaele, Capasso, Margherita, Morelli, Claudia, Lunetta, Christian, Petrucci, Antonio, Mora, Gabriele, Volanti, Paolo, Inghilleri, Maurizio, Tremolizzo, Lucio, Mandrioli, Jessica, Mazzini, Letizia, Vedovello, Marcella, Siciliano, Gabriele, Filosto, Massimiliano, Matà, Sabrina, Montomoli, Cristina, Diamanti, L, Borrelli, P, Dubbioso, R, Capasso, M, Morelli, C, Lunetta, C, Petrucci, A, Mora, G, Volanti, P, Inghilleri, M, Tremolizzo, L, Mandrioli, J, Mazzini, L, Vedovello, M, Siciliano, G, Filosto, M, Matà, S, Montomoli, C, Diamanti, Luca, Borrelli, Paola, Dubbioso, Raffaele, Capasso, Margherita, Morelli, Claudia, Lunetta, Christian, Petrucci, Antonio, Mora, Gabriele, Volanti, Paolo, Inghilleri, Maurizio, Tremolizzo, Lucio, Mandrioli, Jessica, Mazzini, Letizia, Vedovello, Marcella, Siciliano, Gabriele, Filosto, Massimiliano, Matà, Sabrina, and Montomoli, Cristina
- Abstract
BACKGROUND: Dysphagia is a common symptom during the trajectory of ALS, and it can significantly impact on the quality of life and prognosis of patients. Nowadays, no specific tool for the screening of dysphagia in ALS is validated, and the approach is heterogeneous across the Italian centres. OBJECTIVE: To validate the DYALS (dysphagia in amyotrophic lateral sclerosis) questionnaire, adapting the DYMUS (dysphagia in multiple sclerosis) questionnaire, for the assessment of dysphagia in ALS patients, in order to uniform the evaluations across the Italian ALS network. METHODS: We included 197 patients diagnosed with ALS following the El Escorial criteria, in sixteen Italian ALS centres between 1st December 2019 and 1st July 2020. For each patient, we collected clinical and demographic data and obtained ALSFRS-r score, ALSAQ-5 score, DYMUS score, and EAT-10 score. RESULTS: Across the 197 patients, the ratio M/F was 113/84, and the median age was 64 years (IQR 56-72.5). Bulbar patients were 20%, and spinal patients 80%. The median ALSFRSr total score of patients was 35 (IQR 28-39). DYALS score was statistically higher in bulbar ALS than in spinal ALS (median = 6, IQR 4.5-9 vs median = 1, IQR 0-5, z = 6.253, p < 0.0001). DYALS questionnaire showed a high internal consistency (Cronbach's alpha = 0.88). There was a statistically significant correlation between DYALS and EAT-10 (rho = 0.90, p < 0.0001). CONCLUSIONS: DYALS scale is reliable, manageable, and easily usable for the screening of dysphagia in ALS. It can be shared with all the Italian ALS centres in order to collect uniform data for therapeutic strategies and clinical trials.
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- 2022
37. A preliminary comparison between ECAS and ALS-CBS in classifying cognitive-behavioural phenotypes in a cohort of non-demented amyotrophic lateral sclerosis patients
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Greco, L, Lizio, A, Casiraghi, J, Sansone, V, Tremolizzo, L, Riva, N, Solca, F, Torre, S, Ticozzi, N, Filippi, M, Silani, V, Poletti, B, Lunetta, C, Greco, Lucia Catherine, Lizio, Andrea, Casiraghi, Jacopo, Sansone, Valeria Ada, Tremolizzo, Lucio, Riva, Nilo, Solca, Federica, Torre, Silvia, Ticozzi, Nicola, Filippi, Massimo, Silani, Vincenzo, Poletti, Barbara, Lunetta, Christian, Greco, L, Lizio, A, Casiraghi, J, Sansone, V, Tremolizzo, L, Riva, N, Solca, F, Torre, S, Ticozzi, N, Filippi, M, Silani, V, Poletti, B, Lunetta, C, Greco, Lucia Catherine, Lizio, Andrea, Casiraghi, Jacopo, Sansone, Valeria Ada, Tremolizzo, Lucio, Riva, Nilo, Solca, Federica, Torre, Silvia, Ticozzi, Nicola, Filippi, Massimo, Silani, Vincenzo, Poletti, Barbara, and Lunetta, Christian
- Abstract
To define the presence and type of frontotemporal dysfunction in amyotrophic lateral sclerosis (ALS), different screening tools have been created. Currently, the most used screening tests are the Edinburgh cognitive and behavioural ALS screen (ECAS) and the ALS cognitive behavioural screen (ALS-CBS). The objective of this study was to compare the ability of ECAS and ALS-CBS in classifying non-demented ALS patients according to Strong criteria. One-hundred and fifty-four in- and out-patients with an age > 18 and a definite or probable ALS diagnosis were recruited between September 2019 and February 2020 at NeMO Clinical Centre and at Istituto Auxologico Italiano in Milan and underwent the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) and the ALS Cognitive Behavioural Screen (ALS-CBS). Exclusion criteria involved patients with a diagnosis of FTD, with a severe cognitive deterioration and/or an important behavioural impairment, with a significant psychiatric disorder or with the co-presence of another significant illness. The distribution of patients according to Strong criteria was different for ECAS and ALS-CBS and the degree of agreement between the two tests in terms of Cohen's Kappa coefficient resulted equal to 0.2047 with a 95% confidence limits interval between 0.1122 and 0.2973. This study for the first time compares the ability of ECAS and ALS-CBS in stratifying ALS patients. Further studies will be conducted to better understand the reasons underlying the differences between these two tests in classifying the different subtypes of fronto-temporal dysfunction in ALS.
