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1. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia

Author: Bussy, A., Levy, J., Best, T., Patel, R., Cupo, L., Van Langenhove, T., Nielsen, J., Pijnenburg, Y., Waldö, M., Remes, A., Schroeter, M., Santana, I., Pasquier, F., Otto, M., Danek, A., Levin, J., Le Ber, I., Vandenberghe, R., Synofzik, M., Moreno, F., de Mendonça, A., Sanchez‐Valle, R., Laforce, R., Langheinrich, T., Gerhard, A., Graff, C., Butler, C., Sorbi, S., Jiskoot, L., Seelaar, H., van Swieten, J., Finger, E., Tartaglia, M., Masellis, M., Tiraboschi, P., Galimberti, D., Borroni, B., Rowe, J., Bocchetta, M., Rohrer, J., Devenyi, G., Chakravarty, M., Ducharme, S., Esteve, A., Nelson, A., Bouzigues, A., Heller, C., Greaves, C., Cash, D., Thomas, D., Todd, E., Benotmane, H., Zetterberg, H., Swift, I., Nicholas, J., Samra, K., Russell, L., Shafei, R., Convery, R., Timberlake, C., Cope, T., Rittman, T., Benussi, A., Premi, E., Gasparotti, R., Archetti, S., Gazzina, S., Cantoni, V., Arighi, A., Fenoglio, C., Scarpini, E., Fumagalli, G., Borracci, V., Rossi, G., Giaccone, G., Di Fede, G., Caroppo, P., Prioni, S., Redaelli, V., Tang‐Wai, D., Rogaeva, E., Castelo‐Branco, M., Freedman, M., Keren, R., Black, S., Mitchell, S., Shoesmith, C., Bartha, R., Rademakers, R., Poos, J., Papma, J., Giannini, L., van Minkelen, R., Nacmias, B., Ferrari, C., Polito, C., Lombardi, G., Bessi, V., Veldsman, M., Andersson, C., Thonberg, H., Öijerstedt, L., Jelic, V., Thompson, P., Lladó, A., Antonell, A., Olives, J., Balasa, M., Bargalló, N., Borrego‐Ecija, S., Verdelho, A., Maruta, C., Ferreira, C., Miltenberger, G., do Couto, F., Gabilondo, A., Gorostidi, A., Villanua, J., Cañada, M., Tainta, M., Zulaica, M., Barandiaran, M., Alves, P., Bender, B., Wilke, C., Graf, L., Vogels, A., Vandenbulcke, M., Van Damme, P., Bruffaerts, R., Poesen, K., Rosa‐Neto, P., Gauthier, S., Camuzat, A., Brice, A., Bertrand, A., Funkiewiez, A., Rinaldi, D., Saracino, D., Colliot, O., Sayah, S., Prix, C., Wlasich, E., Wagemann, O., Loosli, S., Schönecker, S., Hoegen, T., Lombardi, J., Anderl‐Straub, S., Rollin, A., Kuchcinski, G., Bertoux, M., Lebouvier, T., Deramecourt, V., Santiago, B., Duro, D., Leitão, M., Almeida, M., Tábuas‐Pereira, M., Afonso, S., Engel, A., Polyakova, M., Erasmus MC other, Neurology, Radiology & Nuclear Medicine, Clinical Genetics, GENetic Frontotemporal dementia Initiative (GENFI), Lombardi, Gemma, Bessi, Valentina, Veldsman, Michele, Andersson, Christin, Thonberg, Hakan, Öijerstedt, Linn, Jelic, Vesna, Thompson, Paul, Langheinrich, Tobias, Lladó, Albert, Antonell, Anna, Olives, Jaume, Balasa, Mircea, Bargalló, Nuria, Borrego-Ecija, Sergi, Verdelho, Ana, Maruta, Carolina, Ferreira, Catarina B, Miltenberger, Gabriel, do Couto, Frederico Simões, Gabilondo, Alazne, Gorostidi, Ana, Villanua, Jorge, Cañada, Marta, Tainta, Mikel, Zulaica, Miren, Barandiaran, Myriam, Alves, Patricia, Bender, Benjamin, Wilke, Carlo, Graf, Lisa, Vogels, Annick, Vandenbulcke, Mathieu, Van Damme, Philip, Bruffaerts, Rose, Poesen, Koen, Rosa-Neto, Pedro, Gauthier, Serge, Camuzat, Agnès, Brice, Alexis, Bertrand, Anne, Funkiewiez, Aurélie, Rinaldi, Daisy, Saracino, Dario, Colliot, Olivier, Sayah, Sabrina, Prix, Catharina, Wlasich, Elisabeth, Wagemann, Olivia, Loosli, Sandra, Schönecker, Sonja, Hoegen, Tobias, Lombardi, Jolina, Anderl-Straub, Sarah, Rollin, Adeline, Kuchcinski, Gregory, Bertoux, Maxime, Lebouvier, Thibaud, Deramecourt, Vincent, Santiago, Beatriz, Duro, Diana, Leitão, Maria João, Almeida, Maria Rosario, Tábuas-Pereira, Miguel, Afonso, Sónia, Engel, Annerose, Polyakova, Maryna, Esteve, Aitana Sogorb, Nelson, Annabel, Bouzigues, Arabella, Heller, Carolin, Greaves, Caroline V, Cash, David, Thomas, David L, Todd, Emily, Benotmane, Hanya, Zetterberg, Henrik, Swift, Imogen J, Nicholas, Jennifer, Samra, Kiran, Russell, Lucy L, Bocchetta, Martina, Shafei, Rachelle, Convery, Rhian S, Timberlake, Carolyn, Cope, Thomas, Rittman, Timothy, Benussi, Alberto, Premi, Enrico, Gasparotti, Roberto, Archetti, Silvana, Gazzina, Stefano, Cantoni, Valentina, Arighi, Andrea, Fenoglio, Chiara, Scarpini, Elio, Fumagalli, Giorgio, Borracci, Vittoria, Rossi, Giacomina, Giaccone, Giorgio, Di Fede, Giuseppe, Caroppo, Paola, Tiraboschi, Pietro, Prioni, Sara, Redaelli, Veronica, Tang-Wai, David, Rogaeva, Ekaterina, Castelo-Branco, Miguel, Freedman, Morris, Keren, Ron, Black, Sandra, Mitchell, Sara, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Poos, Jackie, Papma, Janne M, Giannini, Lucia, van Minkelen, Rick, Pijnenburg, Yolande, Nacmias, Benedetta, Ferrari, Camilla, Polito, Cristina, Bussy, Aurélie [0000-0001-6695-9941], Nielsen, Jørgen E [0000-0003-0453-5582], Borroni, Barbara [0000-0001-9340-9814], Bocchetta, Martina [0000-0003-1814-5024], Devenyi, Gabriel A [0000-0002-7766-1187], Apollo - University of Cambridge Repository, and Amsterdam Neuroscience - Neurodegeneration
Subjects: C9orf72 Protein, Radiological and Ultrasound Technology, Medizin, frontotemporal dementia, Neurology, Frontotemporal Dementia, Cerebellum, Humans, magnetic resonance imaging, genetics, neuropsychiatry, Radiology, Nuclear Medicine and imaging, Human medicine, ddc:610, Neurology (clinical), Atrophy, Anatomy, genetics [Frontotemporal Dementia], genetics [C9orf72 Protein]
Abstract: Funder: Alzheimer Society of Canada; Id: http://dx.doi.org/10.13039/501100000143, Funder: Weston Brain Institute; Id: http://dx.doi.org/10.13039/100012479, Funder: Fonds de Recherche du Québec ‐ Santé, Funder: Canadian Institutes of Health Research; Id: http://dx.doi.org/10.13039/501100000024, Funder: NIHR Rare Diseases Translational Research Collaboration, Funder: Deutsche Forschungsgemeinschaft; Id: http://dx.doi.org/10.13039/501100001659, Recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (FTD) due to microtubule-associated protein tau (MAPT), progranulin (GRN) and chromosome 9 open reading frame 72 (C9orf72). However, the cerebello-subcortical circuitry in FTD has been understudied despite its essential role in cognition and behaviors related to FTD symptomatology. The present study aims to investigate the association between cerebellar and subcortical atrophy, and neuropsychiatric symptoms across genetic mutations. Our study included 983 participants from the Genetic Frontotemporal dementia Initiative including mutation carriers and noncarrier first-degree relatives of known symptomatic carriers. Voxel-wise analysis of the thalamus, striatum, globus pallidus, amygdala, and the cerebellum was performed, and partial least squares analyses (PLS) were used to link morphometry and behavior. In presymptomatic C9orf72 expansion carriers, thalamic atrophy was found compared to noncarriers, suggesting the importance of this structure in FTD prodromes. PLS analyses demonstrated that the cerebello-subcortical circuitry is related to neuropsychiatric symptoms, with significant overlap in brain/behavior patterns, but also specificity for each genetic mutation group. The largest differences were in the cerebellar atrophy (larger extent in C9orf72 expansion group) and more prominent amygdalar volume reduction in the MAPT group. Brain scores in the C9orf72 expansion carriers and MAPT carriers demonstrated covariation patterns concordant with atrophy patterns detectable up to 20 years before expected symptom onset. Overall, these results demonstrated the important role of the subcortical structures in genetic FTD symptom expression, particularly the cerebellum in C9orf72 and the amygdala in MAPT carriers.
Published: 2023
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2. Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales

Author: Samra, K, MacDougall, AM, Peakman, G, Bouzigues, A, Bocchetta, M, Cash, DM, Greaves, CV, Convery, RS, van Swieten, JC, Jiskoot, L, Seelaar, H, Butler, CR, Fenoglio, C, Rohrer, JD, Gerhard, A, Ducharme, S, Le Ber, I, Tiraboschi, P, Santana, I, Pasquier, F, Levin, J, Shoesmith, C, Otto, M, Russell, LL, Nelson, A, Cash, D, Thomas, DL, Todd, E, Ferrari, C, Benotmane, H, Timberlake, C, Gabilondo, A, Cope, T, Rittman, T, Benussi, A, Premi, E, Gasparotti, R, Thompson, P, Archetti, S, Fumagalli, G, do Couto, FS, Borracci, V, Polito, C, Rossi, G, Giaccone, G, Di Fede, G, Caroppo, P, Ferreira, CB, Prioni, S, Langheinrich, T, Redaelli, V, Lladó, A, Bartha, R, Tang-Wai, D, Rogaeva, E, Castelo-Branco, M, Freedman, M, Keren, R, Black, S, Mitchell, S, Miltenberger, G, Rademakers, R, Poos, J, Papma, JM, Giannini, L, van Minkelen, R, Pijnenburg, Y, Gauthier, S, Nacmias, B, Lombardi, G, Bessi, V, Veldsman, M, Andersson, C, Thonberg, H, Öijerstedt, L, Prix, C, Jelic, V, Antonell, A, Graff, C, Olives, J, Balasa, M, Bargalló, N, Borrego-Ecija, S, Verdelho, A, Kuchcinski, G, Maruta, C, Gorostidi, A, Laforce, R, Villanua, J, Wlasich, E, Cañada, M, Tainta, M, Zulaica, M, Barandiaran, M, Moreno, F, Alves, P, Bender, B, Bertoux, M, Wilke, C, Lebouvier, T, Camuzat, A, Graf, L, Vogels, A, Vandenbulcke, M, Van Damme, P, Bruffaerts, R, Poesen, K, Rosa-Neto, P, Sanchez-Valle, R, Brice, A, Bertrand, A, Funkiewiez, A, Rinaldi, D, Saracino, D, Colliot, O, Sorbi, S, Sayah, S, Wagemann, O, Loosli, S, Schönecker, S, Hoegen, T, Lombardi, J, Anderl-Straub, S, Nicholas, J, Rollin, A, Deramecourt, V, Arighi, A, Santiago, B, Duro, D, Leitão, MJ, Almeida, MR, Tábuas-Pereira, M, Gazzina, S, Afonso, S, Masellis, M, Tartaglia, C, Shafei, R, Rowe, JB, Borroni, B, Finger, E, Synofzik, M, Galimberti, D, Vandenberghe, R, de Mendonça, A, Cantoni, V, Genetic FTD Initiative (GENFI), Samra, Kiran [0000-0002-3105-7099], Apollo - University of Cambridge Repository, Maruta, Carolina, Ferreira, Catarina B, Miltenberger, Gabriel, do Couto, Frederico Simões, Gabilondo, Alazne, Gorostidi, Ana, Villanua, Jorge, Cañada, Marta, Tainta, Mikel, Zulaica, Miren, Barandiaran, Myriam, Alves, Patricia, Bender, Benjamin, Wilke, Carlo, Graf, Lisa, Vogels, Annick, Vandenbulcke, Mathieu, Van Damme, Philip, Bruffaerts, Rose, Poesen, Koen, Rosa-Neto, Pedro, Gauthier, Serge, Camuzat, Agnès, Brice, Alexis, Bertrand, Anne, Funkiewiez, Aurélie, Rinaldi, Daisy, Saracino, Dario, Colliot, Olivier, Sayah, Sabrina, Prix, Catharina, Wlasich, Elisabeth, Wagemann, Olivia, Loosli, Sandra, Schönecker, Sonja, Hoegen, Tobias, Lombardi, Jolina, Anderl-Straub, Sarah, Rollin, Adeline, Kuchcinski, Gregory, Bertoux, Maxime, Lebouvier, Thibaud, Deramecourt, Vincent, Santiago, Beatriz, Duro, Diana, Leitão, Maria João, Almeida, Maria Rosario, Tábuas-Pereira, Miguel, Afonso, Sónia, Nelson, Annabel, Bocchetta, Martina, Cash, David, Thomas, David L, Todd, Emily, Benotmane, Hanya, Nicholas, Jennifer, Samra, Kiran, Shafei, Rachelle, Timberlake, Carolyn, Cope, Thomas, Rittman, Timothy, Benussi, Alberto, Premi, Enrico, Gasparotti, Roberto, Archetti, Silvana, Gazzina, Stefano, Cantoni, Valentina, Arighi, Andrea, Fenoglio, Chiara, Fumagalli, Giorgio, Borracci, Vittoria, Rossi, Giacomina, Giaccone, Giorgio, Di Fede, Giuseppe, Caroppo, Paola, Tiraboschi, Pietro, Prioni, Sara, Redaelli, Veronica, Tang-Wai, David, Rogaeva, Ekaterina, Castelo-Branco, Miguel, Freedman, Morris, Keren, Ron, Black, Sandra, Mitchell, Sara, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Poos, Jackie, Papma, Janne M, Giannini, Lucia, van Minkelen, Rick, Pijnenburg, Yolande, Nacmias, Benedetta, Ferrari, Camilla, Polito, Cristina, Lombardi, Gemma, Bessi, Valentina, Veldsman, Michele, Andersson, Christin, Thonberg, Hakan, Öijerstedt, Linn, Jelic, Vesna, Thompson, Paul, Langheinrich, Tobias, Lladó, Albert, Antonell, Anna, Olives, Jaume, Balasa, Mircea, Bargalló, Nuria, Borrego-Ecija, Sergi, and Verdelho, Ana
Subjects: Progranulin, Clinical Neurology, C9ORF72, tau Proteins, AMYOTROPHIC-LATERAL-SCLEROSIS, diagnosis [Frontotemporal Dementia], C9orf72, Tremor, Genetics, Humans, ddc:610, genetics [Frontotemporal Dementia], genetics [C9orf72 Protein], MUTATION, Science & Technology, C9orf72 Protein, HERITABILITY, Amyotrophic Lateral Sclerosis, PROGRESSIVE SUPRANUCLEAR PALSY, COGNITIVE IMPAIRMENT, REPEAT EXPANSION, genetics [tau Proteins], Motor, PATHOLOGICAL FEATURES, Neurology, FOS: Biological sciences, Frontotemporal Dementia, Mutation, Human medicine, Neurosciences & Neurology, Neurology (clinical), Tau, TAU, Life Sciences & Biomedicine, Frontotemporal dementia, PARKINSONISM
Abstract: Funder: CIBERNED, Funder: Canadian Institutes of Health Research; doi: http://dx.doi.org/10.13039/501100000024, Funder: Lemaire Family Foundation, Funder: Swedish Frontotemporal Dementia Initiative, Funder: Italian Ministry of Health, Funder: Weston Brain Institute; doi: http://dx.doi.org/10.13039/100012479, Funder: Mady Browaaeys Fund, Funder: Miriam Marks Brain Research UK, Funder: Bluefield Project, OBJECTIVE: To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD). METHODS: Eight hundred and thirty-two participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 522 mutation carriers (with C9orf72, GRN and MAPT mutations) and 310 mutation-negative controls. A standardised clinical questionnaire was used to assess eight motor symptoms (dysarthria, dysphagia, tremor, slowness, weakness, gait disorder, falls and functional difficulties using hands). Frequency and severity of each motor symptom was assessed, and a principal component analysis (PCA) was performed to identify how the different motor symptoms loaded together. Finally, addition of a motor component to the CDR® plus NACC FTLD was investigated (CDR® plus NACC FTLD-M). RESULTS: 24.3% of mutation carriers had motor symptoms (31.7% C9orf72, 18.8% GRN, 19.3% MAPT) compared to 6.8% of controls. Slowness and gait disorder were the commonest in all genetic groups while tremor and falls were the least frequent. Symptom severity scores were similar to equivalent physical motor examination scores. PCA revealed that all motor symptoms loaded together so a single additional motor component was added to the CDR® plus NACC FTLD to form the CDR® plus NACC FTLD-M. Individual global scores were more severe with the CDR® plus NACC FTLD-M, and no patients with a clinically diagnosed motor disorder (ALS/FTD-ALS or parkinsonism) were classified anymore as asymptomatic (unlike the CDR® plus NACC FTLD alone). CONCLUSIONS: Motor features are present in mutation carriers at all disease stages across all three genetic groups. Inclusion of motor symptoms in a rating scale that can be used in future clinical trials will not only ensure a more accurate severity measure is recorded but that a wider spectrum of FTD phenotypes can be included in the same trial.
Published: 2022
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3. Aneurismal subarachnoid hemorrhage during the COVID-19 outbreak in a Hub and Spoke system: observational multicenter cohort study in Lombardy, Italy