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- 2022
38. Clinical Perception and Treatment Options for Behavioral and Psychological Symptoms of Dementia (BPSD) in Italy
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D'Antonio, F, Tremolizzo, L, Zuffi, M, Pomati, S, Farina, E, Isella, V, D'Antonio, F, Tremolizzo, L, Zuffi, M, Pomati, S, Farina, E, and Isella, V
- Abstract
Background: Behavioral and psychological symptoms of dementia (BPSD) have a high prevalence, and their presence is associated with a severe impact in terms of social costs. However, dedicated clinical tools or biomarkers to detect these symptoms are lacking. Thus, BPSD management in clinical settings is challenging. The aim of this study was to investigate the perception and the treatment strategies for BPSD in Italian centers working in the dementia field. Methods: A multicenter, national survey was developed by BPSD Study Group of the Italian Neurological Society for Dementia (SINDEM). The survey consisted of a semi-structured questionnaire that was e-mailed to SINDEM members, dementia centers part of the national network of memory clinics (Centers for Cognitive Deterioration and Dementia [CDCD]), and clinicians working in dementia care settings. The questions were focused on (1) perceived global frequency and relevance of BPSD; (2) tools used to assess BPSD; (3) pharmacological treatment for psychosis, apathy, agitation, aggression, depression, anxiety, sleep, and nutrition disturbances; (4) non-pharmacological treatments; (5) drugs side effects. Results: One-hundred and thirty-six clinicians participated in this study. Seventy-nine participants worked in a CDCD and 57 in other settings. The perceived frequency of BPSD was 74%. BPSD are detected by means of a clinical assessment for 96.3% or a caregiver interview for 97%. For psychosis treatment the first choice was atypical antipsychotics (83.3%), followed by typical antipsychotic (8.9%) and antidepressants (4.8%). For agitation, atypical antipsychotics were the first-choice treatment in 64% of cases and antidepressants in 16.1%. For aggression, the most used drugs were atypical antipsychotics (82.9%). For anxiety, 55.2% use antidepressants, 17.9% use atypical antipsychotics, and 16.9% use benzodiazepines. Interestingly, most of the centers apply non-pharmacological treatments for BPSD. Some differences emerged
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- 2022
39. Neurological soft signs are increased in migraine without aura: relationship with the affective status
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Tremolizzo, L, Selvatico, D, Pozzi, F, Cereda, D, Difrancesco, J, Fumagalli, L, Ferrarese, C, Appollonio, I, Tremolizzo, Lucio, Selvatico, Daniele, Pozzi, Federico Emanuele, Cereda, Diletta, DiFrancesco, Jacopo Cosimo, Fumagalli, Lorenzo, Ferrarese, Carlo, Appollonio, Ildebrando, Tremolizzo, L, Selvatico, D, Pozzi, F, Cereda, D, Difrancesco, J, Fumagalli, L, Ferrarese, C, Appollonio, I, Tremolizzo, Lucio, Selvatico, Daniele, Pozzi, Federico Emanuele, Cereda, Diletta, DiFrancesco, Jacopo Cosimo, Fumagalli, Lorenzo, Ferrarese, Carlo, and Appollonio, Ildebrando
- Abstract
Introduction: Neurological soft signs (NSS) are subtle non-localizing sensorimotor abnormalities initially reported as increased in primary headache patients. The aims of this study were confirming with full power NSS increased expression in migraine and, collaterally, determining if psychiatric traits or white matter lesions at brain imaging could influence this result. Methods: Forty drug-free episodic migraine outpatients (MH) were recruited with 40 matched controls. NSS were determined by the 16-item Heidelberg scale; depression, anxiety and QoL by the HAM-D; the STAI-X1/X2; and the SF36, respectively. The Fazekas scale on brain MR studies was applied in n = 32 MH, unravelling deep white matter signal alterations (DWM). MH characteristics, including the headache disability inventory (HDI), were recorded. Results: NSS were 46% increased in MH vs. controls (p = 0.0001). HAM-D and STAI-X1/X2 were increased in MH, while SF36 was unchanged, but they all failed to influence NSS, just as MH characteristics. NSS scores were increased in MH-DWM + (n = 11, + 85%) vs. MH-DWM − (n = 21, + 27%) vs. controls (p < 0.0001). NSS increased expression in MH was influenced by DWM, while psychiatric traits and headache characteristics failed to do so. Discussion/conclusions: NSS are increased in MH and probably not influenced by the affective status, possibly marking a dysfunction within the cerebellar-thalamic-prefrontal circuit that may deserve further attention from the prognostic point of view.
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- 2022
40. Resting state functional brain networks associated with emotion processing in frontotemporal lobar degeneration
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Canu, E, Calderaro, D, Castelnovo, V, Basaia, S, Magno, M, Riva, N, Magnani, G, Caso, F, Caroppo, P, Prioni, S, Villa, C, Pain, D, Mora, G, Tremolizzo, L, Appollonio, I, Poletti, B, Silani, V, Filippi, M, Agosta, F, Canu, Elisa, Calderaro, Davide, Castelnovo, Veronica, Basaia, Silvia, Magno, Maria Antonietta, Riva, Nilo, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Pain, Debora, Mora, Gabriele, Tremolizzo, Lucio, Appollonio, Ildebrando, Poletti, Barbara, Silani, Vincenzo, Filippi, Massimo, Agosta, Federica, Canu, E, Calderaro, D, Castelnovo, V, Basaia, S, Magno, M, Riva, N, Magnani, G, Caso, F, Caroppo, P, Prioni, S, Villa, C, Pain, D, Mora, G, Tremolizzo, L, Appollonio, I, Poletti, B, Silani, V, Filippi, M, Agosta, F, Canu, Elisa, Calderaro, Davide, Castelnovo, Veronica, Basaia, Silvia, Magno, Maria Antonietta, Riva, Nilo, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Pain, Debora, Mora, Gabriele, Tremolizzo, Lucio, Appollonio, Ildebrando, Poletti, Barbara, Silani, Vincenzo, Filippi, Massimo, and Agosta, Federica
- Abstract
This study investigated the relationship between emotion processing and resting-state functional connectivity (rs-FC) of the brain networks in frontotemporal lobar degeneration (FTLD). Eighty FTLD patients (including cases with behavioral variant of frontotemporal dementia, primary progressive aphasia, progressive supranuclear palsy syndrome, motor neuron disease) and 65 healthy controls underwent rs-functional MRI. Emotion processing was tested using the Comprehensive Affect Testing System (CATS). In patients and controls, correlations were investigated between each emotion construct and rs-FC changes within critical networks. Mean rs-FC of the clusters significantly associated with CATS scoring were compared among FTLD groups. FTLD patients had pathological CATS scores compared with controls. In controls, increased rs-FC of the cerebellar and visuo-associative networks correlated with better scores in emotion-matching and discrimination tasks, respectively; while decreased rs-FC of the visuo-spatial network was related with better performance in the affect-matching and naming. In FTLD, the associations between rs-FC and CATS scores involved more brain regions, such as orbitofrontal and middle frontal gyri within anterior networks (i.e., salience and default-mode), parietal and somatosensory regions within visuo-spatial and sensorimotor networks, caudate and thalamus within basal-ganglia network. Rs-FC changes associated with CATS were similar among all FTLD groups. In FTLD compared to controls, the pattern of rs-FC associated with emotional processing involves a larger number of brain regions, likely due to functional specificity loss and compensatory attempts. These associations were similar across all FTLD groups, suggesting a common physiopathological mechanism of emotion processing breakdown, regardless the clinical presentation and pattern of atrophy.
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- 2022
41. Italian Frontotemporal Dementia Network (FTD Group-SINDEM): sharing clinical and diagnostic procedures in Frontotemporal Dementia in Italy
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Borroni, B., Turrone, R., Galimberti, D., Nacmias, B., Alberici, A., Benussi, A., Caffarra, P., Caltagirone, C., Cappa, S. F., Frisoni, G. B., Ghidoni, R., Marra, C., Padovani, A., Rainero, I., Scarpini, E., Silani, V., Sorbi, S., Tagliavini, F., Tremolizzo, L., Bruni, A. C., and The FTD Group-SINDEM
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- 2015
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42. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)
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van Rheenen, W, van der Spek, RAA, Bakker, MK, van Vugt, JJFA, Hop, PJ, Zwamborn, RAJ, de Klein, N, Westra, HJ, Bakker, OB, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, AM, Gawor, K, Westeneng, HJ, Tazelaar, GHP, van Eijk, KR, Kooyman, M, Byrne, RP, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, BN, Gromicho, M, Chandran, S, Pal, S, Morrison, KE, Shaw, PJ, Hardy, J, Orrell, RW, Sendtner, M, Meyer, T, Basak, N, van der Kooi, AJ, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, RH, Bell, S, Vourc'h, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Pardina, JMS, Assialioui, A, Rojas-Garcia, R, Dion, PA, Ross, JP, Ludolph, AC, Weishaupt, JH, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, CAM, Saker-Delye, S, Wood, NW, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, DC, Olsen, CM, Uitterlinden, AG, Hofman, A, Rietschel, M, Cichon, S, Nothen, MM, Amouyel, P, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Cotelli, MS, Rinaldi, F, Chiveri, L, Guaita, MC, Perrone, P, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, ML, Bono, G, Manera, U, Vasta, R, Bombaci, A, Casale, F, Fuda, G, Salamone, P, Iazzolino, B, Peotta, L, Cugnasco, P, De Marco, G, Torrieri, MC, Palumbo, F, Gallone, S, Barberis, M, Sbaiz, L, Gentile, S, Mauro, A, De Marchi, F, D'Alfonso, S, Bertolotto, A, Gionco, M, Leotta, D, Odddenino, E, Imperiale, D, Cavallo, R, Pignatta, P, De Mattei, M, Geda, C, Papurello, DM, Gusmaroli, G, Comi, C, Labate, C, Ruiz, L, Ferrandi, D, Rota, E, Aguggia, M, Di Vito, N, Meineri, P, Ghiglione, P, Launaro, N, Dotta, M, Di Sapio, A, Giardini, G, Tiloca, C, Peverelli, S, Taroni, F, Pensato, V, Castellotti, B, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Corrado, L, Mazzini, L, Raggi, F, Simoncini, C, Lo Gerfo, A, Inghilleri, M, Ferlini, A, Simone, IL, Passarella, B, Guerra, V, Zoccolella, S, Nozzoli, C, Mundi, C, Leone, M, Zarrelli, M, Tamma, F, Valluzzi, F, Calabrese, G, Boero, G, Rini, A, Traynor, BJ, Singleton, AB, Neto, MM, Cauchi, RJ, Ophoff, RA, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, VM, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, OW, Steinbach, R, Hubner, CA, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, IP, Kiernan, MC, Benyamin, B, Henderson, RD, Furlong, S, Mathers, S, McCombe, PA, Needham, M, Ngo, ST, Nicholson, GA, Pamphlett, R, Rowe, DB, Steyn, FJ, Williams, KL, Mather, KA, Sachdev, PS, Henders, AK, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, GA, Silani, V, Curtis, CJ, Breen, G, Glass, JD, Brown, RH, Landers, JE, Shaw, CE, Andersen, PM, Groen, EJN, van Es, MA, Pasterkamp, RJ, Fan, DS, Garton, FC, McRae, AF, Smith, GD, Gaunt, TR, Eberle, MA, Mill, J, McLaughlin, RL, Hardiman, O, Kenna, KP, Wray, NR, Tsai, EL, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, LH, Veldink, JH, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, and SLAP Consortium
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- 2022
43. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)
- Author
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van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H. -J., Bakker, O. B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A. M., Gawor, K., Westeneng, H. -J., Tazelaar, G. H. P., van Eijk, K. R., Kooyman, M., Byrne, R. P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B. N., Gromicho, M., Chandran, S., Pal, S., Morrison, K. E., Shaw, P. J., Hardy, J., Orrell, R. W., Sendtner, M., Meyer, T., Basak, N., van der Kooi, A. J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D'Alfonso, S., Soraru, G., Siciliano, G., Filosto, M., Padovani, A., Chio, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R. H., Bell, S., Vourc'H, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J. S., Assialioui, A., Rojas-Garcia, R., Dion, P. A., Ross, J. P., Ludolph, A. C., Weishaupt, J. H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C. A. M., Saker-Delye, S., Wood, N. W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Braun, A., Kraft, J., Whiteman, D. C., Olsen, C. M., Uitterlinden, A. G., Hofman, A., Rietschel, M., Cichon, S., Nothen, M. M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M. S., Rinaldi, F., Chiveri, L., Guaita, M. C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M. L., Bono, G., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M. C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D. M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G. P., Del Bo, R., Gagliardi, S., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I. L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B. J., Singleton, A. B., Mitne Neto, M., Cauchi, R. J., Ophoff, R. A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V. M., Grosskreutz, J., Roediger, A., Gaur, N., Jork, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O. W., Steinbach, R., Hubner, C. A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavac, M., Glavac, D., Stevic, Z., Drory, V., Povedano, M., Blair, I. P., Kiernan, M. C., Benyamin, B., Henderson, R. D., Furlong, S., Mathers, S., Mccombe, P. A., Needham, M., Ngo, S. T., Nicholson, G. A., Pamphlett, R., Rowe, D. B., Steyn, F. J., Williams, K. L., Mather, K. A., Sachdev, P. S., Henders, A. K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G. A., Silani, V., Curtis, C. J., Breen, G., Glass, J. D., Brown, R. H., Landers, J. E., Shaw, C. E., Andersen, P. M., Groen, E. J. N., van Es, M. A., Pasterkamp, R. J., Fan, D., Garton, F. C., Mcrae, A. F., Davey Smith, G., Gaunt, T. R., Eberle, M. A., Mill, J., Mclaughlin, R. L., Hardiman, O., Kenna, K. P., Wray, N. R., Tsai, E., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L. H., and Veldink, J. H.