Author: Fiorindi, A, Vezzoli, M, Doglietto, F, Zanin, L, Saraceno, G, Agosti, E, Barbieri, A, Bellocchi, S, Bernucci, C, Bongetta, D, Cardia, A, Costi, E, Egidi, M, Fioravanti, A, Gasparotti, R, Giussani, C, Grimod, G, Latronico, N, Locatelli, D, Mardighian, D, Nodari, G, Poli, J, Rasulo, F, Roca, E, Sicuri, G, Spena, G, Stefini, R, Vivaldi, O, Zoia, C, Calza, S, Fontanella, M, Cenzato, M, Fiorindi A., Vezzoli M., Doglietto F., Zanin L., Saraceno G., Agosti E., Barbieri A., Bellocchi S., Bernucci C., Bongetta D., Cardia A., Costi E., Egidi M., Fioravanti A., Gasparotti R., Giussani C., Grimod G., Latronico N., Locatelli D., Mardighian D., Nodari G., Poli J. C., Rasulo F., Roca E., Sicuri G. M., Spena G., Stefini R., Vivaldi O., Zoia C., Calza S., Fontanella M. M., Cenzato M., Fiorindi, A, Vezzoli, M, Doglietto, F, Zanin, L, Saraceno, G, Agosti, E, Barbieri, A, Bellocchi, S, Bernucci, C, Bongetta, D, Cardia, A, Costi, E, Egidi, M, Fioravanti, A, Gasparotti, R, Giussani, C, Grimod, G, Latronico, N, Locatelli, D, Mardighian, D, Nodari, G, Poli, J, Rasulo, F, Roca, E, Sicuri, G, Spena, G, Stefini, R, Vivaldi, O, Zoia, C, Calza, S, Fontanella, M, Cenzato, M, Fiorindi A., Vezzoli M., Doglietto F., Zanin L., Saraceno G., Agosti E., Barbieri A., Bellocchi S., Bernucci C., Bongetta D., Cardia A., Costi E., Egidi M., Fioravanti A., Gasparotti R., Giussani C., Grimod G., Latronico N., Locatelli D., Mardighian D., Nodari G., Poli J. C., Rasulo F., Roca E., Sicuri G. M., Spena G., Stefini R., Vivaldi O., Zoia C., Calza S., Fontanella M. M., and Cenzato M.
Abstract: Background: Lombardy was the most affected Italian region by the first phase of the COVID-19 pandemic and underwent urgent reorganization for the management of emergencies, including subarachnoid hemorrhage from a ruptured cerebral aneurysm (aSAH). The aim of the study was to define demographics, clinical, and therapeutic features of aSAH during the COVID-19 outbreak and compare these with a historical cohort. Methods: In this observational multicenter cohort study, patients aged 18 years or older, who were diagnosed with aSAH at the participating centers in Lombardy from March 9 to May 10, 2020, were included (COVID-19 group). In order to minimize bias related to possible SAH seasonality, the control group was composed of patients diagnosed with aSAH from March 9 to May 10 of the three previous years, 2017–2018-2019 (pre-pandemic group). Twenty-three demographic, clinical, and therapeutic features were collected. Statistical analysis was performed. Results: Seventy-two patients during the COVID-19 period and 179 in the control group were enrolled at 14 centers. Only 4 patients were positive for SARS-CoV-2. The “diagnostic delay” was significantly increased (+ 68%) in the COVID-19 group vs. pre-pandemic (1.06 vs. 0.63 days, respectively, p-value = 0.030), while “therapeutic delay” did not differ significantly between the two periods (0.89 vs. 0.74 days, p-value = 0.183). Patients with poor outcome (GOS at discharge from 1 to 3) were higher during the COVID-19 period (54.2%) compared to pre-pandemic (40.2%, p = 0.044). In logistic regression analysis, in which outcome was the dichotomized Glasgow Outcome Scale (GOS), five variables showed p-values < 0.05: age at admission, WFNS grade, treatment (none), days in ICU, and ischemia. Conclusions: We documented a significantly increased “diagnostic delay” for subarachnoid hemorrhages during the first COVID-19 outbreak in Lombardy. However, despite the dramatic situation that the healthcare system was expe
Published: 2022

4. Multimodal evaluation of carpal tunnel syndrome in a pre-symptomatic TTR mutation carrier

Author: Salvalaggio, A., primary, Cacciavillani, M., additional, Tiengo, C., additional, Cipriani, A., additional, Frizziero, L., additional, Fedrigo, M., additional, Rizzo, S., additional, Angelini, A., additional, Gasparotti, R., additional, and Briani, C., additional
Published: 2023
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5. Mechanical thrombectomy in patients with heart failure: the Italian registry of Endovascular Treatment in Acute Stroke

Author: Gentile, L, Pracucci, G, Saia, V, Falcou, A, Biraschi, F, Zini, A, Simonetti, L, Riva, L, Bigliardi, G, Vallone, S, Nencini, P, Limbucci, N, Diomedi, M, Da Ros, V, Longoni, M, Ruggiero, M, Tassinari, T, Allegretti, L, Cerrato, P, Rubino, E, Bergui, M, Cavallo, R, Naldi, A, Comelli, C, Cappellari, M, Zivelonghi, C, Plebani, M, De Vito, A, Merli, N, Saletti, A, Musolino, Rf, Ferraù, L, Vinci, Sl, Sacco, S, Orlandi, B, De Santis, F, Filauri, P, Ruiz, L, Sepe, Fn, Gallesio, I, Petruzzellis, M, Chiumarulo, L, Sangalli, D, Salmaggi, A, Filizzolo, M, Moller, J, Melis, M, Comelli, S, Magoni, M, Gilberti, N, Gasparotti, R, Invernizzi, P, Pavia, M, Pinto, V, Laspada, S, Marcheselli, S, Ajello, D, Viaro, F, Baracchini, C, Causin, F, Giannini, N, Caselli, Mc, Mancuso, M, Cosottini, M, Scoditti, U, Menozzi, R, Russo, M, Amistá, P, Napoletano, R, Romano, Dg, Tassi, R, Bracco, S, Carimati, F, Versino, M, Giorgianni, A, De Boni, A, Fasano, A, Barbarini, L, Paladini, A, Franchini, E, Dall'Ora, E, Comai, A, Giovanni, F, Pedicelli, A, Sallustio, F, Casetta, I, Fainardi, E, Mangiafico, S, and Toni, D
Subjects: Left ventricular ejection fraction, Acute ischemic stroke, Heart failure, Mechanical thrombectomy, Settore MED/37 - Neuroradiologia, Settore MED/26
Published: 2023

6. Multimodal evaluation of carpal tunnel syndrome in a pre-symptomatic TTR mutation carrier

Author: Salvalaggio, A., Cacciavillani, M., Tiengo, C., Cipriani, A., Frizziero, L., Fedrigo, M., Rizzo, S., Angelini, A., Gasparotti, R., and Briani, C.
Subjects: Hereditary Transthyrethin amyloidosis, Neurology, ATTRv, Ultrasonography, Carpal tunnel syndrome, Hereditary Transthyrethin amyloidosis, ATTRv, Nerve ultrasound, Neurology (clinical), Nerve ultrasound, cross-sectional-area, cross-sectional-area
Published: 2023

7. Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment

Author: Poli, L., Alberici, A., Buzzi, P., Marchina, E., Lanari, A., Arosio, C., Ciccone, A., Semeraro, F., Gasparotti, R., Padovani, A., and Borroni, Barbara
Published: 2017
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8. Subcortical matter in the α-synucleinopathies spectrum: an MRI pilot study

Author: Gazzina, S., Premi, E., Turrone, R., Acosta-Cabronero, J., Rizzetti, M. C., Cotelli, M. S., Gasparotti, R., Padovani, A., and Borroni, B.
Published: 2016
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9. A challenging diagnosis of reversible “vascular” dementia: Cerebral amyloid angiopathy-related inflammation

Author: Poli, L, De Giuli, V, Piazza, F, Volonghi, I, Bigliardi, G, Vallone, S, Nichelli, P, Gasparotti, R, Zini, A, Padovani, A, Pezzini, A, Poli L., De Giuli V., Piazza F., Volonghi I., Bigliardi G., Vallone S., Nichelli P. F., Gasparotti R., Zini A., Padovani A., Pezzini A., Poli, L, De Giuli, V, Piazza, F, Volonghi, I, Bigliardi, G, Vallone, S, Nichelli, P, Gasparotti, R, Zini, A, Padovani, A, Pezzini, A, Poli L., De Giuli V., Piazza F., Volonghi I., Bigliardi G., Vallone S., Nichelli P. F., Gasparotti R., Zini A., Padovani A., and Pezzini A.
Abstract: Cerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare and treatable variant of CAA likely due to an autoimmune response directed toward beta-amyloid deposits. Cognitive and behavioral manifestations are the most common symptoms, followed by focal neurological signs, headache and seizures, associated with characteristics neuroradiological features on brain magnetic resonance imaging (MRI). We describe the clinical course, radiological features and therapeutic approach of two patients with probable CAA-ri with the aim of emphasizing the importance of an early diagnosis of this potentially reversible disease in different neurological settings, such as memory clinics and stroke units.
Published: 2020

10. Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia

Author: Panman, J. L., Venkatraghavan, V., Van Der Ende, E. L., Steketee, R. M. E., Jiskoot, L. C., Poos, J. M., Dopper, E. G. P., Meeter, L. H. H., Kaat, L. D., Rombouts, S. A. R. B., Vernooij, M. W., Kievit, A. J. A., Premi, E., Cosseddu, M., Bonomi, E., Olives, J., Rohrer, J. D., Sanchez-Valle, R., Borroni, B., Bron, E. E., Van Swieten, J. C., Papma, J. M., Klein, S., Afonso, S., Almeida, M. R., Anderl-Straub, S., Andersson, C., Antonell, A., Archetti, S., Arighi, A., Balasa, M., Barandiaran, M., Bargallo, N., Bartha, R., Bender, B., Black, S., Butler, C., Bocchetta, M., Borrego-Ecija, S., Bras, J., Bruffaerts, R., Caroppo, P., Cash, D., Castelo-Branco, M., Convery, R., Cope, T., Danek, A., De Arriba, M., De Mendonca, A., Di Fede, G., Diaz, Z., Ducharme, S., Duro, D., Fenoglio, C., Ferreira, C. B., Finger, E., Flanagan, T., Fox, N., Freedman, M., Fumagalli, G., Gabilondo, A., Galimberti, D., Gasparotti, R., Gauthier, S., Gazzina, S., Gerhard, A., Giaccone, G., Gorostidi, A., Graff, C., Greaves, C., Guerreiro, R., Heller, C., Hoegen, T., Indakoetxea, B., Jelic, V., Karnath, H. -O., Keren, R., Laforce, R., Leitao, M. J., Levin, J., Llado, A., Loosli, S., Maruta, C., Masellis, M., Mead, S., Miltenberger, G., Van Minkelenm Sara Mitchell, R., Moore, K., Moreno, F., Nicholas, J., Oijerstedt, L., Otto, M., Ourselin, S., Padovani, A., Peakman, G., Pijnenburg, Y., Polito, C., Prioni, S., Prix, C., Rademakers, R., Redaelli, V., Rittman, T., Rogaeva, E., Rosa-Neto, P., Rossi, G., Rosser, M., Rowe, J., Santana, I., Santiago, B., Scarpini, E., Schonecker, S., Shafei, E. S. R., Shoesmith, C., Synofzik, M., Tabuas-Pereira, M., Tagliavini, F., Tartaglia, C., Tainta, M., Taipa, R., Tang-Wai, D., Thomas, D. L., Thonberg, H., Timberlake, C., Tiraboschi, P., Todd, E., Vandamme, P., Vandenberghe, R., Vandenbulcke, M., Veldsman, M., Verdelho, A., Villanua, J., Warren, J., Wilkeione, C., Elisabeth, W., Henrik, W., Zulaica, Z. M., Neurology, Physics and medical technology, Radiology & Nuclear Medicine, Clinical Genetics, and Medical Research Council
Subjects: Male, Oncology, Disease, Neuropsychological Tests, GENFI consortium investigators, Primary progressive aphasia, Cognition, Progranulins, 0302 clinical medicine, Neurofilament Proteins, BEHAVIORAL VARIANT, HETEROGENEITY, Gray Matter, 11 Medical and Health Sciences, Language, Psychiatry, 0303 health sciences, Brain, Middle Aged, Magnetic Resonance Imaging, White Matter, 17 Psychology and Cognitive Sciences, ALZHEIMERS-DISEASE, Psychiatry and Mental health, Phenotype, medicine.anatomical_structure, Frontotemporal Dementia, Disease Progression, Biomarker (medicine), Female, Life Sciences & Biomedicine, Frontotemporal dementia, medicine.medical_specialty, Clinical Neurology, EVENT-BASED MODEL, Grey matter, Lateralization of brain function, White matter, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, NEUROFILAMENT LIGHT-CHAIN, medicine, Humans, LOBAR DEGENERATION, PROGRANULIN, Aged, 030304 developmental biology, Science & Technology, Neurology & Neurosurgery, business.industry, DISEASE PROGRESSION, medicine.disease, Mutation, WHITE-MATTER INTEGRITY, Surgery, Neurosciences & Neurology, Neurology (clinical), business, GENFI, Biomarkers, 030217 neurology & neurosurgery, Progressive disease
Abstract: ObjectiveProgranulin-related frontotemporal dementia (FTD-GRN) is a fast progressive disease. Modelling the cascade of multimodal biomarker changes aids in understanding the aetiology of this disease and enables monitoring of individual mutation carriers. In this cross-sectional study, we estimated the temporal cascade of biomarker changes for FTD-GRN, in a data-driven way.MethodsWe included 56 presymptomatic and 35 symptomatic GRN mutation carriers, and 35 healthy non-carriers. Selected biomarkers were neurofilament light chain (NfL), grey matter volume, white matter microstructure and cognitive domains. We used discriminative event-based modelling to infer the cascade of biomarker changes in FTD-GRN and estimated individual disease severity through cross-validation. We derived the biomarker cascades in non-fluent variant primary progressive aphasia (nfvPPA) and behavioural variant FTD (bvFTD) to understand the differences between these phenotypes.ResultsLanguage functioning and NfL were the earliest abnormal biomarkers in FTD-GRN. White matter tracts were affected before grey matter volume, and the left hemisphere degenerated before the right. Based on individual disease severities, presymptomatic carriers could be delineated from symptomatic carriers with a sensitivity of 100% and specificity of 96.1%. The estimated disease severity strongly correlated with functional severity in nfvPPA, but not in bvFTD. In addition, the biomarker cascade in bvFTD showed more uncertainty than nfvPPA.ConclusionDegeneration of axons and language deficits are indicated to be the earliest biomarkers in FTD-GRN, with bvFTD being more heterogeneous in disease progression than nfvPPA. Our data-driven model could help identify presymptomatic GRN mutation carriers at risk of conversion to the clinical stage.
Published: 2021
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11. Preliminary Validation of FoRCaSco: A New Grading System for Cerebral and Cerebellar Cavernomas

Author: Fontanella, Marco Maria, Zanin, L., Panciani, P., Belotti, F., Doglietto, Francesco, Cremonesi, A., Migliorati, K., Roca, E., De Maria, L., Franzin, A., Vivaldi, O., Griva, F., Narducci, A., Draghi, R., Calbucci, F., Borghesi, I., Crobeddu, E., Cossandi, C., Fioravanti, A., Arias, J. A., Scerrati, A., De Bonis, P., Locatelli, D., Agosti, E., Veiceschi, P., Ceraudo, M., Zona, G., Gasparotti, R., Terzi di Bergamo, L., Rigamonti, D., Fontanella M. M., Doglietto F. (ORCID:0000-0002-7438-0734), Fontanella, Marco Maria, Zanin, L., Panciani, P., Belotti, F., Doglietto, Francesco, Cremonesi, A., Migliorati, K., Roca, E., De Maria, L., Franzin, A., Vivaldi, O., Griva, F., Narducci, A., Draghi, R., Calbucci, F., Borghesi, I., Crobeddu, E., Cossandi, C., Fioravanti, A., Arias, J. A., Scerrati, A., De Bonis, P., Locatelli, D., Agosti, E., Veiceschi, P., Ceraudo, M., Zona, G., Gasparotti, R., Terzi di Bergamo, L., Rigamonti, D., Fontanella M. M., and Doglietto F. (ORCID:0000-0002-7438-0734)
Abstract: Objective: Surgical indications for cerebral cavernous malformations (CCMs) remain significantly center- and surgeon-dependent; available grading systems are potentially limited, as they do not include epileptologic and radiologic data. Several experienced authors proposed a new grading system for CCM and the first group of patients capable of providing its statistical validation was analyzed. Methods: A retrospective series of 289 CCMs diagnosed between 2008 and 2021 was collected in a shared anonymous database among 9 centers. The new grading system ranges from –1 to 10. For each patient with cortical and cerebellar cavernous malformations the grading system was applied, and a retrospective outcome analysis was performed. We proposed a score of 4 as a cutoff for surgical indication. Results: Operated patients with a score ≥4 were grouped with non-operated patients with a score <4, as they constituted the group that received correct treatment according to the new grading system. Patients with a score ≥4, who underwent surgery and had an improved outcome, were compared to patients with a score ≥4 who were not operated (P = 0.04), and to patients with a score <4 who underwent surgery (P < 0.001). Conclusions: This preliminary statistical analysis demonstrated that this new grading would be applicable in surgical reality. The cutoff score of 4 correctly separated the patients who could benefit from surgical intervention from those who would not. The outcome analysis showed that the treated patients in whom the grading system has been correctly applied have a better outcome than those in whom the grading system has not been applied.
Published: 2022