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- 2022
44. New insights into the genetic etiology of Alzheimer's disease and related dementias
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Bellenguez, C. Küçükali, F. Jansen, I.E. Kleineidam, L. Moreno-Grau, S. Amin, N. Naj, A.C. Campos-Martin, R. Grenier-Boley, B. Andrade, V. Holmans, P.A. Boland, A. Damotte, V. van der Lee, S.J. Costa, M.R. Kuulasmaa, T. Yang, Q. de Rojas, I. Bis, J.C. Yaqub, A. Prokic, I. Chapuis, J. Ahmad, S. Giedraitis, V. Aarsland, D. Garcia-Gonzalez, P. Abdelnour, C. Alarcón-Martín, E. Alcolea, D. Alegret, M. Alvarez, I. Álvarez, V. Armstrong, N.J. Tsolaki, A. Antúnez, C. Appollonio, I. Arcaro, M. Archetti, S. Pastor, A.A. Arosio, B. Athanasiu, L. Bailly, H. Banaj, N. Baquero, M. Barral, S. Beiser, A. Pastor, A.B. Below, J.E. Benchek, P. Benussi, L. Berr, C. Besse, C. Bessi, V. Binetti, G. Bizarro, A. Blesa, R. Boada, M. Boerwinkle, E. Borroni, B. Boschi, S. Bossù, P. Bråthen, G. Bressler, J. Bresner, C. Brodaty, H. Brookes, K.J. Brusco, L.I. Buiza-Rueda, D. Bûrger, K. Burholt, V. Bush, W.S. Calero, M. Cantwell, L.B. Chene, G. Chung, J. Cuccaro, M.L. Carracedo, Á. Cecchetti, R. Cervera-Carles, L. Charbonnier, C. Chen, H.-H. Chillotti, C. Ciccone, S. Claassen, J.A.H.R. Clark, C. Conti, E. Corma-Gómez, A. Costantini, E. Custodero, C. Daian, D. Dalmasso, M.C. Daniele, A. Dardiotis, E. Dartigues, J.-F. de Deyn, P.P. de Paiva Lopes, K. de Witte, L.D. Debette, S. Deckert, J. Del Ser, T. Denning, N. DeStefano, A. Dichgans, M. Diehl-Schmid, J. Diez-Fairen, M. Rossi, P.D. Djurovic, S. Duron, E. Düzel, E. Dufouil, C. Eiriksdottir, G. Engelborghs, S. Escott-Price, V. Espinosa, A. Ewers, M. Faber, K.M. Fabrizio, T. Nielsen, S.F. Fardo, D.W. Farotti, L. Fenoglio, C. Fernández-Fuertes, M. Ferrari, R. Ferreira, C.B. Ferri, E. Fin, B. Fischer, P. Fladby, T. Fließbach, K. Fongang, B. Fornage, M. Fortea, J. Foroud, T.M. Fostinelli, S. Fox, N.C. Franco-Macías, E. Bullido, M.J. Frank-García, A. Froelich, L. Fulton-Howard, B. Galimberti, D. García-Alberca, J.M. García-González, P. Garcia-Madrona, S. Garcia-Ribas, G. Ghidoni, R. Giegling, I. Giorgio, G. Goate, A.M. Goldhardt, O. Gomez-Fonseca, D. González-Pérez, A. Graff, C. Grande, G. Green, E. Grimmer, T. Grünblatt, E. Grunin, M. Gudnason, V. Guetta-Baranes, T. Haapasalo, A. Hadjigeorgiou, G. Haines, J.L. Hamilton-Nelson, K.L. Hampel, H. Hanon, O. Hardy, J. Hartmann, A.M. Hausner, L. Harwood, J. Heilmann-Heimbach, S. Helisalmi, S. Heneka, M.T. Hernández, I. Herrmann, M.J. Hoffmann, P. Holmes, C. Holstege, H. Vilas, R.H. Hulsman, M. Humphrey, J. Biessels, G.J. Jian, X. Johansson, C. Jun, G.R. Kastumata, Y. Kauwe, J. Kehoe, P.G. Kilander, L. Ståhlbom, A.K. Kivipelto, M. Koivisto, A. Kornhuber, J. Kosmidis, M.H. Kukull, W.A. Kuksa, P.P. Kunkle, B.W. Kuzma, A.B. Lage, C. Laukka, E.J. Launer, L. Lauria, A. Lee, C.-Y. Lehtisalo, J. Lerch, O. Lleó, A. Longstreth, W., Jr Lopez, O. de Munain, A.L. Love, S. Löwemark, M. Luckcuck, L. Lunetta, K.L. Ma, Y. Macías, J. MacLeod, C.A. Maier, W. Mangialasche, F. Spallazzi, M. Marquié, M. Marshall, R. Martin, E.R. Montes, A.M. Rodríguez, C.M. Masullo, C. Mayeux, R. Mead, S. Mecocci, P. Medina, M. Meggy, A. Mehrabian, S. Mendoza, S. Menéndez-González, M. Mir, P. Moebus, S. Mol, M. Molina-Porcel, L. Montrreal, L. Morelli, L. Moreno, F. Morgan, K. Mosley, T. Nöthen, M.M. Muchnik, C. Mukherjee, S. Nacmias, B. Ngandu, T. Nicolas, G. Nordestgaard, B.G. Olaso, R. Orellana, A. Orsini, M. Ortega, G. Padovani, A. Paolo, C. Papenberg, G. Parnetti, L. Pasquier, F. Pastor, P. Peloso, G. Pérez-Cordón, A. Pérez-Tur, J. Pericard, P. Peters, O. Pijnenburg, Y.A.L. Pineda, J.A. Piñol-Ripoll, G. Pisanu, C. Polak, T. Popp, J. Posthuma, D. Priller, J. Puerta, R. Quenez, O. Quintela, I. Thomassen, J.Q. Rábano, A. Rainero, I. Rajabli, F. Ramakers, I. Real, L.M. Reinders, M.J.T. Reitz, C. Reyes-Dumeyer, D. Ridge, P. Riedel-Heller, S. Riederer, P. Roberto, N. Rodriguez-Rodriguez, E. Rongve, A. Allende, I.R. Rosende-Roca, M. Royo, J.L. Rubino, E. Rujescu, D. Sáez, M.E. Sakka, P. Saltvedt, I. Sanabria, Á. Sánchez-Arjona, M.B. Sanchez-Garcia, F. Juan, P.S. Sánchez-Valle, R. Sando, S.B. Sarnowski, C. Satizabal, C.L. Scamosci, M. Scarmeas, N. Scarpini, E. Scheltens, P. Scherbaum, N. Scherer, M. Schmid, M. Schneider, A. Schott, J.M. Selbæk, G. Seripa, D. Serrano, M. Sha, J. Shadrin, A.A. Skrobot, O. Slifer, S. Snijders, G.J.L. Soininen, H. Solfrizzi, V. Solomon, A. Song, Y. Sorbi, S. Sotolongo-Grau, O. Spalletta, G. Spottke, A. Squassina, A. Stordal, E. Tartan, J.P. Tárraga, L. Tesí, N. Thalamuthu, A. Thomas, T. Tosto, G. Traykov, L. Tremolizzo, L. Tybjærg-Hansen, A. Uitterlinden, A. Ullgren, A. Ulstein, I. Valero, S. Valladares, O. Broeckhoven, C.V. Vance, J. Vardarajan, B.N. van der Lugt, A. Dongen, J.V. van Rooij, J. van Swieten, J. Vandenberghe, R. Verhey, F. Vidal, J.-S. Vogelgsang, J. Vyhnalek, M. Wagner, M. Wallon, D. Wang, L.-S. Wang, R. Weinhold, L. Wiltfang, J. Windle, G. Woods, B. Yannakoulia, M. Zare, H. Zhao, Y. Zhang, X. Zhu, C. Zulaica, M. Farrer, L.A. Psaty, B.M. Ghanbari, M. Raj, T. Sachdev, P. Mather, K. Jessen, F. Ikram, M.A. de Mendonça, A. Hort, J. Tsolaki, M. Pericak-Vance, M.A. Amouyel, P. Williams, J. Frikke-Schmidt, R. Clarimon, J. Deleuze, J.-F. Rossi, G. Seshadri, S. Andreassen, O.A. Ingelsson, M. Hiltunen, M. Sleegers, K. Schellenberg, G.D. van Duijn, C.M. Sims, R. van der Flier, W.M. Ruiz, A. Ramirez, A. Lambert, J.-C. EADB GR@ACE DEGESCO EADI GERAD Demgene FinnGen ADGC CHARGE
- Abstract
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele. © 2022. The Author(s).
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- 2022
45. The peripheral nervous system in amyotrophic lateral sclerosis: Opportunities for translational research
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Gentile, F, Scarlino, S, Falzone, Y, Lunetta, C, Tremolizzo, L, Quattrini, A, Riva, N, Gentile F., Scarlino S., Falzone Y. M., Lunetta C., Tremolizzo L., Quattrini A., Riva N., Gentile, F, Scarlino, S, Falzone, Y, Lunetta, C, Tremolizzo, L, Quattrini, A, Riva, N, Gentile F., Scarlino S., Falzone Y. M., Lunetta C., Tremolizzo L., Quattrini A., and Riva N.
- Abstract
Although amyotrophic lateral sclerosis (ALS) has been considered as a disorder of the motor neuron (MN) cell body, recent evidences show the non-cell-autonomous pathogenic nature of the disease. Axonal degeneration, loss of peripheral axons and destruction of nerve terminals are early events in the disease pathogenic cascade, anticipating MN degeneration, and the onset of clinical symptoms. Therefore, although ALS and peripheral axonal neuropathies should be differentiated in clinical practice, they also share damage to common molecular pathways, including axonal transport, RNA metabolism and proteostasis. Thus, an extensive evaluation of the molecular events occurring in the peripheral nervous system (PNS) could be fundamental to understand the pathogenic mechanisms of ALS, favoring the discovery of potential disease biomarkers, and new therapeutic targets
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- 2019
46. Generation and validation of algorithms to identify subjects with dementia using administrative data
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Difrancesco, J, Pina, A, Giussani, G, Cortesi, L, Bianchi, E, Cavalieri d'Oro, L, Amodio, E, Nobili, A, Tremolizzo, L, Isella, V, Appollonio, I, Ferrarese, C, Beghi, E, DiFrancesco J. C., PINA, ALESSANDRA, Giussani G., Cortesi L., Bianchi E., Cavalieri d'Oro L., Amodio E., Nobili A., Tremolizzo L., Isella V., Appollonio I., Ferrarese C., Beghi E., Difrancesco, J, Pina, A, Giussani, G, Cortesi, L, Bianchi, E, Cavalieri d'Oro, L, Amodio, E, Nobili, A, Tremolizzo, L, Isella, V, Appollonio, I, Ferrarese, C, Beghi, E, DiFrancesco J. C., PINA, ALESSANDRA, Giussani G., Cortesi L., Bianchi E., Cavalieri d'Oro L., Amodio E., Nobili A., Tremolizzo L., Isella V., Appollonio I., Ferrarese C., and Beghi E.