12. Aneurismal subarachnoid hemorrhage during the COVID-19 outbreak in a Hub and Spoke system: observational multicenter cohort study in Lombardy, Italy

Author: Fiorindi, A., Vezzoli, M., Doglietto, Francesco, Zanin, L., Saraceno, G., Agosti, E., Barbieri, A., Bellocchi, S., Bernucci, C., Bongetta, D., Cardia, A., Costi, E., Egidi, M., Fioravanti, A., Gasparotti, R., Giussani, C., Grimod, G., Latronico, N., Locatelli, D., Mardighian, D., Nodari, G., Poli, J. C., Rasulo, F., Roca, E., Sicuri, G. M., Spena, G., Stefini, R., Vivaldi, O., Zoia, C., Calza, S., Fontanella, Marco Maria, Cenzato, M., Doglietto F. (ORCID:0000-0002-7438-0734), Fontanella M. M., Fiorindi, A., Vezzoli, M., Doglietto, Francesco, Zanin, L., Saraceno, G., Agosti, E., Barbieri, A., Bellocchi, S., Bernucci, C., Bongetta, D., Cardia, A., Costi, E., Egidi, M., Fioravanti, A., Gasparotti, R., Giussani, C., Grimod, G., Latronico, N., Locatelli, D., Mardighian, D., Nodari, G., Poli, J. C., Rasulo, F., Roca, E., Sicuri, G. M., Spena, G., Stefini, R., Vivaldi, O., Zoia, C., Calza, S., Fontanella, Marco Maria, Cenzato, M., Doglietto F. (ORCID:0000-0002-7438-0734), and Fontanella M. M.
Abstract: Background: Lombardy was the most affected Italian region by the first phase of the COVID-19 pandemic and underwent urgent reorganization for the management of emergencies, including subarachnoid hemorrhage from a ruptured cerebral aneurysm (aSAH). The aim of the study was to define demographics, clinical, and therapeutic features of aSAH during the COVID-19 outbreak and compare these with a historical cohort. Methods: In this observational multicenter cohort study, patients aged 18 years or older, who were diagnosed with aSAH at the participating centers in Lombardy from March 9 to May 10, 2020, were included (COVID-19 group). In order to minimize bias related to possible SAH seasonality, the control group was composed of patients diagnosed with aSAH from March 9 to May 10 of the three previous years, 2017–2018-2019 (pre-pandemic group). Twenty-three demographic, clinical, and therapeutic features were collected. Statistical analysis was performed. Results: Seventy-two patients during the COVID-19 period and 179 in the control group were enrolled at 14 centers. Only 4 patients were positive for SARS-CoV-2. The “diagnostic delay” was significantly increased (+ 68%) in the COVID-19 group vs. pre-pandemic (1.06 vs. 0.63 days, respectively, p-value = 0.030), while “therapeutic delay” did not differ significantly between the two periods (0.89 vs. 0.74 days, p-value = 0.183). Patients with poor outcome (GOS at discharge from 1 to 3) were higher during the COVID-19 period (54.2%) compared to pre-pandemic (40.2%, p = 0.044). In logistic regression analysis, in which outcome was the dichotomized Glasgow Outcome Scale (GOS), five variables showed p-values < 0.05: age at admission, WFNS grade, treatment (none), days in ICU, and ischemia. Conclusions: We documented a significantly increased “diagnostic delay” for subarachnoid hemorrhages during the first COVID-19 outbreak in Lombardy. However, despite the dramatic situation that the healthcare system was expe
Published: 2022

13. 200P Increase of vertebral fractures in patients with metastatic breast cancer treated with endocrine therapy combined with CDK 4/6 inhibitor

Author: Lorini, L., primary, Conforti, E., additional, Frigerio, M., additional, Laini, L., additional, Amoroso, V., additional, Alberti, A., additional, Schivardi, G., additional, Di Mauro, P., additional, Cosentini, D., additional, Vassalli, L., additional, Cremaschi, V., additional, Esposito, A., additional, Simoncini, E.L., additional, Gasparotti, R., additional, Berruti, A., additional, and Pedersini, R., additional
Published: 2022
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14. Carotid artery stenting during endovascular thrombectomy for acute ischemic stroke with tandem occlusion: the Italian Registry of Endovascular Treatment in Acute Stroke

Author: Sallustio, Fabrizio, Pracucci, Giovanni, Cappellari, Manuel, Saia, Valentina, Mascolo, Alfredo Paolo, Marrama, Federico, Gandini, Roberto, Koch, Giacomo, Diomedi, Marina, D’Agostino, Federica, Rocco, Alessandro, Da Ros, Valerio, Wlderk, Andrea, Nezzo, Marco, Argirò, Renato, Morosetti, Daniele, Renieri, Leonardo, Nencini, Patrizia, Vallone, Stefano, Zini, Andrea, Bigliardi, Guido, Pitrone, Antonio, Grillo, Francesco, Bracco, Sandra, Tassi, Rossana, Bergui, Mauro, Naldi, Andrea, Carità, Giuseppe, Casetta, Ilaria, Gasparotti, Roberto, Magoni, Mauro, Simonetti, Luigi, Haznedari, Nicolò, Paolucci, Matteo, Mavilio, Nicola, Malfatto, Laura, Menozzi, Roberto, Genovese, Antonio, Cosottini, Mirco, Orlandi, Giovanni, Comai, Alessio, Franchini, Enrica, Pedicelli, Alessandro, Frisullo, Giovanni, Puglielli, Edoardo, Casalena, Alfonsina, Cester, Giacomo, Baracchini, Claudio, Castellano, Davide, Di Liberto, Alessandra, Ricciardi, Giuseppe Kenneth, Chiumarulo, Luigi, Petruzzellis, Marco, Lafe, Elvis, Persico, Alessandra, Cavasin, Nicola, Critelli, Adriana, Semeraro, Vittorio, Tinelli, Angelica, Giorgianni, Andrea, Carimati, Federico, Auteri, William, Rizzuto, Stefano, Biraschi, Francesco, Nicolini, Ettore, Ferrari, Antonio, Melis, Maurizio, Calia, Stefano, Tassinari, Tiziana, Nuzzi, Nunzio Paolo, Corato, Manuel, Sacco, Simona, Squassina, Guido, Invernizzi, Paolo, Gallesio, Ivan, Ruiz, Luigi, Dui, Giovanni, Carboni, Nicola, Amistà, Pietro, Russo, Monia, Maiore, Mario, Zanda, Bastianina, Craparo, Giuseppe, Mannino, Marina, Inzitari, Domenico, Toni, Danilo, Mangiafico, Salvatore, Gasparotti, R., Inzitari, D., Mangiafico, S., Toni, D., Vallone, S., Zini, A., Bergui, M., Causin, F., Ciccone, A., Nencini, P., Saletti, A., Sallustio, F., Tassi, R., Thyrion, F. Zappoli, Pracucci, G., Saia, V., Gandini, R., Da Ros, V., Greco, L., Morosetti, D., Diomedi, M., Nappini, S., Limbucci, N., Renieri, L., Fainardi, E., Verganti, L., Sacchetti, F., Zelent, G., Bigliardi, G., Dell’Acqua, M. L., Picchetto, L., Vandelli, L., Pentore, R., Maffei, S., Nichelli, P., Longo, M., Pitrone, A., Vinci, S. L., Velo, M., Caragliano, A., Tessitore, A., Bonomo, O., Musolino, R., La Spina, P., Casella, C., Fazio, M. C., Grillo, F., Cotroneo, M., Dell’Aera, C., Francalanza, I., Bracco, S., Cioni, S., Gennari, P., Vallone, I. M., Cerase, A., Martini, G., Stura, G., Daniele, D., Cerrato, P., Naldi, A., Onofrio, M., De Vito, A., Azzini, C., Casetta, I., Mardighian, D., Frigerio, M., Magoni, M., Costa, A., Simonetti, L., Cirillo, L., Taglialatela, F., Isceri, S., Princiotta, C., Dall’Olio, M., Cellerini, M., Gentile, M., Piccolo, L., Migliaccio, L., Brancaleoni, L., Naldi, F., Romoli, M., Zaniboni, A., Ruggiero, M., Sanna, A., Haznedari, N., Commodaro, C., Longoni, M., Biguzzi, S., Cordici, F., Malatesta, E., Castellan, L., Mavilio, N., Salsano, G., Malfatto, L., Finocchi, C., Menozzi, R., Piazza, P., Epifani, E., Andreone, A., Scoditti, U., Castellini, P., Latte, L., Grisendi, I., Cosottini, M., Puglioli, M., Lazzarotti, G., Lauretti, D., Mancuso, M., Giannini, N., Maccarone, M., Orlandi, G., Comai, A., Bonatti, G., Nano, G., Ferro, F., Bonatti, M., Dall’Ora, E., Dossi, R. Currò, Turri, E., Turri, M., Colosimo, C., Pedicelli, A., D’Argento, F., Alexandre, A., Frisullo, G., Di Egidio, V., Puglielli, E. G., Ruggero, L., Assetta, M., Casalena, A., Cester, G., Baracchini, C., Viaro, F., Pieroni, A., Vaudano, G., Comelli, C., Di Maggio, L., Castellano, D., Cavallo, R., Duc, E., Chianale, G., Ciceri, E. F. M., Plebani, M., Augelli, R., Zampieri, P., Grazioli, A., Cappellari, M., Forlivesi, S., Tomelleri, G., Micheletti, N., Chiumarulo, L., Zimatore, D. S., Federico, F., Petruzzelli, M., Zappoli, F., Lafe, E., Sanfilippo, G., Sgreccia, A., Martignoni, A., Cavallini, A., Denaro, F., Persico, A., Cagliari, E., Cavasin, N., Quatrale, R., Critelli, A., Burdi, N., Semeraro, V., Lucarelli, N., Ganimede, M. P., Internò, S., Tinelli, A., Prontera, M. P., Pesare, A., Cotroneo, E., Pampana, E., Ricciardi, F., Gigli, R., Pezzella, F. R., Corsi, F., Giorgianni, A., Baruzzi, F., Pellegrino, C., Terrana, A., Versino, M., Delodovici, M. L., Carimati, F., Cariddi, L. Princiotta, Auteri, W., Di Benedetto, O., Silvagni, U., Perrotta, P., Crispino, E., Petrone, A., Stancati, F., Rizzuto, S., Pugliese, P., Pisani, E., Siniscalchi, A., Gaudiano, C., Pirritano, D., Del Giudice, F., Piano, M., Agostoni, E., Motto, C., Gatti, A., Guccione, A., Tortorella, R., Stecco, A., Guzzardi, G., Del Sette, B., Coppo, L., Baldan, J., Romano, D., Siani, A., Locatelli, G., Saponiero, R., Napolitano, R., De Gregorio, M., Volpe, G., Tenuta, M., Guidetti, G., Biraschi, F., Wulbek, A., Falcou, A., Anzini, A., Mancini, A., De Michele, M., Fausti, S., Di Mascio, M. T., Durastanti, L., Sbardella, E., Mellina, V., Nicolini, E., Comelli, S., Ganau, C., Corraine, S., Fusaro, F., Ferrari, A., Schirru, F., Ledda, V., Secci, S., Melis, M., Piras, V., Moller, J., Padolecchia, R., Allegretti, L., Caldiera, V., Calia, S., Ganci, G., Tassinari, T., Sugo, A., De Nicola, M., Giannoni, M., Bruni, S., Gambelli, E., Provinciali, L., Nuzzi, N. P., Marcheselli, S., Corato, M., Scomazzoni, F., Simionato, F., Roveri, L., Filauri, P., Sacco, S., Orlandi, B., De Santis, F., Tiseo, C., Notturno, F., Ornello, R., Pavia, M., Squassina, G., Cobelli, M., Morassi, M., Magni, E., Invernizzi, P., Pepe, F., Bigni, B., Costa, P., Crabbio, M., Griffini, S., Palmerini, F., Piras, M. P., Gallesio, I., Barbero, S., Ferrandi, D., Dui, G., Fancello, M. C., Zedda, S., Ticca, A., Saddi, M. V., Deiana, G., Rossi, R., Carboni, N., Mela, A., Amistà, P., Russo, M., Iannucci, G., Pinna, V., Di Clemente, L., Santi, M., De Boni, A., De Luca, C., Natrella, M., Fanelli, G., Cristoferi, M., Bottacchi, E., Corso, G., Tosi, P., Sessa, M., Giossi, A., Baietti, Null, Romano, G., Meineri, P., Armentano, A., Versace, P., Arcudi, L., Galvano, G., Petralia, B., Feraco, P., Luppi, G., Giometto, B., Bignamini, V., Piffer, S., Meloni, G. B., Fabio, C., Maiore, M., Pintus, F., Pischedda, A., Manca, A., Mongili, C., Zanda, B., Baule, A., Florio, F., Ciccarese, G., Leone, M., Di Viesti, P., Pappalardo, M. P., Craparo, G., Gallo, C., Monaco, S., Mannino, M., Muto, M., Guarnieri, Gl., Andreone, V., Passalacqua, G., Allegritti, M., Caproni, S., Filizzolo, M., Salmaggi, A., Giordano, A., Marini, C., Frattale, I., Lucente, G., Nozzoli, C., and Lupo, F. A.
Subjects: Stent, Acute stroke, Settore MED/37 - Neuroradiologia, Acute stroke Internal carotid artery diseases Stent Thrombectomy, Neurology (clinical), General Medicine, Settore MED/26, Internal carotid artery diseases, Thrombectomy
Abstract: The management of tandem extracranial internal carotid artery and intracranial large vessel occlusion during endovascular thrombectomy (EVT) for acute ischemic stroke (AIS) has been under-investigated. We sought to investigate outcomes of AIS patients with tandem occlusion (TO) treated with carotid artery stenting (CAS) compared to those not treated with CAS (no-CAS) during EVT.We performed a cohort study using data from AIS patients enrolled in the Italian Registry of Endovascular Treatment in Acute Stroke. Outcomes were 3 months' mortality, functional outcome, complete and successful recanalization, any intracranial hemorrhage, parenchymal hematoma and symptomatic intracerebral hemorrhage.Among 466 AIS patients with TO, CAS patients were 122 and no-CAS patients were 226 (118 excluded). After adjustment for unbalanced variables, CAS was associated with a lower rate of 3 months' mortality (OR 0.407, 95% CI 0.171-0.969, p = 0.042). After adjustment for pre-defined variables, CAS was associated with a lower rate of 3 months' mortality (aOR 0.430, 95% CI 0.187-0.989, p = 0.047) and a higher rate of complete recanalization (aOR 1.986, 95% CI 1.121-3.518, p = 0.019), successful recanalization (aOR 2.433, 95% CI 1.263-4.686, p = 0.008) and parenchymal hematoma (aOR 2.876, 95% CI 1.173-7.050, p = 0.021). CAS was associated with lower 3 months mortality (OR 0.373, 95% CI 0.141-0.982, p = 0.046) and higher rates of successful recanalization (OR 2.082, 95% CI 1.099-3.942, p = 0.024) after adjustment for variables associated with 3 months' mortality and successful recanalization, respectively.Among AIS patients with TO, CAS during EVT was associated with a higher rate of successful reperfusion and a lower rate of 3 months' mortality.
Published: 2022

15. The brain in late-onset glycogenosis II: a structural and functional MRI study

Author: Borroni, Barbara, Cotelli, M. S., Premi, E., Gazzina, S., Cosseddu, M., Formenti, A., Gasparotti, R., Filosto, M., and Padovani, A.
Published: 2013
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16. Disease-related cortical thinning in presymptomatic granulin mutation carriers