- Abstract
Objectives: To generate and validate algorithms for the identification of individuals with dementia in the community setting, by the interrogation of administrative records, an inexpensive and already available source of data. Methods: We collected and anonymized information on demented individuals 65 years of age or older from ten general practitioners (GPs) in the district of Brianza (Northern Italy) and compared this with the administrative data of the local health protection agency (Agenzia per la Tutela della Salute). Indicators of the disease in the administrative database (diagnosis of dementia in the hospital discharge records; use of cholinesterase inhibitors/memantine; neuropsychological tests; brain CT/MRI; outpatient neurological visits) were used separately and in different combinations to generate algorithms for the detection of patients with dementia. Results: When used individually, indicators of dementia showed good specificity, but low sensitivity. By their combination, we generated different algorithms: I-therapy with ChEI/memantine or diagnosis of dementia at discharge or neuropsychological tests (specificity 97.9%, sensitivity 52.5%); II-therapy with ChEI/memantine or diagnosis of dementia at discharge or neuropsychological tests or brain CT/MRI or neurological visit (sensitivity 90.8%, specificity 70.6%); III-therapy with ChEI/memantine or diagnosis of dementia at discharge or neuropsychological tests or brain CT/MRIMRI and neurological visit (specificity 89.3%, sensitivity 73.3%). Conclusions: These results show that algorithms obtained from administrative data are not sufficiently accurate in classifying patients with dementia, whichever combination of variables is used for the identification of the disease. Studies in large patient cohorts are needed to develop further strategies for identifying patients with dementia in the community setting.
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- 2019
47. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
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Bandres-Ciga, S, Noyce, A, Hemani, G, Nicolas, A, Calvo, A, Mora, G, Tienari, P, Stone, D, Nalls, M, Singleton, A, Chiò, A, Traynor, Bryan, J, Tremolizzo, L, Bandres-Ciga, Sara, Noyce, Alastair J, Hemani, Gibran, Nicolas, Aude, Calvo, Andrea, Mora, Gabriele, Tienari, Pentti J, Stone, David J, Nalls, Mike A, Singleton, Andrew B, Chiò, Adriano, Bryan J, Tremolizzo L, Bandres-Ciga, S, Noyce, A, Hemani, G, Nicolas, A, Calvo, A, Mora, G, Tienari, P, Stone, D, Nalls, M, Singleton, A, Chiò, A, Traynor, Bryan, J, Tremolizzo, L, Bandres-Ciga, Sara, Noyce, Alastair J, Hemani, Gibran, Nicolas, Aude, Calvo, Andrea, Mora, Gabriele, Tienari, Pentti J, Stone, David J, Nalls, Mike A, Singleton, Andrew B, Chiò, Adriano, Bryan J, and Tremolizzo L
- Abstract
Objective: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore genetic correlations and causal relationships between >700 phenotypic traits and ALS. Exposures consisted of publicly available genome-wide association studies (GWASes) summary statistics from MR Base and LD-hub. The outcome data came from the recently published ALS GWAS involving 20,806 cases and 59,804 controls. Multivariate analyses, genetic risk profiling, and Bayesian colocalization analyses were also performed. Results: We have shown, by linkage disequilibrium score regression, that ALS shares polygenic risk genetic factors with a number of traits and conditions, including positive correlations with smoking status and moderate levels of physical activity, and negative correlations with higher cognitive performance, higher educational attainment, and light levels of physical activity. Using Mendelian randomization, we found evidence that hyperlipidemia is a causal risk factor for ALS and localized putative functional signals within loci of interest. Interpretation: Here, we have developed a public resource (https://lng-nia.shinyapps.io/mrshiny) which we hope will become a valuable tool for the ALS community, and that will be expanded and updated as new data become available. Shared polygenic risk exists between ALS and educational attainment, physical activity, smoking, and tenseness/restlessness. We also found evidence that elevated low-desnity lipoprotein cholesterol is a causal risk factor for ALS. Future randomized controlled trials should be considered as a proof of causality. Ann Neurol 2019;85:470–481.
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- 2019
48. Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR
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Peters S., Vlaanderen J., Portengen L., Vermeulen R., Visser A. E., Veldink J. H., Van Den Berg L. H., D'Ovidio F., Chio A., Beghi E., Pupillo E., Logroscino G., Hardiman O., Van Der Kooi A. J., Raaphorst J., Calvo A., Moglia C., Casale F., Fuda G., Canosa A., Manera U., Bombaci A., Grassano M., Vasta R., Salamone P., Marrali G., Iazzolino B., Mazzini L., Rooney J., Heverin M., Vajda A., Comi G., Riva N., Lunetta C., Gerardi F., Filosto M., Cotelli M. S., Rinaldi F., Chiveri L., Guaita M. C., Perrone P., Mauro C., Diamanti L., Ferrarese C., Tremolizzo L., Delodovici M. L., Bono G., Tortelli R., Zecca C., Peters, S, Vlaanderen, J, Portengen, L, Vermeulen, R, Visser, A, Veldink, J, Van Den Berg, L, D'Ovidio, F, Chio, A, Beghi, E, Pupillo, E, Logroscino, G, Hardiman, O, Van Der Kooi, A, Raaphorst, J, Calvo, A, Moglia, C, Casale, F, Fuda, G, Canosa, A, Manera, U, Bombaci, A, Grassano, M, Vasta, R, Salamone, P, Marrali, G, Iazzolino, B, Mazzini, L, Rooney, J, Heverin, M, Vajda, A, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Filosto, M, Cotelli, M, Rinaldi, F, Chiveri, L, Guaita, M, Perrone, P, Mauro, C, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, M, Bono, G, Tortelli, R, Zecca, C, Neurology, ANS - Neuroinfection & -inflammation, and ANS - Neurodegeneration
- Subjects
Adult ,Male ,case-control study ,Population ,Logistic regression ,amyotrophic lateral sclerosis ,pooled analysis ,tobacco ,Risk Assessment ,Cigarette Smoking ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Risk Factors ,Medicine ,Humans ,amyotrophic lateral sclerosi ,pooled analysi ,030212 general & internal medicine ,Amyotrophic lateral sclerosis ,education ,Association (psychology) ,Aged ,Netherlands ,education.field_of_study ,business.industry ,Amyotrophic Lateral Sclerosis ,Smoking ,Case-control study ,Middle Aged ,medicine.disease ,3. Good health ,Intensity (physics) ,Psychiatry and Mental health ,Quartile ,Italy ,Socioeconomic Factors ,Duration (music) ,Case-Control Studies ,Surgery ,Female ,Smoking Cessation ,Neurology (clinical) ,business ,Ireland ,030217 neurology & neurosurgery ,Demography - Abstract
BackgroundWe investigated the association between cigarette smoking and risk of amyotrophic lateral sclerosis (ALS) in a pooled analysis of population-based case–control studies and explored the independent effects of intensity, duration and time-since-quitting.MethodsALS cases and controls, matched by age, sex and region, were recruited in the Netherlands, Italy and Ireland (*Euro-MOTOR project). Demographics and detailed lifetime smoking histories were collected through questionnaires. Effects of smoking status, intensity (cigarettes/day), duration (years), pack-years and time-since-quitting (years) on ALS risk were estimated using logistic regression models, adjusting for age, sex, alcohol, education and centre. We further investigated effect modification of the linear effects of pack-years by intensity, duration and time-since-quitting using excess OR (eOR) models.ResultsAnalyses were performed on 1410 cases and 2616 controls. Pack-years were positively associated with ALS risk; OR=1.26 (95% CI: 1.03 to 1.54) for the highest quartile compared with never smokers. This association appeared to be predominantly driven by smoking duration (ptrend=0.001) rather than intensity (ptrend=0.86), although the trend for duration disappeared after adjustment for time-since-quitting. Time-since-quitting was inversely related to ALS (ptrendConclusionsOur findings provide further support for the association between smoking and ALS. Pack-years alone may be insufficient to capture effects of different smoking patterns. Time-since-quitting appeared to be an important factor, suggesting that smoking may be an early disease trigger.
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- 2020
49. Paraneoplastic cerebellar degeneration with anti-CV2/CRMP5 antibodies and prostate adenocarcinoma
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Aliprandi, A., Terruzzi, A., Rigamonti, A., Bazzigaluppi, E., Tremolizzo, L., Ferrarese, C., and Salmaggi, A.
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- 2015
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50. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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de Rojas, I. Moreno-Grau, S. Tesi, N. Grenier-Boley, B. Andrade, V. Jansen, I.E. Pedersen, N.L. Stringa, N. Zettergren, A. Hernández, I. Montrreal, L. Antúnez, C. Antonell, A. Tankard, R.M. Bis, J.C. Sims, R. Bellenguez, C. Quintela, I. González-Perez, A. Calero, M. Franco-Macías, E. Macías, J. Blesa, R. Cervera-Carles, L. Menéndez-González, M. Frank-García, A. Royo, J.L. Moreno, F. Huerto Vilas, R. Baquero, M. Diez-Fairen, M. Lage, C. García-Madrona, S. García-González, P. Alarcón-Martín, E. Valero, S. Sotolongo-Grau, O. Ullgren, A. Naj, A.C. Lemstra, A.W. Benaque, A. Pérez-Cordón, A. Benussi, A. Rábano, A. Padovani, A. Squassina, A. de Mendonça, A. Arias Pastor, A. Kok, A.A.L. Meggy, A. Pastor, A.B. Espinosa, A. Corma-Gómez, A. Martín Montes, A. Sanabria, Á. DeStefano, A.L. Schneider, A. Haapasalo, A. Kinhult Ståhlbom, A. Tybjærg-Hansen, A. Hartmann, A.M. Spottke, A. Corbatón-Anchuelo, A. Rongve, A. Borroni, B. Arosio, B. Nacmias, B. Nordestgaard, B.G. Kunkle, B.W. Charbonnier, C. Abdelnour, C. Masullo, C. Martínez Rodríguez, C. Muñoz-Fernandez, C. Dufouil, C. Graff, C. Ferreira, C.B. Chillotti, C. Reynolds, C.A. Fenoglio, C. Van Broeckhoven, C. Clark, C. Pisanu, C. Satizabal, C.L. Holmes, C. Buiza-Rueda, D. Aarsland, D. Rujescu, D. Alcolea, D. Galimberti, D. Wallon, D. Seripa, D. Grünblatt, E. Dardiotis, E. Düzel, E. Scarpini, E. Conti, E. Rubino, E. Gelpi, E. Rodriguez-Rodriguez, E. Duron, E. Boerwinkle, E. Ferri, E. Tagliavini, F. Küçükali, F. Pasquier, F. Sanchez-Garcia, F. Mangialasche, F. Jessen, F. Nicolas, G. Selbæk, G. Ortega, G. Chêne, G. Hadjigeorgiou, G. Rossi, G. Spalletta, G. Giaccone, G. Grande, G. Binetti, G. Papenberg, G. Hampel, H. Bailly, H. Zetterberg, H. Soininen, H. Karlsson, I.K. Alvarez, I. Appollonio, I. Giegling, I. Skoog, I. Saltvedt, I. Rainero, I. Rosas Allende, I. Hort, J. Diehl-Schmid, J. Van Dongen, J. Vidal, J.-S. Lehtisalo, J. Wiltfang, J. Thomassen, J.Q. Kornhuber, J. Haines, J.L. Vogelgsang, J. Pineda, J.A. Fortea, J. Popp, J. Deckert, J. Buerger, K. Morgan, K. Fließbach, K. Sleegers, K. Molina-Porcel, L. Kilander, L. Weinhold, L. Farrer, L.A. Wang, L.-S. Kleineidam, L. Farotti, L. Parnetti, L. Tremolizzo, L. Hausner, L. Benussi, L. Froelich, L. Ikram, M.A. Deniz-Naranjo, M.C. Tsolaki, M. Rosende-Roca, M. Löwenmark, M. Hulsman, M. Spallazzi, M. Pericak-Vance, M.A. Esiri, M. Bernal Sánchez-Arjona, M. Dalmasso, M.C. Martínez-Larrad, M.T. Arcaro, M. Nöthen, M.M. Fernández-Fuertes, M. Dichgans, M. Ingelsson, M. Herrmann, M.J. Scherer, M. Vyhnalek, M. Kosmidis, M.H. Yannakoulia, M. Schmid, M. Ewers, M. Heneka, M.T. Wagner, M. Scamosci, M. Kivipelto, M. Hiltunen, M. Zulaica, M. Alegret, M. Fornage, M. Roberto, N. van Schoor, N.M. Seidu, N.M. Banaj, N. Armstrong, N.J. Scarmeas, N. Scherbaum, N. Goldhardt, O. Hanon, O. Peters, O. Skrobot, O.A. Quenez, O. Lerch, O. Bossù, P. Caffarra, P. Dionigi Rossi, P. Sakka, P. Hoffmann, P. Holmans, P.A. Fischer, P. Riederer, P. Yang, Q. Marshall, R. Kalaria, R.N. Mayeux, R. Vandenberghe, R. Cecchetti, R. Ghidoni, R. Frikke-Schmidt, R. Sorbi, S. Hägg, S. Engelborghs, S. Helisalmi, S. Botne