Author: Borrego-Écija, S. (Sergi), Sala-Llonch, R. (Roser), Swieten, J.C. (John) van, Borroni, B. (Barbara), Moreno, F. (Fermin), Masellis, M. (Mario), Tartaglia, C. (Carmela), Graff, C. (Caroline), Galimberti, D. (Daniela), Laforce, R. (Robert), Rowe, J.B. (James), Finger, E. (Elizabeth), Vandenberghe, R. (Rik), Tagliavini, F. (Fabrizio), De Mendonça, A. (Alexandre), Santana, I. (Isabel), Synofzik, M. (Matthis), Ducharme, S. (Simon), Levin, J. (Johannes), Danek, A. (Adrian), Gerhard, A. (Alex), Otto, M. (Markus), Butler, C. (Chris), Frisoni, G.B. (Giovanni B.), Sorbi, S. (Sandro), Heller, C. (Carolin), Bocchetta, M. (Martina), Cash, D.M. (David M), Convery, R.S. (Rhian S), Moore, K.M. (Katrina M), Rohrer, J.D. (Jonathan), Sánchez-Valle, R. (Raquel), Rossor, M.N. (Martin N.), Fox, N.C. (Nick), Woollacott, I.O.C. (Ione O.C.), Shafei, R. (Rachelle), Greaves, C. (Caroline), Neason, M. (Mollie), Guerreiro, R. (Rita), Bras, J. (Jose), Thomas, D.L. (David L), Nicholas, J. (Jennifer), Mead, S. (Simon), Meeter, L.H.H. (Lieke), Panman, J.L. (Jessica), Papma, J.M. (Janne), Thornton, A.S. (Andrew), Pijnenburg, Y.A.L. (Yolande), Indakoetxea, B. (Begoña), Gabilondo, A. (Alazne), TaintaMD, M. (Mikel), de Arriba, M. (Maria), Gorostidi, A. (Ana), Zulaica, M. (Miren), Villanua, J. (Jorge), Diaz, Z. (Zigor), Olives, J. (Jaume), Lladó, A. (Albert), Balasa, M. (Mircea), Antonell, A. (Anna), Bargallo, N. (Nuria), Premi, E. (Enrico), Cosseddu, M. (Maura), Gazzina, S. (Stefano), Padovani, A. (Alessandro), Gasparotti, R. (Roberto), Archetti, S. (Silvana), Black, S. (Sandra), Mitchell, S. (Sara), Rogaeva, E. (Ekaterina), Freedman, M. (Morris), Keren, R. (Ron), Tang-Wai, D. (David), Öijerstedt, L. (Linn), Andersson, C. (Christin), Jelic, S. (Svetislav Svetislav), Thonberg, H. (Håkan), Arighi, A. (Andrea), Fenoglio, C. (Chiara), Scarpini MD, E. (Elio), Fumagalli, G. (Giorgio), Cope, T. (Thomas), Timberlake, C. (Carolyn), Rittman, T. (Timothy), Shoesmith, C. (Christen), Bartha, R. (Robart), Rademakers, S. (Suzanne), Wilke, C. (Carlo), Bender, B. (Benjamin), Bruffaerts, R. (Rose), Vandamme, P. (Philip), Vandenbulcke, M. (Mathieu), Maruta, C. (Carolina), Ferreira, C.B. (Catarina B.), Miltenberger, G. (Gabriel), Verdelho, A. (Ana), Afonso, S. (Sónia), Taipa, R. (Ricardo), Caroppo, P. (Paola), Di Fede, G. (Giuseppe), Giaccone, G. (Giorgio), Prioni, S. (Sara), Redaelli, V. (Veronica), Rossi, G. (Giacomina), Tiraboschi, P. (Pietro), Duro, D. (Diana), Rosario Almeida, M. (Maria), Castelo-Branco, M. (Miguel), João Leitão, M. (Maria), Tabuas-Pereira, M. (Miguel), Santiago, B. (Beatriz), Gauthier, S. (Serge), Rosa-Neto, P. (Pedro), Veldsman, M. (Michele), Flanagan, T. (Toby), Prix, C. (Catharina), Hoegen, T. (Tobias), Wlasich, E. (Elisabeth), Loosli, S. (Sandra), Schonecker, S. (Sonja), Semler, E. (Elisa), Anderl-Straub, S. (Sarah), Borrego-Écija, S. (Sergi), Sala-Llonch, R. (Roser), Swieten, J.C. (John) van, Borroni, B. (Barbara), Moreno, F. (Fermin), Masellis, M. (Mario), Tartaglia, C. (Carmela), Graff, C. (Caroline), Galimberti, D. (Daniela), Laforce, R. (Robert), Rowe, J.B. (James), Finger, E. (Elizabeth), Vandenberghe, R. (Rik), Tagliavini, F. (Fabrizio), De Mendonça, A. (Alexandre), Santana, I. (Isabel), Synofzik, M. (Matthis), Ducharme, S. (Simon), Levin, J. (Johannes), Danek, A. (Adrian), Gerhard, A. (Alex), Otto, M. (Markus), Butler, C. (Chris), Frisoni, G.B. (Giovanni B.), Sorbi, S. (Sandro), Heller, C. (Carolin), Bocchetta, M. (Martina), Cash, D.M. (David M), Convery, R.S. (Rhian S), Moore, K.M. (Katrina M), Rohrer, J.D. (Jonathan), Sánchez-Valle, R. (Raquel), Rossor, M.N. (Martin N.), Fox, N.C. (Nick), Woollacott, I.O.C. (Ione O.C.), Shafei, R. (Rachelle), Greaves, C. (Caroline), Neason, M. (Mollie), Guerreiro, R. (Rita), Bras, J. (Jose), Thomas, D.L. (David L), Nicholas, J. (Jennifer), Mead, S. (Simon), Meeter, L.H.H. (Lieke), Panman, J.L. (Jessica), Papma, J.M. (Janne), Thornton, A.S. (Andrew), Pijnenburg, Y.A.L. (Yolande), Indakoetxea, B. (Begoña), Gabilondo, A. (Alazne), TaintaMD, M. (Mikel), de Arriba, M. (Maria), Gorostidi, A. (Ana), Zulaica, M. (Miren), Villanua, J. (Jorge), Diaz, Z. (Zigor), Olives, J. (Jaume), Lladó, A. (Albert), Balasa, M. (Mircea), Antonell, A. (Anna), Bargallo, N. (Nuria), Premi, E. (Enrico), Cosseddu, M. (Maura), Gazzina, S. (Stefano), Padovani, A. (Alessandro), Gasparotti, R. (Roberto), Archetti, S. (Silvana), Black, S. (Sandra), Mitchell, S. (Sara), Rogaeva, E. (Ekaterina), Freedman, M. (Morris), Keren, R. (Ron), Tang-Wai, D. (David), Öijerstedt, L. (Linn), Andersson, C. (Christin), Jelic, S. (Svetislav Svetislav), Thonberg, H. (Håkan), Arighi, A. (Andrea), Fenoglio, C. (Chiara), Scarpini MD, E. (Elio), Fumagalli, G. (Giorgio), Cope, T. (Thomas), Timberlake, C. (Carolyn), Rittman, T. (Timothy), Shoesmith, C. (Christen), Bartha, R. (Robart), Rademakers, S. (Suzanne), Wilke, C. (Carlo), Bender, B. (Benjamin), Bruffaerts, R. (Rose), Vandamme, P. (Philip), Vandenbulcke, M. (Mathieu), Maruta, C. (Carolina), Ferreira, C.B. (Catarina B.), Miltenberger, G. (Gabriel), Verdelho, A. (Ana), Afonso, S. (Sónia), Taipa, R. (Ricardo), Caroppo, P. (Paola), Di Fede, G. (Giuseppe), Giaccone, G. (Giorgio), Prioni, S. (Sara), Redaelli, V. (Veronica), Rossi, G. (Giacomina), Tiraboschi, P. (Pietro), Duro, D. (Diana), Rosario Almeida, M. (Maria), Castelo-Branco, M. (Miguel), João Leitão, M. (Maria), Tabuas-Pereira, M. (Miguel), Santiago, B. (Beatriz), Gauthier, S. (Serge), Rosa-Neto, P. (Pedro), Veldsman, M. (Michele), Flanagan, T. (Toby), Prix, C. (Catharina), Hoegen, T. (Tobias), Wlasich, E. (Elisabeth), Loosli, S. (Sandra), Schonecker, S. (Sonja), Semler, E. (Elisa), and Anderl-Straub, S. (Sarah)
Abstract: Mutations in the granulin gene (GRN) cause familial frontotemporal dementia. Understanding the structural brain changes in presymptomatic GRN carriers would enforce the use of neuroimaging biomarkers for early diagnosis and monitoring. We studied 100 presymptomatic GRN mutation carriers and 94 noncarriers from the Genetic Frontotemporal dementia initiative (GENFI), with MRI structural images. We analyzed 3T MRI structural images using the FreeSurfer pipeline to calculate the whole brain cortical thickness (CTh) for each subject. We also perform a vertex-wise general linear model to assess differences between groups in the relationship between CTh and diverse covariables as gender, age, the estimated years to onset and education. We also explored differences according to TMEM106B genotype, a possible disease modifier. Whole brain CTh did not differ between carriers and noncarriers. Both groups showed age-related cortical thinning. The group-by-age interaction analysis showed that this age-related cortical thinning was significantly greater in GRN carriers in the left superior frontal cortex. TMEM106B did not significantly influence the age-related cortical thinning. Our results validate and expand previous findings suggesting an
Published: 2021
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17. Clinical Presentation and Outcomes of Severe Acute Respiratory Syndrome Coronavirus 2-Related Encephalitis: The ENCOVID Multicenter Study

Author: Pilotto, A., Masciocchi, Sofia, Volonghi, I., Crabbio, M., Magni, Eugenio, De Giuli, V., Caprioli, Francesca, Rifino, N., Sessa, M., Gennuso, M., Cotelli, M. S., Turla, Mario, Balducci, U., Mariotto, S., Ferrari, S., Ciccone, A., Fiacco, F., Imarisio, A., Risi, B., Benussi, A., Premi, E., Foca, E., Caccuri, F., Leonardi, M., Gasparotti, Roberto, Castelli, F., Zanusso, G., Pezzini, A., Padovani, A., Del Zotto, E., Guindani, M., Poli, L., Gipponi, S., Filosto, M., Gamba, M., Caratozzolo, S., Cristillo, V., Libri, I., Cola, F. S. D., Piccinelli, S. C., Cortinovis, M., Scalvini, A., Baldelli, E., Locatelli, M., Benini, M., Gazzina, S., Chiari, E., Odolini, S., Caruso, A., Ambrosi, C., Pinelli, L., Gerevini, S., Ciceri, E. F. M., Ferraro, B., Volta, G. D., Masciocchi S. (ORCID:0000-0001-7714-0122), Magni E. (ORCID:0000-0002-2235-2280), Caprioli F., Turla M., Gasparotti R., Pilotto, A., Masciocchi, Sofia, Volonghi, I., Crabbio, M., Magni, Eugenio, De Giuli, V., Caprioli, Francesca, Rifino, N., Sessa, M., Gennuso, M., Cotelli, M. S., Turla, Mario, Balducci, U., Mariotto, S., Ferrari, S., Ciccone, A., Fiacco, F., Imarisio, A., Risi, B., Benussi, A., Premi, E., Foca, E., Caccuri, F., Leonardi, M., Gasparotti, Roberto, Castelli, F., Zanusso, G., Pezzini, A., Padovani, A., Del Zotto, E., Guindani, M., Poli, L., Gipponi, S., Filosto, M., Gamba, M., Caratozzolo, S., Cristillo, V., Libri, I., Cola, F. S. D., Piccinelli, S. C., Cortinovis, M., Scalvini, A., Baldelli, E., Locatelli, M., Benini, M., Gazzina, S., Chiari, E., Odolini, S., Caruso, A., Ambrosi, C., Pinelli, L., Gerevini, S., Ciceri, E. F. M., Ferraro, B., Volta, G. D., Masciocchi S. (ORCID:0000-0001-7714-0122), Magni E. (ORCID:0000-0002-2235-2280), Caprioli F., Turla M., and Gasparotti R.
Abstract: Background: Several preclinical and clinical investigations have argued for nervous system involvement in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Some sparse case reports have described various forms of encephalitis in coronavirus disease 2019 (COVID-19) disease, but very few data have focused on clinical presentations, clinical course, response to treatment, and outcomes. Methods: The SARS-CoV-2 related encephalopaties (ENCOVID) multicenter study included patients with encephalitis with full infectious screening, cerebrospinal fluid (CSF), electroencephalography (EEG), and magnetic resonance imaging (MRI) data and confirmed SARS-CoV-2 infection recruited from 13 centers in northern Italy. Clinical presentation and laboratory markers, severity of COVID-19 disease, response to treatment, and outcomes were recorded. Results: Twenty-five cases of encephalitis positive for SARS-CoV-2 infection were included. CSF showed hyperproteinorrachia and/or pleocytosis in 68% of cases whereas SARS-CoV-2 RNA by reverse-transcription polymerase chain reaction resulted negative. Based on MRI, cases were classified as acute demyelinating encephalomyelitis (ADEM; n = 3), limbic encephalitis (LE; n = 2), encephalitis with normal imaging (n = 13), and encephalitis with MRI alterations (n = 7). ADEM and LE cases showed a delayed onset compared to the other encephalitis cases (P = .001) and were associated with previous, more severe COVID-19 respiratory involvement. Patients with MRI alterations exhibited worse response to treatment and final outcomes compared to those with other encephalitis. Conclusions: SARS-CoV-2 infection is associated with a wide spectrum of encephalitis characterized by different clinical presentation, response to treatment, and outcomes.
Published: 2021

18. An international call for a new grading system for cerebral and cerebellar cavernomas

Author: Fontanella, Marco Maria, Bacigaluppi, S., Doglietto, Francesco, Zanin, L., Agosti, E., Panciani, P., Belotti, F., Saraceno, G., Spena, G., Draghi, R., Fiorindi, A., Cornali, C., Biroli, A., Kivelev, J., Chiesa, M., Retta, S. F., Gasparotti, R., Kato, Y., Hernesniemi, J., Rigamonti, D., Fontanella M. M., Doglietto F. (ORCID:0000-0002-7438-0734), Fontanella, Marco Maria, Bacigaluppi, S., Doglietto, Francesco, Zanin, L., Agosti, E., Panciani, P., Belotti, F., Saraceno, G., Spena, G., Draghi, R., Fiorindi, A., Cornali, C., Biroli, A., Kivelev, J., Chiesa, M., Retta, S. F., Gasparotti, R., Kato, Y., Hernesniemi, J., Rigamonti, D., Fontanella M. M., and Doglietto F. (ORCID:0000-0002-7438-0734)
Abstract: Surgical indications for cerebral cavernous malformations remain significantly center- and surgeon-dependent. Available grading systems are potentially limited, as they do not include epileptological and radiological data. A novel grading system is proposed for supratentorial and cerebellar cavernomas: it considers neuroradiological features (bleeding, increase in size), neurological status (focal deficits and seizures), location of the lesion and age of the patient. The score ranges from -1 to 10; furthermore, surgery should be considered when a score of 4 or higher is present. Based on neuroradiological characteristics, 0 points are assigned if the CCM is stable in size at different neuroradiological controls, 1 point if there is an increase in volume during follow-up, 2 points if intra- or extra-lesional bleeding <1 cm is present and 3 points if the CCM produced a hematoma >1 cm. Regarding focal neurological deficits, 0 points are assigned if absent and 2 points if present. For seizures, 0 points are assigned if absent, 1 point if present, but controlled by medications, and 2 points if drug resistant. We considered the site of the CCM, and in case of deep-seated lesions in a critical area (basal ganglia, thalamus) 1 point (-1) is subtracted, while for subcortical or deep cerebellar lesions 0 points are assigned, for CCMs in a cortical critical area 1 point is assigned and in case of lesions in cortical not in critical area or superficial cerebellar area, 2 points are assigned. As far as age is concerned, 0 points are assigned for patients older than 50 years and 1 point for patients younger than 50. In conclusion, a novel grading for surgical decision making in cerebral cavernomas, based on the experience of selected neurosurgeons, basic scientists, and patients, is suggested with the aim of further improving and standardizing the treatment of CCMs. The aim of this paper was also to call for both retrospective and prospective multicenter studies with the ai
Published: 2021

19. Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort

Author: Convery, Rhian S, Bocchetta, Martina, Masellis, Mario, Afonso, S., Taipa, R., Caroppo, P., Di Fede, G., Giaccone, G., Prioni, S., Redaelli, V., Rossi, G., Tiraboschi, P., Duro, D., Tartaglia, Maria Carmela, Almeida, M. R., Branco, M. C., Leitão, M. J., Tabuas-Pereira, M., Santiago, B., Gauthier, S., Rosa-Neto, P., Veldsman, M., Flanagan, T., Prix, C., Graff, Caroline, Hoegen, T., Wlasich, E., Loosli, S., Schonecker, S., Semler, E., Anderl-Straub, S., Galimberti, Daniela, Rowe, James B, Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonca, Alexandre, Tagliavini, Fabrizio, Greaves, Caroline V, Santana, Isabel, Ducharme, Simon, Butler, Christopher, Gerhard, Alex, Levin, Johannes, Danek, Adrian, Otto, Markus, Warren, Jason D, Rohrer, Jonathan D, Initiative, Genetic FTD, Moore, Katrina M, Rossor, M. N., Fox, N. C., Woollacott, I. O. C., Shafei, R., Heller, C., Peakman, G., Swift, I., Todd, E., Guerreiro, R., Bras, J., Cash, David M, Thomas, D. L., Nicholas, J., Mead, S., Jiskoot, L., Meeter, L., Panman, J., Papma, J., van Minkelen, R., Pijnenburg, Y., Barandiara, M., Van Swieten, John, Indakoetxea, B., Gabilondo, A., Tainta, M., de Arriba, M., Gorostidi, A., Zulaica, M., Villanua, J., Diaz, Z., Borrego-Ecija, S., Olives, J., Moreno, Fermin, Lladó, A., Balasa, M., Antonell, A., Bargallo, N., Premi, E., Cosseddu, M., Gazzina, S., Padovani, A., Gasparotti, R., Archetti, S., Sánchez-Valle, Raquel, Black, S., Mitchell, S., Rogaeva, E., Freedman, M., Keren, R., Tang-Wai, D., Öijerstedt, L., Andersson, C., Jelic, V., Thonberg, H., Borroni, Barbara, Arighi, A., Fenoglio, C., Scarpini, E., Fumagalli, G., Cope, T., Timberlake, C., Rittman, T., Shoesmith, C., Bartha, R., Rademakers, R., Laforce, Robert, Wilke, C., Karnarth, H-O, Bender, B., Bruffaerts, R., Vandamme, P., Vandenbulcke, M., Ferreira, C. B., Miltenberger, G., Maruta, C., Verdelho, A., Convery, Rhian S [0000-0002-9477-1812], Bocchetta, Martina [0000-0003-1814-5024], Greaves, Caroline V [0000-0002-6446-1960], Moore, Katrina M [0000-0002-4458-8390], Van Swieten, John [0000-0001-6278-6844], Borroni, Barbara [0000-0001-9340-9814], Rowe, James B [0000-0001-7216-8679], Finger, Elizabeth [0000-0003-4461-7427], Otto, Markus [0000-0002-6647-5944], Rohrer, Jonathan D [0000-0002-6155-8417], Apollo - University of Cambridge Repository, Neurology, and Repositório da Universidade de Lisboa
Subjects: Male, diagnostic imaging [Corpus Striatum], Medizin, Somatosensory system, physiopathology [Frontotemporal Dementia], frontotemporal dementia, Cohort Studies, genetics [Progranulins], 0302 clinical medicine, Progranulins, Thalamus, C9orf72, Cerebellum, diagnostic imaging [Cerebral Cortex], pathology [Cerebellum], Medicine, pain, genetics [Frontotemporal Dementia], Cerebral Cortex, 0303 health sciences, DNA Repeat Expansion, Pain Perception, Middle Aged, Magnetic Resonance Imaging, Temporal Lobe, Psychiatry and Mental health, Cohort, diagnostic imaging [Prefrontal Cortex], Female, Frontotemporal dementia, genetics [Atrophy], Adult, medicine.medical_specialty, pathology [Corpus Striatum], Pain, Prefrontal Cortex, genetics [Perceptual Disorders], MAPT protein, human, tau Proteins, diagnostic imaging [Frontotemporal Dementia], Temporal lobe, Perceptual Disorders, 03 medical and health sciences, Atrophy, pathology [Thalamus], Internal medicine, Humans, ddc:610, genetics [C9orf72 Protein], 030304 developmental biology, diagnostic imaging [Perceptual Disorders], Aged, diagnostic imaging [Thalamus], C9orf72 Protein, business.industry, pathology [Temporal Lobe], diagnostic imaging [Atrophy], physiopathology [Atrophy], medicine.disease, diagnostic imaging [Cerebellum], pathology [Prefrontal Cortex], Corpus Striatum, physiopathology [Perceptual Disorders], genetics [tau Proteins], diagnostic imaging [Temporal Lobe], Logistic Models, Asymptomatic Diseases, Mutation, GRN protein, human, Surgery, Orbitofrontal cortex, pathology [Cerebral Cortex], Neurology (clinical), C9orf72 protein, human, business, 030217 neurology & neurosurgery
Abstract: © Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. published by BMJ., Objective: Frontotemporal dementia (FTD) is typically associated with changes in behaviour, language and movement. However, recent studies have shown that patients can also develop an abnormal response to pain, either heightened or diminished. We aimed to investigate this symptom in mutation carriers within the Genetic FTD Initiative (GENFI). Methods: Abnormal responsiveness to pain was measured in 462 GENFI participants: 281 mutation carriers and 181 mutation-negative controls. Changes in responsiveness to pain were scored as absent (0), questionable or very mild (0.5), mild (1), moderate (2) or severe (3). Mutation carriers were classified into C9orf72 (104), GRN (128) and MAPT (49) groups, and into presymptomatic and symptomatic stages. An ordinal logistic regression model was used to compare groups, adjusting for age and sex. Voxel-based morphometry was performed to identify neuroanatomical correlates of abnormal pain perception. Results: Altered responsiveness to pain was present to a significantly greater extent in symptomatic C9orf72 expansion carriers than in controls: mean score 0.40 (SD 0.71) vs 0.00 (0.04), reported in 29% vs 1%. No significant differences were seen between the other symptomatic groups and controls, or any of the presymptomatic mutation carriers and controls. Neural correlates of altered pain perception in C9orf72 expansion carriers were the bilateral thalamus and striatum as well as a predominantly right-sided network of regions involving the orbitofrontal cortex, inferomedial temporal lobe and cerebellum. Conclusion: Changes in pain perception are a feature of C9orf72 expansion carriers, likely representing a disruption in somatosensory, homeostatic and semantic processing, underpinned by atrophy in a thalamo-cortico-striatal network.
Published: 2020
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20. Three-dimensional MR angiography in the study of intracranial neoplasms

Author: Gasparotti, R., Gualandi, G. F., Orlandini, A., Chiesa, A., du Boulay, George, editor, Molyneux, Andrew, editor, and Moseley, Ivan, editor
Published: 1991
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21. Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

Author: Altmann, A., Cash, D. M., Bocchetta, M., Heller, C., Reynolds, R., Moore, K., Convery, R. S., Thomas, D. L., Van Swieten, J. C., Moreno, F., Sanchez-Valle, R., Borroni, B., Laforce, R., Masellis, M., Tartaglia, M. C., Graff, C., Galimberti, D., Rowe, J. B., Finger, E., Synofzik, M., Vandenberghe, R., De Mendonca, A., Tagliavini, F., Santana, I., Ducharme, S., Butler, C. R., Gerhard, A., Levin, J., Danek, A., Frisoni, G., Ghidoni, R., Sorbi, S., Otto, M., Ryten, M., Rohrer, J. D., Greaves, C., Peakman, G., Shafei, R., Todd, E., Rossor, M. N., Warren, J. D., Fox, N. C., Zetterberg, H., Guerreiro, R., Bras, J., Nicholas, J., Mead, S., Jiskoot, L., Meeter, L., Panman, J., Papma, J. M., Van Minkelen, R., Pijnenburg, Y., Barandiaran, M., Indakoetxea, B., Gabilondo, A., Tainta, M., De Arriba, M., Gorostidi, A., Zulaica, M., Villanua, J., Diaz, Z., Borrego-Ecija, S., Olives, J., Llado, A., Balasa, M., Antonell, A., Bargallo, N., Premi, E., Cosseddu, M., Gazzina, S., Padovani, A., Gasparotti, R., Archetti, S., Black, S., Mitchell, S., Rogaeva, E., Freedman, M., Keren, R., Tang-Wai, D., Oijerstedt, L., Andersson, C., Jelic, V., Thonberg, H., Arighi, A., Fenoglio, C., Scarpini, E., Fumagalli, G., Cope, T., Timberlake, C., Rittman, T., Shoesmith, C., Bartha, R., Rademakers, R., Wilke, C., Karnarth, H. -O., Bender, B., Bruffaerts, R., Van Damme, P., Vandenbulcke, M., Ferreira, C. B., Miltenberger, G., Maruta, C., Verdelho, A., Afonso, S., Taipa, R., Caroppo, P., Di Fede, G., Giaccone, G., Prioni, S., Redaelli, V., Rossi, G., Tiraboschi, P., Duro, D., Almeida, M. R., Castelo-Branco, M., Leitao, M. J., Tabuas-Pereira, M., Santiago, B., Gauthier, S., Rosa-Neto, P., Veldsman, M., Thompson, P., Langheinrich, T., Prix, C., Hoegen, T., Wlasich, E., Loosli, S., Schonecker, S., Semler, E., Anderl-Straub, S., Benussi, L., Binetti, G., Pievani, M., Lombardi, G., Nacmias, B., Ferrari, C., Bessi, V., Polito, C., Rowe, James [0000-0001-7216-8679], Apollo - University of Cambridge Repository, Medical Research Council, and Genetic FTD Initiative, GENFI
Subjects: 0301 basic medicine, Cell type, Imaging genetics, Clinical Neurology, Medizin, Biology, Article, DISEASE, 03 medical and health sciences, 0302 clinical medicine, Atrophy, atrophy, C9orf72, Gene expression, medicine, Astrocytes, Frontotemporal dementia, ddc:610, 10. No inequality, Gene, 030304 developmental biology, Genetics, 0303 health sciences, Science & Technology, TREM2, AcademicSubjects/SCI01870, Neurodegeneration, General Engineering, C9orf72 Gene, Neurosciences, astrocytes, Genetic FTD Initiative, GENFI, medicine.disease, C9orf72 Protein, 030104 developmental biology, gene expression, imaging genetics, Original Article, AcademicSubjects/MED00310, Human medicine, Neurosciences & Neurology, Life Sciences & Biomedicine, 030217 neurology & neurosurgery
Abstract: Frontotemporal dementia is a heterogeneous neurodegenerative disorder characterized by neuronal loss in the frontal and temporal lobes. Despite progress in understanding which genes are associated with the aetiology of frontotemporal dementia, the biological basis of how mutations in these genes lead to cell loss in specific cortical regions remains unclear. In this work, we combined gene expression data for 16 772 genes from the Allen Institute for Brain Science atlas with brain maps of grey matter atrophy in symptomatic C9orf72, GRN and MAPT mutation carriers obtained from the Genetic Frontotemporal dementia Initiative study. No significant association was seen between C9orf72, GRN and MAPT expression and the atrophy patterns in the respective genetic groups. After adjusting for spatial autocorrelation, between 1000 and 5000 genes showed a negative or positive association with the atrophy pattern within each individual genetic group, with the most significantly associated genes being TREM2, SSBP3 and GPR158 (negative association in C9Orf72, GRN and MAPT respectively) and RELN, MXRA8 and LPA (positive association in C9Orf72, GRN and MAPT respectively). An overrepresentation analysis identified a negative association with genes involved in mitochondrial function, and a positive association with genes involved in vascular and glial cell function in each of the genetic groups. A set of 423 and 700 genes showed significant positive and negative association, respectively, with atrophy patterns in all three maps. The gene set with increased expression in spared cortical regions was enriched for neuronal and microglial genes, while the gene set with increased expression in atrophied regions was enriched for astrocyte and endothelial cell genes. Our analysis suggests that these cell types may play a more active role in the onset of neurodegeneration in frontotemporal dementia than previously assumed, and in the case of the positively associated cell marker genes, potentially through emergence of neurotoxic astrocytes and alteration in the blood–brain barrier, respectively., Altmann et al. investigated the concordance between spatial cortical gene expression in healthy subjects and atrophy patterns in genetic frontotemporal dementia. They found that elevated gene expression of endothelial cell and astrocyte-related genes in regions with atrophy, suggesting a role of these cell types in the aetiology of frontotemporal dementia., Graphical Abstract Graphical Abstract
Published: 2020
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22. Endovascular Thrombectomy for Acute Ischemic Stroke beyond 6 Hours from Onset: A Real-World Experience

Author: Casetta, I., Fainardi, E., Saia, V., Pracucci, G., Padroni, M., Renieri, L., Nencini, P., Inzitari, D., Morosetti, D., Sallustio, F., Vallone, S., Bigliardi, G., Zini, A., Longo, M., Francalanza, I., Bracco, S., Vallone, I. M., Tassi, R., Bergui, M., Naldi, A., Saletti, A., De Vito, A., Gasparotti, R., Magoni, M., Castellan, L., Serrati, C., Menozzi, R., Scoditti, U., Causin, F., Pieroni, A., Puglielli, E., Casalena, A., Sanna, A., Ruggiero, M., Cordici, F., Di Maggio, L., Duc, E., Cosottini, M., Giannini, N., Sanfilippo, G., Zappoli, F., Toni, D., Cavasin, N., Critelli, A., Ciceri, E., Plebani, M., Cappellari, M., Chiumarulo, L., Petruzzellis, M., Terrana, A., Cariddi, L. P., Burdi, N., Tinelli, A., Auteri, W., Silvagni, U., Biraschi, F., Nicolini, E., Padolecchia, R., Tassinari, T., Filauri, P., Sacco, S., Pavia, M., Invernizzi, P., Nuzzi, N. P., Marcheselli, S., Amista, P., Russo, M., Gallesio, I., Craparo, G., Mannino, M., and Mangiafico, S.
Subjects: Male, medicine.medical_specialty, Middle Cerebral Artery, Time Factors, cerebral blood volume, collateral circulation, groin, intracranial hemorrhage, middle cerebral artery, thrombectomy, Ischemia, Brain Ischemia, Brain ischemia, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine.artery, medicine, Humans, 030212 general & internal medicine, Acute ischemic stroke, Stroke, Aged, Advanced and Specialized Nursing, medicine.diagnostic_test, Groin, business.industry, Endovascular Procedures, Ambientale, Middle Aged, medicine.disease, Collateral circulation, Intracranial Hemorrhages/*surgery Ischemia/surgery Male Middle Aged Middle Cerebral Artery/physiopathology/surgery Stroke/*surgery Thrombectomy/methods Time Factors cerebral blood volume collateral circulation, Cerebral Angiography, medicine.anatomical_structure, Middle cerebral artery, Cardiology, Female, Neurology (clinical), Cardiology and Cardiovascular Medicine, business, Intracranial Hemorrhages, 030217 neurology & neurosurgery, Thrombectomy, Cerebral angiography
Abstract: Background and Purpose: To evaluate outcome and safety of endovascular treatment beyond 6 hours of onset of ischemic stroke due to large vessel occlusion in the anterior circulation, in routine clinical practice. Methods: From the Italian Registry of Endovascular Thrombectomy, we extracted clinical and outcome data of patients treated for stroke of known onset beyond 6 hours. Additional inclusion criteria were prestroke modified Rankin Scale score ≤2 and ASPECTS score ≥6. Patients were selected on individual basis by a combination of CT perfusion mismatch (difference between total hypoperfusion and infarct core sizes) and CT collateral score. The primary outcome measure was the score on modified Rankin Scale at 90 days. Safety outcomes were 90-day mortality and the occurrence of symptomatic intracranial hemorrhage. Data were compared with those from patients treated within 6 hours. Results: Out of 3057 patients, 327 were treated beyond 6 hours. Their mean age was 66.8±14.9 years, the median baseline National Institutes of Health Stroke Scale 16, and the median onset to groin puncture time 430 minutes. The most frequent site of occlusion was middle cerebral artery (45.1%). Functional independence (90-day modified Rankin Scale score, 0–2) was achieved by 41.3% of cases. Symptomatic intracranial hemorrhage occurred in 6.7% of patients, and 3-month case fatality rate was 17.1%. The probability of surviving with modified Rankin Scale score, 0–2 (odds ratio, 0.58 [95% CI, 0.43–0.77]) was significantly lower in patients treated beyond 6 hours as compared with patients treated earlier No differences were found regarding recanalization rates and safety outcomes between patients treated within and beyond 6 hours. There were no differences in outcome between people treated 6-12 hours from onset (278 patients) and those treated 12 to 24 hours from onset (49 patients). Conclusions: This real-world study suggests that in patients with large vessel occlusion selected on the basis of CT perfusion and collateral circulation assessment, endovascular treatment beyond 6 hours is feasible and safe with no increase in symptomatic intracranial hemorrhage.
Published: 2020

23. Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort

Author: Russell, L.L. (Lucy L.), Greaves, C.V. (Caroline V.), Bocchetta, M. (Martina), Nicholas, J.M. (Jennifer), Convery, R.S. (Rhian S.), Moore, K. (Katrina), Cash, D.M. (David M.), Swieten, J.C. (John) van, Jiskoot, L.C. (Lize), Moreno, F. (Fermin), Sánchez-Valle, R. (Raquel), Borroni, B. (Barbara), Laforce, R. (Robert), Masellis, M. (Mario), Tartaglia, M.C. (Maria Carmela), Graff, C. (Caroline), Rotondo, E. (Emanuela), Galimberti, D. (Daniela), Rowe, J.B. (James), Finger, E. (Elizabeth), Synofzik, M. (Matthis), Vandenberghe, R. (Rik), De Mendonça, A. (Alexandre), Tagliavini, F. (Fabrizio), Santana, I. (Isabel), Ducharme, S. (Simon), Butler, C. (Chris), Gerhard, A. (Alex), Levin, J. (Johannes), Danek, A. (Adrian), Otto, M. (Markus), Warren, J.D. (Jason), Rohrer, J.D. (Jonathan), Rossor, M. (Martin), Fox, N.C. (Nick), Woollacott, I.O.C. (Ione O.C.), Shafei, R. (Rachelle), Heller, C. (Carolin), Guerreiro, R. (Rita), Bras, J. (Jose), Thomas, D.L. (David L), Mead, S. (Simon), Meeter, L.H.H. (Lieke), Panman, J.L. (Jessica), Papma, J.M. (Janne), Poos, J.M. (Jackie), Thornton, A.S. (Andrew), Pijnenburg, Y. (Yolanda), Barandiaran, M. (Myriam), Indakoetxea, B. (Begoña), Gabilondo, A. (Alazne), Tainta, M. (Mikel), de Arriba, M. (Maria), Gorostidi, A. (Ana), Zulaica, M. (Miren), Villanua, J. (Jorge), Diaz, Z. (Zigor), Borrego-Ecija, S. (Sergi), Olives, J. (Jaume), Lladó, A. (Albert), Balasa, M. (Mircea), Antonell, A. (Anna), Bargallo, N. (Nuria), Premi, E. (Enrico), Cosseddu MPsych, M. (Maura), Gazzina, S. (Stefano), Padovani, A. (Alessandro), Gasparotti, R. (Roberto), Archetti, S. (Silvana), Black, S.E. (Sandra), Mitchell, S. (Sara), Rogaeva, E. (Ekaterina), Freedman, M. (Morris), Keren, R. (Ron), Tang-Wai, D. (Daid), Öijerstedt, L. (Linn), Andersson, C. (Christin), Jelic, S. (Svetislav Svetislav), Thonberg, H. (Håkan), Arighi, A. (Andrea), Fenoglio, C. (Chiara), Scarpini, E. (Elio), Fumagalli, G. (Giorgio), Cope, T. (Thomas), Timberlake, C. (Carolyn), Rittman, T. (Timothy), Shoesmith, C. (Christen), Bartha, R. (Robart), Rademakers, S. (Suzanne), Wilke, C. (Carlo), Karnarth, H.-O. (Hans-Otto), Bender, B. (Benjamin), Bruffaerts, R. (Rose), Vandamme, P. (Philip), Vandenbulcke, M. (Mathieu), Ferreira, C.B. (Catarina B.), Miltenberger, G. (Gabriel), Maruta MPsych, C. (Carolina), Verdelho, A. (Ana), Afonso, S. (Sónia), Taipa, R. (Ricardo), Caroppo, P. (Paola), Di Fede, G. (Giuseppe), Giaccone, G. (Giuseppe), Muscio, C. (Cristina), Prioni, S. (Sara), Redaelli, V. (Veronica), Rossi, G. (Giacomina), Tiraboschi, P. (Pietro), Duro NPsych, D. (Diana), Almeida, M.R. (Maria R.), Castelo-Branco, M. (Miguel), Leitão, M.J. (Maria J.), Tabuas-Pereira, M. (Miguel), Santiago, B. (Beatriz), Gauthier, S. (Serge), Rosa-Neto, P. (Pedro), Veldsman, M. (Michele), Thompson, P.M. (Paul), Langheinrich, T. (Tobias), Prix, C. (Catharina), Hoegen, T. (Tobias), Wlasich, E. (Elisabeth), Loosli, S. (Sandra), Schonecker, S. (Sonja), Semler, E. (Elisa), Anderl-Straub, S. (Sarah), Russell, L.L. (Lucy L.), Greaves, C.V. (Caroline V.), Bocchetta, M. (Martina), Nicholas, J.M. (Jennifer), Convery, R.S. (Rhian S.), Moore, K. (Katrina), Cash, D.M. (David M.), Swieten, J.C. (John) van, Jiskoot, L.C. (Lize), Moreno, F. (Fermin), Sánchez-Valle, R. (Raquel), Borroni, B. (Barbara), Laforce, R. (Robert), Masellis, M. (Mario), Tartaglia, M.C. (Maria Carmela), Graff, C. (Caroline), Rotondo, E. (Emanuela), Galimberti, D. (Daniela), Rowe, J.B. (James), Finger, E. (Elizabeth), Synofzik, M. (Matthis), Vandenberghe, R. (Rik), De Mendonça, A. (Alexandre), Tagliavini, F. (Fabrizio), Santana, I. (Isabel), Ducharme, S. (Simon), Butler, C. (Chris), Gerhard, A. (Alex), Levin, J. (Johannes), Danek, A. (Adrian), Otto, M. (Markus), Warren, J.D. (Jason), Rohrer, J.D. (Jonathan), Rossor, M. (Martin), Fox, N.C. (Nick), Woollacott, I.O.C. (Ione O.C.), Shafei, R. (Rachelle), Heller, C. (Carolin), Guerreiro, R. (Rita), Bras, J. (Jose), Thomas, D.L. (David L), Mead, S. (Simon), Meeter, L.H.H. (Lieke), Panman, J.L. (Jessica), Papma, J.M. (Janne), Poos, J.M. (Jackie), Thornton, A.S. (Andrew), Pijnenburg, Y. (Yolanda), Barandiaran, M. (Myriam), Indakoetxea, B. (Begoña), Gabilondo, A. (Alazne), Tainta, M. (Mikel), de Arriba, M. (Maria), Gorostidi, A. (Ana), Zulaica, M. (Miren), Villanua, J. (Jorge), Diaz, Z. (Zigor), Borrego-Ecija, S. (Sergi), Olives, J. (Jaume), Lladó, A. (Albert), Balasa, M. (Mircea), Antonell, A. (Anna), Bargallo, N. (Nuria), Premi, E. (Enrico), Cosseddu MPsych, M. (Maura), Gazzina, S. (Stefano), Padovani, A. (Alessandro), Gasparotti, R. (Roberto), Archetti, S. (Silvana), Black, S.E. (Sandra), Mitchell, S. (Sara), Rogaeva, E. (Ekaterina), Freedman, M. (Morris), Keren, R. (Ron), Tang-Wai, D. (Daid), Öijerstedt, L. (Linn), Andersson, C. (Christin), Jelic, S. (Svetislav Svetislav), Thonberg, H. (Håkan), Arighi, A. (Andrea), Fenoglio, C. (Chiara), Scarpini, E. (Elio), Fumagalli, G. (Giorgio), Cope, T. (Thomas), Timberlake, C. (Carolyn), Rittman, T. (Timothy), Shoesmith, C. (Christen), Bartha, R. (Robart), Rademakers, S. (Suzanne), Wilke, C. (Carlo), Karnarth, H.-O. (Hans-Otto), Bender, B. (Benjamin), Bruffaerts, R. (Rose), Vandamme, P. (Philip), Vandenbulcke, M. (Mathieu), Ferreira, C.B. (Catarina B.), Miltenberger, G. (Gabriel), Maruta MPsych, C. (Carolina), Verdelho, A. (Ana), Afonso, S. (Sónia), Taipa, R. (Ricardo), Caroppo, P. (Paola), Di Fede, G. (Giuseppe), Giaccone, G. (Giuseppe), Muscio, C. (Cristina), Prioni, S. (Sara), Redaelli, V. (Veronica), Rossi, G. (Giacomina), Tiraboschi, P. (Pietro), Duro NPsych, D. (Diana), Almeida, M.R. (Maria R.), Castelo-Branco, M. (Miguel), Leitão, M.J. (Maria J.), Tabuas-Pereira, M. (Miguel), Santiago, B. (Beatriz), Gauthier, S. (Serge), Rosa-Neto, P. (Pedro), Veldsman, M. (Michele), Thompson, P.M. (Paul), Langheinrich, T. (Tobias), Prix, C. (Catharina), Hoegen, T. (Tobias), Wlasich, E. (Elisabeth), Loosli, S. (Sandra), Schonecker, S. (Sonja), Semler, E. (Elisa), and Anderl-Straub, S. (Sarah)
Abstract: A key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and Faux Pas (FP) recognition tests were used to study social cognition within the Genetic Frontotemporal Dementia Initiative (GENFI), a large familial FTD cohort of C9orf72, GRN, and MAPT mutation carriers. 627 participants undertook at least one of the tasks, and were separated into mutation-negative healthy controls, presymptomatic mutation carriers (split into early and late groups) and symptomatic mutation carriers. Groups were compared using a linear regression model with bootstrapping, adjusting for age, sex, education, and for the FP recognition test, language. Neural correlates of social cognition deficits were explored using a voxel-based morphometry (VBM) study. All three of the symptomatic genetic groups were impaired on both tasks with no significant difference between them. However, prior to onset, only the late presymptomatic C9orf72 mutation carriers on the FER test were impaired compared to the control group, with a subanalysis showing differences particularly in fear and sadness. The VBM analysis revealed that impaired social cognition was mainly associated with a left hemisphere predominant network of regions involving particularly the striatum, orbitofrontal cortex and insula, and to a lesser extent the inferomedial temporal lobe and other areas of the frontal lobe. In conclusion, theory of mind and emotion processing abilities are impaired in familial FTD, with early changes occurring prior to symptom onset in C9orf72 presymptomatic mutation carriers. Future work should investigate how performance changes over time, in order to gain a clearer insight into social cognitive impairment over the course of the
Published: 2020
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24. Impact of a posttraumatic cerebral infarction on outcome in patients with TBI: The Italian multicenter cohort INCEPT study

Author: Latronico, N, Piva, S, Fagoni, N, Pinelli, L, Frigerio, M, Tintori, D, Berardino, M, Bottazzi, A, Carnevale, L, Casalicchio, T, Castioni, C, Cavallo, S, Cerasti, D, Citerio, G, Fontanella, M, Galiberti, S, Girardini, A, Gritti, P, Manara, O, Maremmani, P, Mazzani, R, Natalini, G, Patassini, M, Perna, M, Pesaresi, I, Radolovich, D, Saini, M, Stefini, R, Minelli, C, Gasparotti, R, Rasulo, F, Latronico, Nicola, Piva, Simone, Fagoni, Nazzareno, Pinelli, Lorenzo, Frigerio, Michele, Tintori, Davide, Berardino, Maurizio, Bottazzi, Andrea, Carnevale, Livio, Casalicchio, Tiziana, Castioni, Carlo Alberto, Cavallo, Simona, Cerasti, Davide, Citerio, Giuseppe, Fontanella, Marco, Galiberti, Serena, Girardini, Alan, Gritti, Paolo, Manara, Ornella, Maremmani, Paolo, Mazzani, Roberta, Natalini, Giuseppe, Patassini, Mirko, Perna, Maria Elena, Pesaresi, Ilaria, Radolovich, Danila Katia, Saini, Maurizio, Stefini, Roberto, Minelli, Cosetta, Gasparotti, Roberto, Rasulo, Francesco A., Latronico, N, Piva, S, Fagoni, N, Pinelli, L, Frigerio, M, Tintori, D, Berardino, M, Bottazzi, A, Carnevale, L, Casalicchio, T, Castioni, C, Cavallo, S, Cerasti, D, Citerio, G, Fontanella, M, Galiberti, S, Girardini, A, Gritti, P, Manara, O, Maremmani, P, Mazzani, R, Natalini, G, Patassini, M, Perna, M, Pesaresi, I, Radolovich, D, Saini, M, Stefini, R, Minelli, C, Gasparotti, R, Rasulo, F, Latronico, Nicola, Piva, Simone, Fagoni, Nazzareno, Pinelli, Lorenzo, Frigerio, Michele, Tintori, Davide, Berardino, Maurizio, Bottazzi, Andrea, Carnevale, Livio, Casalicchio, Tiziana, Castioni, Carlo Alberto, Cavallo, Simona, Cerasti, Davide, Citerio, Giuseppe, Fontanella, Marco, Galiberti, Serena, Girardini, Alan, Gritti, Paolo, Manara, Ornella, Maremmani, Paolo, Mazzani, Roberta, Natalini, Giuseppe, Patassini, Mirko, Perna, Maria Elena, Pesaresi, Ilaria, Radolovich, Danila Katia, Saini, Maurizio, Stefini, Roberto, Minelli, Cosetta, Gasparotti, Roberto, and Rasulo, Francesco A.
Abstract: Background: Post-traumatic cerebral infarction (PTCI) is common after traumatic brain injury (TBI). It is unclear what the occurrence of a PTCI is, how it impacts the long-term outcome, and whether it adds incremental prognostic value to established outcome predictors. Methods: This was a prospective multicenter cohort study of moderate and severe TBI patients. The primary objective was to evaluate if PTCI was an independent risk factor for the 6-month outcome assessed with the Glasgow Outcome Scale (GOS). We also assessed the PTCI occurrence and if it adds incremental value to the International Mission for Prognosis and Clinical Trial design in TBI (IMPACT) core and extended models. Results: We enrolled 143 patients, of whom 47 (32.9%) developed a PTCI. In the multiple ordered logistic regression, PTCI was retained in both the core and extended IMPACT models as an independent predictor of the GOS. The predictive performances increased significantly when PTCI was added to the IMPACT core model (AUC = 0.73, 95% C.I. 0.66-0.82; increased to AUC = 0.79, 95% CI 0.71-0.83, p = 0.0007) and extended model (AUC = 0.74, 95% C.I. 0.65-0.81 increased to AUC = 0.80, 95% C.I. 0.69-0.85; p = 0.00008). Patients with PTCI showed higher ICU mortality and 6-month mortality, whereas hospital mortality did not differ between the two groups. Conclusions: PTCI is a common complication in patients suffering from a moderate or severe TBI and is an independent risk factor for long-term disability. The addition of PTCI to the IMPACT core and extended predictive models significantly increased their performance in predicting the GOS.
Published: 2020

25. Pituitary adenomas and neuropsychological status: a systematic literature review

Author: Pertichetti, M., Serioli, S., Belotti, F., Mattavelli, D., Schreiber, A., Cappelli, C., Padovani, A., Gasparotti, R., Nicolai, P., Fontanella, M. M., Doglietto, Francesco, Doglietto F. (ORCID:0000-0002-7438-0734), Pertichetti, M., Serioli, S., Belotti, F., Mattavelli, D., Schreiber, A., Cappelli, C., Padovani, A., Gasparotti, R., Nicolai, P., Fontanella, M. M., Doglietto, Francesco, and Doglietto F. (ORCID:0000-0002-7438-0734)
Abstract: Neurocognitive and psychological dysfunctions associated with pituitary adenomas (PAs) are clinically relevant, though probably under-reported. The aim of the current review is to provide an update on neuropsychological status, psychopathology, and perceived quality of life (QoL) in patients with PAs. A systematic research was performed in PubMed and Scopus in order to identify reports on neurocognitive, psychiatric, and psychological disorders in PAs. Prevalence of alterations, QoL evaluation, and used tests were also recorded. PRISMA guidelines were followed. Of 62,448 identified articles, 102 studies were included in the systematic review. The prevalence of neurocognitive dysfunctions was 15–83% in Cushing’s Disease (CD), 2–33% in acromegaly, mostly affecting memory and attention. Memory was altered in 22% of nonfunctioning (NF) PAs. Worsened QoL was reported in 40% of CD patients. The prevalence of psychiatric disorders in CD reached 77% and in acromegaly 63%, mostly involving depression, followed by psychosis, and anxiety. The prevalence of psychopathology was up to 83% in CD, and 35% in acromegaly. Postoperative improvement in patients with CD was observed for: learning processes, overall memory, visuospatial skills, and language skills. Short-term memory and psychomotor speed improved in NFPAs. Postoperative improvement of QoL, somatic symptoms, obsessive-compulsive disorder, and coping strategies was seen in CD and acromegaly. Reports after radiotherapy are discordant. There is wide variability in used tests. PAs have been recently shown to be associated with altered neurocognitive and neuropsychological functions, as well as QoL. These data suggest the importance of a multidisciplinary evaluation for an optimal management.
Published: 2020

26. Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort

Author: Russell, LL, Greaves, CV, Bocchetta, M, Nicholas, J, Convery, RS, Moore, K, Cash, DM, van Swieten, J.C., Jiskoot, Lize, Moreno, F, Sanchez-Valle, R, Borroni, B, Laforce, R, Jr, Masellis, M, Tartaglia, MC, Graff, C, Rotondo, E, Galimberti, D, Rowe, JB, Finger, E, Synofzik, M, Vandenberghe, R, Mendonça, A, Tagliavini, F, Santana, I, Ducharme, S, Butler, C, Gerhard, A, Levin, J, Danek, A, Otto, M, Warren, JD, Rohrer, JD, Rossor, MN, Fox, NC, Woollacott, IOC, Shafei, R, Heller, C, Guerreiro, R, Bras, J, Thomas, DL, Mead, S, Meeter, Lieke, Panman, J, Papma, J, Poos, J, van Minkelen, Rick, Al Pijnenburg, Y, Barandiaran, M, Indakoetxea, B, Gabilondo, A, Tainta, M, de Arriba, M, Gorostidi, A, Zulaica, M, Villanua, J, Diaz, Z, Borrego-Ecija, S, Olives, J, Lladó, A, Balasa, M, Antonell, A, Bargallo, N, Premi, E, Cosseddu Mpsych, M, Gazzina, S, Padovani, A, Gasparotti, R, Archetti, S, Black, S, Mitchell, S, Rogaeva, E, Freedman, M, Keren, R, Tang-Wai, D, Öijerstedt, L, Andersson, C, Jelic, V, Thonberg, H, Arighi, A, Fenoglio, C, Scarpini, E, Fumagalli, G, Cope, T, Timberlake, C, Rittman, T, Shoesmith, C, Bartha, R, Rademakers, R, Wilke, C, Karnarth, HO, Bender, B, Bruffaerts, R, Vandamme, P, Vandenbulcke, M, Ferreira, CB, Miltenberger, G, Maruta Mpsych, C, Verdelho, A, Afonso, S, Taipa, R, Caroppo, P, Di Fede, G, Giaccone, G, Muscio, C, Prioni, S, Redaelli, V, Rossi, G, Tiraboschi, P, Duro Npsych, D, Almeida, M R, Castelo-Branco, M, Leitão, MJ, Tabuas-Pereira, M, Santiago, B, Gauthier, S, Rosa-Neto, P, Veldsman, M, Thompson, P, Langheinrich, T, Prix, C, Hoegen, T, Wlasich, E, Loosli, S, Schonecker, S, Semler, E, Anderl-Straub, S, Russell, LL, Greaves, CV, Bocchetta, M, Nicholas, J, Convery, RS, Moore, K, Cash, DM, van Swieten, J.C., Jiskoot, Lize, Moreno, F, Sanchez-Valle, R, Borroni, B, Laforce, R, Jr, Masellis, M, Tartaglia, MC, Graff, C, Rotondo, E, Galimberti, D, Rowe, JB, Finger, E, Synofzik, M, Vandenberghe, R, Mendonça, A, Tagliavini, F, Santana, I, Ducharme, S, Butler, C, Gerhard, A, Levin, J, Danek, A, Otto, M, Warren, JD, Rohrer, JD, Rossor, MN, Fox, NC, Woollacott, IOC, Shafei, R, Heller, C, Guerreiro, R, Bras, J, Thomas, DL, Mead, S, Meeter, Lieke, Panman, J, Papma, J, Poos, J, van Minkelen, Rick, Al Pijnenburg, Y, Barandiaran, M, Indakoetxea, B, Gabilondo, A, Tainta, M, de Arriba, M, Gorostidi, A, Zulaica, M, Villanua, J, Diaz, Z, Borrego-Ecija, S, Olives, J, Lladó, A, Balasa, M, Antonell, A, Bargallo, N, Premi, E, Cosseddu Mpsych, M, Gazzina, S, Padovani, A, Gasparotti, R, Archetti, S, Black, S, Mitchell, S, Rogaeva, E, Freedman, M, Keren, R, Tang-Wai, D, Öijerstedt, L, Andersson, C, Jelic, V, Thonberg, H, Arighi, A, Fenoglio, C, Scarpini, E, Fumagalli, G, Cope, T, Timberlake, C, Rittman, T, Shoesmith, C, Bartha, R, Rademakers, R, Wilke, C, Karnarth, HO, Bender, B, Bruffaerts, R, Vandamme, P, Vandenbulcke, M, Ferreira, CB, Miltenberger, G, Maruta Mpsych, C, Verdelho, A, Afonso, S, Taipa, R, Caroppo, P, Di Fede, G, Giaccone, G, Muscio, C, Prioni, S, Redaelli, V, Rossi, G, Tiraboschi, P, Duro Npsych, D, Almeida, M R, Castelo-Branco, M, Leitão, MJ, Tabuas-Pereira, M, Santiago, B, Gauthier, S, Rosa-Neto, P, Veldsman, M, Thompson, P, Langheinrich, T, Prix, C, Hoegen, T, Wlasich, E, Loosli, S, Schonecker, S, Semler, E, and Anderl-Straub, S
Published: 2020

27. Expanding the role of education in frontotemporal dementia: a functional dynamic connectivity (the chronnectome) study

Author: Premi, E., Cristillo, V., Gazzina, S., Benussi, A., Alberici, A., Cotelli, M. S., Calhoun, V. D., Iraji, A., Magoni, M., Cotelli, Maria, Micheli, A., Gasparotti, R., Padovani, A., Borroni, B., Cotelli Maria, Premi, E., Cristillo, V., Gazzina, S., Benussi, A., Alberici, A., Cotelli, M. S., Calhoun, V. D., Iraji, A., Magoni, M., Cotelli, Maria, Micheli, A., Gasparotti, R., Padovani, A., Borroni, B., and Cotelli Maria
Abstract: In the present study, we aim at investigating whether education modulates dynamical properties of time-varying whole-brain network connectivity (the chronnectome) in frontotemporal dementia (FTD) at a given level of symptom severity. Dynamic connectivity parameters were evaluated in 128 patients with FTD using independent component analysis, sliding-time window correlation, and k-means approach to resting state–magnetic resonance imaging data. We evaluated the relationship between education, a proxy measure of cognitive reserve, and 4 indexes of metastate dynamic connectivity: (1) the number of distinct metastates a patient passes through, (2) the number of switches from one metastate to another, (3) the span of the realized metastates, and (4) the total distance traveled in the state space. We found a significant inverse correlation between years of education and the 4 indexes of metastate dynamic fluidity (all p-values ≤ 0.03, false discovery rate–corrected). This study suggests that patients with FTD with higher education but comparable clinical severity show more global functional brain impairment, suggesting that patients with higher cognitive reserve can cope with more global brain fluidity reduction.
Published: 2020

28. Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags

Author: Campagnolo, M., Taioli, F., Cacciavillani, M., Ruiz, M., Luigetti, Marco, Salvalaggio, A., Castellani, F., Testi, S., Ferrarini, M., Cavallaro, T., Gasparotti, R., Fabrizi, G. M., Briani, C., Luigetti M. (ORCID:0000-0001-7539-505X), Campagnolo, M., Taioli, F., Cacciavillani, M., Ruiz, M., Luigetti, Marco, Salvalaggio, A., Castellani, F., Testi, S., Ferrarini, M., Cavallaro, T., Gasparotti, R., Fabrizi, G. M., Briani, C., and Luigetti M. (ORCID:0000-0001-7539-505X)
Abstract: Hereditary neuropathies may be misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). A correct diagnosis is crucial for avoiding unnecessary therapies and access genetic counseling. We report on nine patients (seven men, mean age 49.2 ± 16.1) diagnosed with and treated as CIDP, in whom mutations or variants of unknown significance (VUS) in genes associated with hereditary neuropathies were reported. All underwent neurological and neurophysiological examination, eight also cerebrospinal fluid (CSF) analysis. In 4/9, nerve ultrasound and/or MR-neurography were performed. All the patients complained of progressive upper or lower limbs sensory-motor symptoms, with heterogeneous disease duration (1-34 years, mean 8.6 ± 10.8). Neurophysiology showed demyelinating signs in seven patients, mixed findings with predominant axonal damage in two patients. Neuroimaging disclosed diffuse abnormalities at proximal and distal segments. Molecular screening showed PMP22 duplication in two patients, mutations in the MPZ, EGR2, and GJB1 genes were reported in each of the remaining patients. The two patients with mixed neurophysiological findings had p.Val30Met mutation in the transthyretin gene. Two patients had VUS in the MARS and HSPB1 genes. Four patients had partial response to immunomodulant therapies, and CSF and neurophysiological features suggesting an inflammatory condition concomitant with the hereditary neuropathy. Hereditary neuropathy may be misdiagnosed with CIDP. The most common pitfalls are CSF (high protein levels and oligoclonal bands), incorrect interpretation of neurophysiology, and transient benefit from therapies. Neuroimaging may be helpful in cases with atypical presentations or when severe axonal damage complicate the neurophysiological interpretation.
Published: 2020

29. Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers

Author: Salvalaggio, A., Coraci, Daniele, Cacciavillani, M., Obici, L., Mazzeo, A., Luigetti, Marco, Pastorelli, F., Grandis, M., Cavallaro, T., Bisogni, G., Lozza, A., Gemelli, C., Gentile, L., Ermani, M., Fabrizi, G. M., Plasmati, R., Campagnolo, M., Castellani, F., Gasparotti, Roberto, Martinoli, C., Padua, Luca, Briani, C., Coraci D., Luigetti M. (ORCID:0000-0001-7539-505X), Gasparotti R., Padua L. (ORCID:0000-0003-2570-9326), Salvalaggio, A., Coraci, Daniele, Cacciavillani, M., Obici, L., Mazzeo, A., Luigetti, Marco, Pastorelli, F., Grandis, M., Cavallaro, T., Bisogni, G., Lozza, A., Gemelli, C., Gentile, L., Ermani, M., Fabrizi, G. M., Plasmati, R., Campagnolo, M., Castellani, F., Gasparotti, Roberto, Martinoli, C., Padua, Luca, Briani, C., Coraci D., Luigetti M. (ORCID:0000-0001-7539-505X), Gasparotti R., and Padua L. (ORCID:0000-0003-2570-9326)
Abstract: Background: Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers. Methods: Patients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers. Results: Sixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = − 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001). Conclusions: The present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi).
Published: 2020

30. Diffusion tensor imaging and voxel based morphometry study in early progressive supranuclear palsy

Author: Padovani, A., Borroni, B., Brambati, S.M., Agosti, C., Broli, M., Alonso, R., Scifo, P., Bellelli, G., Alberici, A., Gasparotti, R., and Perani, D.
Subjects: Progressive supranuclear palsy -- Physiological aspects, Progressive supranuclear palsy -- Research, Health, Psychology and mental health
Published: 2006

31. Clinical and radiological features of posterior cortical atrophy (PCA) in a GRN mutation carrier: a case report

Author: Giunta, M., primary, Libri, I., additional, Premi, E., additional, Brattini, C., additional, Paghera, B., additional, Archetti, S., additional, Gasparotti, R., additional, Padovani, A., additional, Borroni, B., additional, and Benussi, A., additional
Published: 2020
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32. Sex-specific associations between early-life exposure to manganese and white matter microstructure in adolescents and young adults

Author: Rechtman, E., primary, Curtin, P., additional, Papazaharias, D., additional, de Water, E., additional, Navarro, E., additional, Ambrosi, C., additional, Mascaro, L., additional, Gasparotti, R., additional, Austin, C., additional, Arora, M., additional, Smith, D.R., additional, Wright, R.O., additional, Tang, C.Y., additional, Lucchini, R.G., additional, and Horton, M.K., additional
Published: 2020
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33. Sex-specific associations between early life exposure to manganese and intrinsic functional connectivity of the brain in adolescents and young adults

Author: Rechtman, E., primary, Navarro, E., additional, de Water, E., additional, Papazaharias, D.M., additional, Curtin, P., additional, Ambrosi, C., additional, Mascaro, L., additional, Gasparotti, R., additional, Austin, C., additional, Arora, M., additional, Smith, D.R., additional, Wright, R.O., additional, Tang, C.Y., additional, Lucchini, R.G., additional, and Horton, M.K., additional
Published: 2020
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34. Functional and radiological outcomes after bridging therapy versus direct thrombectomy in stroke patients with unknown onset

Author: Cappellari, M., primary, Saia, V., additional, Pracucci, G., additional, Sallustio, F., additional, Gandini, R., additional, Nappini, S., additional, Nencini, P., additional, Vallone, S., additional, Zini, A., additional, Bigliardi, G., additional, Granata, F., additional, Grillo, F., additional, Cioni, S., additional, Tassi, R., additional, Bergui, M., additional, Cerrato, P., additional, Saletti, A., additional, De Vito, A., additional, Gasparotti, R., additional, Magoni, M., additional, Taglialatela, F., additional, Ruggiero, M., additional, Longoni, M., additional, Castellan, L., additional, Malfatto, L., additional, Menozzi, R., additional, Castellini, P., additional, Cosottini, M., additional, Mancuso, M., additional, Comai, A., additional, Franchini, E., additional, Lozupone, E., additional, Della Marca, G., additional, Ciceri, E. F. M., additional, Bonetti, B., additional, Zampieri, P., additional, Inzitari, D., additional, Mangiafico, S., additional, and Toni, D., additional
Published: 2020
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35. Steroid-responsive encephalitis in Covid-19 disease

Author: Pilotto, Andrea, primary, Odolini, Silvia, additional, Masciocchi S, Stefano, additional, Comelli, Agnese, additional, Volonghi, Irene, additional, Gazzina, Stefano, additional, Nocivelli, Sara, additional, Pezzini, Alessandro, additional, Focà, Emanuele, additional, Caruso, Arnaldo, additional, Leonardi, Matilde, additional, Pasolini, Maria Pia, additional, Gasparotti R, Roberto, additional, Castelli F, Francesco, additional, Ashton, Nicholas J., additional, Blennow, Kaj, additional, Zetterberg, Henrik, additional, and Padovani, Alessandro, additional
Published: 2020
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36. A challenging diagnosis of reversible “vascular” dementia: Cerebral amyloid angiopathy-related inflammation

Author: Poli, L., primary, De Giuli, V., additional, Piazza, F., additional, Volonghi, I., additional, Bigliardi, G., additional, Vallone, S., additional, Nichelli, P.F., additional, Gasparotti, R., additional, Zini, A., additional, Padovani, A., additional, and Pezzini, A., additional
Published: 2020
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37. Intra-arterial or intravenous thrombolysis for acute ischemic stroke? The SYNTHESIS pilot trial

Author: Ciccone, A, Valvassori, L, Ponzio, M, Ballabio, E, Gasparotti, R, Sessa, M, Scomazzoni, F, Tiraboschi, P, and Sterzi, R
Published: 2010
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38. Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers

Author: Giordano, L., Vignoli, A., Pinelli, L., Brancati, F., Accorsi, P., Faravelli, F., Gasparotti, R., Granata, T., Giaccone, G., Inverardi, F., Frassoni, C., Dallapiccola, B., Valente, E. M., and Spreafico, R.
Published: 2009
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39. Neurobiological and clinical effect of metacognitive interpersonal therapy vs structured clinical model: study protocol for a randomized controlled trial

Author: Magni, LAURA ROSA, Carcione, Antonino, Ferrari, Clarissa, Semerari, Antonio, Riccardi, Ilaria, Nicolo', Giuseppe, Lanfredi, Mariangela, Pedrini, Laura, Cotelli, Maria, Bocchio, Luisella, Pievani, Michela, Gasparotti, Roberto, Rossi, Roberta, Rossi, R, Magni, Lr, Lanfredi, M, Pedrini, L, Carcione, A, Semerari, A, Riccardi, I, Nicolo', G, Almici, M, Beneduce, R, Borsci, G, Caprioli, C, Nodari, M, Vita, A, Barlati, S, Laffranchini, L, Rillosi, L, Rossi, G, Bocchio, L, Cattaneo, A, Cattane, N, Tura, Gb, Bignotti, S, Speziali, M, Cotelli, M, Rosini, S, Gasparotti, R, Ambrosi, C, Mascaro, L, Corbo, D, Pievani, M, Quattrini, G, Bilotta, E, Colle, L, Conti, L, Fiore, D, Micheloni, A, Procacci, M, and Silvestre, V.
Subjects: Adult, Male, Adolescent, lcsh:RC435-571, Settore M-PSI/02 - PSICOBIOLOGIA E PSICOLOGIA FISIOLOGICA, medicine.medical_treatment, Neuroimaging, Impulsivity, law.invention, Study Protocol, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Alexithymia, law, Emotionality, lcsh:Psychiatry, mental disorders, medicine, Humans, 030212 general & internal medicine, Borderline personality disorder, Interpersonal Psychotherapy, Emotion dysregulation, Metacognition, Psychotherapy, business.industry, Borderline Personality Disorder, Female, Middle Aged, Treatment Outcome, medicine.disease, 030227 psychiatry, Clinical trial, Cognitive behavioral therapy, Psychiatry and Mental health, Adjunctive treatment, medicine.symptom, business, Clinical psychology
Abstract: Background Borderline Personality Disorder (BPD) is a complex and debilitating disorder, characterized by deficits in metacognition and emotion dysregulation. The “gold standard” treatment for this disorder is psychotherapy with pharmacotherapy as an adjunctive treatment to target state symptoms. The present randomized clinical trial aims to assess the clinical and neurobiological changes following Metacognitive Interpersonal Therapy (MIT) compared with Structured Clinical Management (SCM) derived from specific recommendations in APA (American Psychiatric Association) guidelines for BPD. Methods The study design is a randomized parallel controlled clinical trial and will include 80 BPD outpatients, aged 18–45 enrolled at 2 recruitment centers. Primary outcome will be the clinical change in emotion regulation capacities assessed with the Difficulties in Emotion Regulation Scale (DERS). We will also investigated the effect of psychotherapy on metacognitive abilities and several clinical features such as BPD symptomatology, general psychopathology, depression, personal functioning, and trait dimensions (anger, impulsivity, alexithymia). We will evaluate changes in brain connectivity patterns and during the view of emotional pictures. A multidimensional assessment will be performed at the baseline, at 6, 12, 18 months. We will obtain structural and functional Magnetic Resonance Images (MRIs) in MIT-Treated BPD (N = 30) and SCM-treated BPD (N = 30) at baseline and after treatment, as well as in a group of 30 healthy and unrelated volunteers that will be scanned once for comparison. Discussion The present study could contribute to elucidate the neurobiological mechanisms underlying psychotherapy efficacy. The inclusion of a multidisciplinary study protocol will allow to study BPD considering different features that can affect the treatment response and their reciprocal relationships. Trial registration NCT02370316. Registered 02/24/2015. Electronic supplementary material The online version of this article (10.1186/s12888-019-2127-2) contains supplementary material, which is available to authorized users.
Published: 2019
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40. PERINATAL OUTCOME AND NEUROLOGICAL FOLLOW UP OF TWIN PREGNANCIES COMPLICATED BY SINGLE FETAL INTRAUTERINE DEATH

Author: Fichera, A, Zambolo, C, Andrico, S, Minelli, A, Ambrosi, C, Gasparotti, R, Accorsi, P, and Frusca, T
Published: 2007