Sando, S. Kern, S. Archetti, S. Boschi, S. Fostinelli, S. Gil, S. Mendoza, S. Mead, S. Ciccone, S. Djurovic, S. Heilmann-Heimbach, S. Riedel-Heller, S. Kuulasmaa, T. del Ser, T. Lebouvier, T. Polak, T. Ngandu, T. Grimmer, T. Bessi, V. Escott-Price, V. Giedraitis, V. Deramecourt, V. Maier, W. Jian, X. Pijnenburg, Y.A.L. Smith, A.D. Saenz, A. Bizzarro, A. Lauria, A. Vacca, A. Solomon, A. Anastasiou, A. Richardson, A. Boland, A. Koivisto, A. Daniele, A. Greco, A. Marianthi, A. McGuinness, B. Fin, B. Ferrari, C. Custodero, C. Ferrarese, C. Ingino, C. Mangone, C. Reyes Toso, C. Martínez, C. Cuesta, C. Muchnik, C. Joachim, C. Ortiz, C. Besse, C. Johansson, C. Zoia, C.P. Laske, C. Anastasiou, C. Palacio, D.L. Politis, D.G. Janowitz, D. Craig, D. Mann, D.M. Neary, D. Jürgen, D. Daian, D. Belezhanska, D. Kohler, E. Castaño, E.M. Koutsouraki, E. Chipi, E. De Roeck, E. Costantini, E. Vardy, E.R.L.C. Piras, F. Roveta, F. Piras, F. Prestia, F.A. Assogna, F. Salani, F. Sala, G. Lacidogna, G. Novack, G. Wilcock, G. Thonberg, H. Kölsch, H. Weber, H. Boecker, H. Etchepareborda, I. Piaceri, I. Tuomilehto, J. Lindström, J. Laczo, J. Johnston, J. Deleuze, J.-F. Harris, J. Schott, J.M. Priller, J. Bacha, J.I. Snowden, J. Lisso, J. Mihova, K.Y. Traykov, L. Morelli, L. Brusco, L.I. Rainer, M. Takalo, M. Bjerke, M. Del Zompo, M. Serpente, M. Sanchez Abalos, M. Rios, M. Peltonen, M. Herrman, M.J. Kosmidis, M.H. Kohler, M. Rojo, M. Jones, M. Orsini, M. Medel, N. Olivar, N. Fox, N.C. Salvadori, N. Hooper, N.M. Galeano, P. Solis, P. Bastiani, P. Mecocci, P. Passmore, P. Heun, R. Antikainen, R. Olaso, R. Perneczky, R. Germani, S. López-García, S. Love, S. Mehrabian, S. Bagnoli, S. Kochen, S. Andreoni, S. Teipel, S. Todd, S. Pickering-Brown, S. Natunen, T. Tegos, T. Laatikainen, T. Strandberg, T. Polvikoski, T.M. Matoska, V. Ciullo, V. Cores, V. Solfrizzi, V. 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Franco-Macías, E. Frank-García, A. García-Alberca, J.M. Garcia Madrona, S. Garcia-Ribas, G. Gómez-Garre, P. Hernández, I. Hevilla, S. Jesús, S. Labrador Espinosa, M.A. Lage, C. Legaz, A. Lleó, A. Lopez de Munain, A. López-García, S. Macias-García, D. Manzanares, S. Marín, M. Marín-Muñoz, J. Marín, T. Marquié, M. Martín Montes, A. Martínez, B. Martínez, C. Martínez, V. Martínez-Lage Álvarez, P. Medina, M. Mendioroz Iriarte, M. Mir, P. Molinuevo, J.L. Pastor, P. Pérez Tur, J. Periñán-Tocino, T. Pineda-Sanchez, R. Piñol-Ripoll, G. Rábano, A. Real de Asúa, D. Rodrigo, S. Rodríguez-Rodríguez, E. Royo, J.L. Ruiz, A. Sanchez del Valle Díaz, R. Sánchez-Juan, P. Sastre, I. Valero, S. Vicente, M.P. Vigo-Ortega, R. Vivancos, L. Macleod, C. McCracken, C. Brayne, C. Bresner, C. Grozeva, D. Bellou, E. Sommerville, E.W. Matthews, F. Leonenko, G. Menzies, G. Windle, G. Harwood, J. Phillips, J. Bennett, K. Luckuck, L. Clare, L. Woods, R. Saad, S. Burholt, V. Jansen, I.E. Rongve, A. Kehoe, P.G. Garcia-Ribas, G. Sánchez-Juan, P. Pastor, P. Pérez-Tur, J. Piñol-Ripoll, G. Lopez de Munain, A. García-Alberca, J.M. Bullido, M.J. Álvarez, V. Lleó, A. Real, L.M. Scheltens, P. Holstege, H. Marquié, M. Sáez, M.E. Carracedo, Á. Amouyel, P. Schellenberg, G.D. Williams, J. Seshadri, S. van Duijn, C.M. Mather, K.A. Sánchez-Valle, R. Serrano-Ríos, M. Orellana, A. Tárraga, L. Blennow, K. Huisman, M. Andreassen, O.A. Posthuma, D. Clarimón, J. Boada, M. van der Flier, W.M. Ramirez, A. Lambert, J.-C. van der Lee, S.J. Ruiz, A. EADB contributors The GR@ACE study group DEGESCO consortium IGAP (ADGC, CHARGE, EADI, GERAD) PGC-ALZ consortia
- Abstract
Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
- Published
- 2021
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