41. The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint

Author: Premi, E., Calhoun, V.D. (Vince), Diano, M., Gazzina, S., Cosseddu, M., Alberici, A., Archetti, S., Paternico, D., Gasparotti, R., Swieten, J.C. (John) van, Galimberti, D. (Daniela), Sánchez-Valle, R. (Raquel), Laforce, R, Moreno, F, Synofzik, M., Graff, M.J. (Maud J.L.), Masellis, M, Tartaglia, MC, Rowe, J. (Jacob), Vandenberghe, R. (Rik), Finger, E, Tagliavini, F, Mendonça, A., Santana, I., Butler, C, Ducharme, S., Gerhard, A, Danek, A, Levin, J. (Jonathan), Otto, M., Frisoni, G. (Giuseppe), Cappa, S., Sorbi, S. (Sandro), Padovani, A. (Alessandro), Rohrer, JD, Borroni, B. (Barbara), Premi, E., Calhoun, V.D. (Vince), Diano, M., Gazzina, S., Cosseddu, M., Alberici, A., Archetti, S., Paternico, D., Gasparotti, R., Swieten, J.C. (John) van, Galimberti, D. (Daniela), Sánchez-Valle, R. (Raquel), Laforce, R, Moreno, F, Synofzik, M., Graff, M.J. (Maud J.L.), Masellis, M, Tartaglia, MC, Rowe, J. (Jacob), Vandenberghe, R. (Rik), Finger, E, Tagliavini, F, Mendonça, A., Santana, I., Butler, C, Ducharme, S., Gerhard, A, Danek, A, Levin, J. (Jonathan), Otto, M., Frisoni, G. (Giuseppe), Cappa, S., Sorbi, S. (Sandro), Padovani, A. (Alessandro), Rohrer, JD, and Borroni, B. (Barbara)
Abstract: Frontotemporal Dementia (FTD) is preceded by a long period of subtle brain changes, occurring in the absence of overt cognitive symptoms, that need to be still fully characterized. Dynamic network analysis based on restingstate magnetic resonance imaging (rs-fMRI) is a potentially powerful tool for the study of preclinical FTD. In the present study, we employed a "chronnectome" approach (recurring, time-varying patterns of connectivity) to evaluate measures of dynamic connectivity in 472 at-risk FTD subjects from the Genetic Frontotemporal dementia research Initiative (GENFI) cohort. We considered 249 subjects with FTD-related pathogenetic mutations and 223 mutation non-carriers (HC). Dynamic connectivity was evaluated using independent component analysis and sliding-time window correlation to rs-fMRI data, and meta-state measures of global brain flexibility were extracted. Results show that presymptomatic FTD exhibits diminished dynamic fluidity, visiting less meta-states, shifting less often across them, and travelling through a narrowed meta-state distance, as compared to HC. Dynamic connectivity changes characterize preclinical FTD, arguing for the desynchronization of the inner fluctuations of the brain. These changes antedate clinical symptoms, and might represent an early signature of FTD to be used as a biomarker in clinical trials.
Published: 2019
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42. Pituitary adenomas and invasiveness from anatomo-surgical, radiological, and histological perspectives: A systematic literature review

Author: Serioli, S., Doglietto, Francesco, Fiorindi, A., Biroli, A., Mattavelli, D., Buffoli, B., Ferrari, M., Cornali, C., Rodella, L., Maroldi, R., Gasparotti, R., Nicolai, P., Maria Fontanella, M., Luigi Poliani, P., Doglietto F. (ORCID:0000-0002-7438-0734), Serioli, S., Doglietto, Francesco, Fiorindi, A., Biroli, A., Mattavelli, D., Buffoli, B., Ferrari, M., Cornali, C., Rodella, L., Maroldi, R., Gasparotti, R., Nicolai, P., Maria Fontanella, M., Luigi Poliani, P., and Doglietto F. (ORCID:0000-0002-7438-0734)
Abstract: Invasiveness in pituitary adenomas has been defined and investigated from multiple perspectives, with varying results when its predictive value is considered. A systematic literature review, following PRISMA guidelines, was performed, searching PubMed and Scopus databases with terms that included molecular markers, histological, radiological, anatomical and surgical data on invasiveness of pituitary adenomas. The results showed that differing views are still present for anatomical aspects of the sellar region that are relevant to the concept of invasiveness; radiological and histological diagnoses are still limited, but might improve in the future, especially if they are related to surgical findings, which have become more accurate thanks to the introduction of the endoscope. The aim is to achieve a correct distinction between truly invasive pituitary adenomas from those that, in contrast, present with extension in the parasellar area through natural pathways. At present, diagnosis of invasiveness should be based on a comprehensive analysis of radiological, intraoperative and histological findings.
Published: 2019

43. The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint

Author: Premi, E, Calhoun, VD, Diano, M, Gazzina, S, Cosseddu, M, Alberici, A, Archetti, S, Paternico, D, Gasparotti, R, van Swieten, J.C., Galimberti, D, Sanchez-Valle, R, Laforce, R, Moreno, F, Synofzik, M, Graff, C, Masellis, M, Tartaglia, MC, Rowe, J, Vandenberghe, R, Finger, E, Tagliavini, F, De Mendonca, A, Santana, I, Butler, C, Ducharme, S, Gerhard, A, Danek, A, Levin, J, Otto, M, Frisoni, G, Cappa, S, Sorbi, S, Padovani, A, Rohrer, JD, Borroni, B, Premi, E, Calhoun, VD, Diano, M, Gazzina, S, Cosseddu, M, Alberici, A, Archetti, S, Paternico, D, Gasparotti, R, van Swieten, J.C., Galimberti, D, Sanchez-Valle, R, Laforce, R, Moreno, F, Synofzik, M, Graff, C, Masellis, M, Tartaglia, MC, Rowe, J, Vandenberghe, R, Finger, E, Tagliavini, F, De Mendonca, A, Santana, I, Butler, C, Ducharme, S, Gerhard, A, Danek, A, Levin, J, Otto, M, Frisoni, G, Cappa, S, Sorbi, S, Padovani, A, Rohrer, JD, and Borroni, B
Published: 2019

44. IER-SICH Nomogram to Predict Symptomatic Intracerebral Hemorrhage After Thrombectomy for Stroke

Author: Cappellari, M., Mangiafico, S., Saia, V., Pracucci, G., Nappini, S., Nencini, P., Konda, D., Sallustio, F., Vallone, S., Zini, A., Bracco, S., Tassi, R., Bergui, M., Cerrato, P., Pitrone, A., Grillo, F., Saletti, A., De Vito, A., Gasparotti, Roberto, Magoni, M., Puglielli, E., Casalena, A., Causin, F., Baracchini, C., Castellan, L., Malfatto, L., Menozzi, R., Scoditti, U., Comelli, C., Duc, E., Comai, A., Franchini, E., Cosottini, M., Mancuso, M., Peschillo, S., De Michele, M., Giorgianni, A., Delodovici, M. L., Lafe, E., Denaro, M. F., Burdi, N., Interno, S., Cavasin, N., Critelli, A., Chiumarulo, L., Petruzzellis, M., Doddi, M., Carolei, A., Auteri, W., Petrone, A., Padolecchia, R., Tassinari, T., Pavia, M., Invernizzi, P., Turcato, G., Forlivesi, S., Ciceri, E. F. M., Bonetti, B., Inzitari, D., Toni D., Limbucci N, Consoli, A, Renieri, L, Fainardi, E, Gandini, R, Pampana, E, Diomedi, M, Koch, G, Verganti, L, Sacchetti, F, Zelent, G, Bigliardi, G, Picchetto, L, Vandelli, L, Romano, Dg, Cioni, S, Gennari, P, Cerase, A, Martini, G, Stura, G, Daniele, D, Naldi, A, Papa, R, Vinci, Sl, Bernava, G, Velo, M, Caragliano, A, Tessitore, A, Buonomo, O, Musolino, R, La Spina, P, Casella, C, Carolina Fazio, M, Cotroneo, M, Onofrio, M, Azzini, C, Casetta, I, Mardighian, D, Frigerio, M, Costa, A, Di Egidio, V, Lattanzi, R, Assetta, M, Cester, G, Mavilio, N, Serrati, C, Piazza, P, Epifani, E, Andreone, A, Castellini, P, Latte, L, Grisendi, I, Vaudano, G, Comelli, S, Cavallo, R, Chianale, G, Simonetti, L, Taglialatela, F, Isceri, S, Procaccianti, G, Zaniboni, A, Borghi, A, Bonatti, G, Ferro, F, Bonatti, M, Dall'Ora, E, Currò Dossi, R, Turri, E, Turri, M, Puglioli, M, Lazzarotti, G, Lauretti, D, Giannini, N, Maccarone, M, Orlandi, G, Chiti, A, Guidetti, G, Biraschi, F, Falcou, A, Anzini, A, Mancini, A, Fausti, S, Di Mascio, Mt, Durastanti, L, Sbardella, E, Mellina, V, Baruzzi, F, Pellegrino, C, Terrana, A, Carimati, F, Ruggiero, M, Sanna, A, Passarin, Mg, Colosimo, C, Pedicelli, A, D'Argento, F, Alexandre, A, Frisullo, G, Zappoli, F, Martignoni, A, Cavallini, A, Persico, A, Valvassori, L, Piano, M, Agostoni, E, Motto, C, Gatti, A, Longoni, M, Guccione, A, Tortorella, R, Zampieri, P, Zimatore, D, Grazioli, A, Ricciardi, Gk, Augelli, R, Bovi, P, Tomelleri, G, Micheletti, N, Semeraro, V, Lucarelli, N, Ganimede, M, Tinelli, A, Pia Prontera, M, Pesare, A, Cagliari, E, Quatrale, R, Federico, F, Passalacqua, G, Filauri, P, Orlandi, B, De Santis, F, Gabriele, A, Tiseo, C, Armentano, A, Di Benedetto, O, Silvagni, U, Perrotta, P, Crispino, E, Stancati, F, Rizzuto, S, Pugliese, P, Pisani, E, Siniscalchi, A, Gaudiano, C, Pirritano, D, Del Giudice, F, Calia, S, Ganci, G, Sugo, A, Scomazzoni, F, Simionato, F, Roveri, L, De Nicola, M, Giannoni, M, Bruni, S, Gambelli, E, Provinciali, L, Carriero, A, Coppo, L, Baldan, J, Paolo Nuzzi, N, Marcheselli, S, Corato, M, Cotroneo, E, Ricciardi, F, Gigli, R, Pozzessere, C, Pezzella, Fr, Corsi, F, Squassina, G, Cobelli, M, Morassi, M, Magni, Eugenio, Pepe, F, Bigni, B, Costa, P, Crabbio, M, Griffini, S, Palmerini, F, Piras, Mp, Natrella, M, Fanelli, G, Cristoferi, M, Bottacchi, E, Corso, G, Tosi, P, Amistà, P, Russo, M, Tettoni, S, Gallesio, I, Mascolo, Mc, Meloni, Gb, Fabio, C, Maiore, M, Pintus, F, Pischedda, A, Manca, A, Mongili, C, Zanda, B, Baule, A, Pappalardo, Mp, Craparo, G, Gallo, C, Monaco, S, Mannino, M, Terruso, V, Muto, M, Guarnieri, G, Andreone, V, Dui, G, Ticca, A, Salmaggi, A, Iannucci, G, Pinna, V, Di Clemente, L, Perini, F, De Boni, A, De Luca, C, De Giorgi, F, Corraine, S, Enne, P, Ganau, C, Piras, V., Gasparotti R., Magni E (ORCID:0000-0002-2235-2280), Cappellari, M., Mangiafico, S., Saia, V., Pracucci, G., Nappini, S., Nencini, P., Konda, D., Sallustio, F., Vallone, S., Zini, A., Bracco, S., Tassi, R., Bergui, M., Cerrato, P., Pitrone, A., Grillo, F., Saletti, A., De Vito, A., Gasparotti, Roberto, Magoni, M., Puglielli, E., Casalena, A., Causin, F., Baracchini, C., Castellan, L., Malfatto, L., Menozzi, R., Scoditti, U., Comelli, C., Duc, E., Comai, A., Franchini, E., Cosottini, M., Mancuso, M., Peschillo, S., De Michele, M., Giorgianni, A., Delodovici, M. L., Lafe, E., Denaro, M. F., Burdi, N., Interno, S., Cavasin, N., Critelli, A., Chiumarulo, L., Petruzzellis, M., Doddi, M., Carolei, A., Auteri, W., Petrone, A., Padolecchia, R., Tassinari, T., Pavia, M., Invernizzi, P., Turcato, G., Forlivesi, S., Ciceri, E. F. M., Bonetti, B., Inzitari, D., Toni D., Limbucci N, Consoli, A, Renieri, L, Fainardi, E, Gandini, R, Pampana, E, Diomedi, M, Koch, G, Verganti, L, Sacchetti, F, Zelent, G, Bigliardi, G, Picchetto, L, Vandelli, L, Romano, Dg, Cioni, S, Gennari, P, Cerase, A, Martini, G, Stura, G, Daniele, D, Naldi, A, Papa, R, Vinci, Sl, Bernava, G, Velo, M, Caragliano, A, Tessitore, A, Buonomo, O, Musolino, R, La Spina, P, Casella, C, Carolina Fazio, M, Cotroneo, M, Onofrio, M, Azzini, C, Casetta, I, Mardighian, D, Frigerio, M, Costa, A, Di Egidio, V, Lattanzi, R, Assetta, M, Cester, G, Mavilio, N, Serrati, C, Piazza, P, Epifani, E, Andreone, A, Castellini, P, Latte, L, Grisendi, I, Vaudano, G, Comelli, S, Cavallo, R, Chianale, G, Simonetti, L, Taglialatela, F, Isceri, S, Procaccianti, G, Zaniboni, A, Borghi, A, Bonatti, G, Ferro, F, Bonatti, M, Dall'Ora, E, Currò Dossi, R, Turri, E, Turri, M, Puglioli, M, Lazzarotti, G, Lauretti, D, Giannini, N, Maccarone, M, Orlandi, G, Chiti, A, Guidetti, G, Biraschi, F, Falcou, A, Anzini, A, Mancini, A, Fausti, S, Di Mascio, Mt, Durastanti, L, Sbardella, E, Mellina, V, Baruzzi, F, Pellegrino, C, Terrana, A, Carimati, F, Ruggiero, M, Sanna, A, Passarin, Mg, Colosimo, C, Pedicelli, A, D'Argento, F, Alexandre, A, Frisullo, G, Zappoli, F, Martignoni, A, Cavallini, A, Persico, A, Valvassori, L, Piano, M, Agostoni, E, Motto, C, Gatti, A, Longoni, M, Guccione, A, Tortorella, R, Zampieri, P, Zimatore, D, Grazioli, A, Ricciardi, Gk, Augelli, R, Bovi, P, Tomelleri, G, Micheletti, N, Semeraro, V, Lucarelli, N, Ganimede, M, Tinelli, A, Pia Prontera, M, Pesare, A, Cagliari, E, Quatrale, R, Federico, F, Passalacqua, G, Filauri, P, Orlandi, B, De Santis, F, Gabriele, A, Tiseo, C, Armentano, A, Di Benedetto, O, Silvagni, U, Perrotta, P, Crispino, E, Stancati, F, Rizzuto, S, Pugliese, P, Pisani, E, Siniscalchi, A, Gaudiano, C, Pirritano, D, Del Giudice, F, Calia, S, Ganci, G, Sugo, A, Scomazzoni, F, Simionato, F, Roveri, L, De Nicola, M, Giannoni, M, Bruni, S, Gambelli, E, Provinciali, L, Carriero, A, Coppo, L, Baldan, J, Paolo Nuzzi, N, Marcheselli, S, Corato, M, Cotroneo, E, Ricciardi, F, Gigli, R, Pozzessere, C, Pezzella, Fr, Corsi, F, Squassina, G, Cobelli, M, Morassi, M, Magni, Eugenio, Pepe, F, Bigni, B, Costa, P, Crabbio, M, Griffini, S, Palmerini, F, Piras, Mp, Natrella, M, Fanelli, G, Cristoferi, M, Bottacchi, E, Corso, G, Tosi, P, Amistà, P, Russo, M, Tettoni, S, Gallesio, I, Mascolo, Mc, Meloni, Gb, Fabio, C, Maiore, M, Pintus, F, Pischedda, A, Manca, A, Mongili, C, Zanda, B, Baule, A, Pappalardo, Mp, Craparo, G, Gallo, C, Monaco, S, Mannino, M, Terruso, V, Muto, M, Guarnieri, G, Andreone, V, Dui, G, Ticca, A, Salmaggi, A, Iannucci, G, Pinna, V, Di Clemente, L, Perini, F, De Boni, A, De Luca, C, De Giorgi, F, Corraine, S, Enne, P, Ganau, C, Piras, V., Gasparotti R., and Magni E (ORCID:0000-0002-2235-2280)
Abstract: Background and Purpose - As a reliable scoring system to detect the risk of symptomatic intracerebral hemorrhage after thrombectomy for ischemic stroke is not yet available, we developed a nomogram for predicting symptomatic intracerebral hemorrhage in patients with large vessel occlusion in the anterior circulation who received bridging of thrombectomy with intravenous thrombolysis (training set), and to validate the model by using a cohort of patients treated with direct thrombectomy (test set). Methods - We conducted a cohort study on prospectively collected data from 3714 patients enrolled in the IER (Italian Registry of Endovascular Stroke Treatment in Acute Stroke). Symptomatic intracerebral hemorrhage was defined as any type of intracerebral hemorrhage with increase of ≥4 National Institutes of Health Stroke Scale score points from baseline ≤24 hours or death. Based on multivariate logistic models, the nomogram was generated. We assessed the discriminative performance by using the area under the receiver operating characteristic curve. Results - National Institutes of Health Stroke Scale score, onset-to-end procedure time, age, unsuccessful recanalization, and Careggi collateral score composed the IER-SICH nomogram. After removing Careggi collateral score from the first model, a second model including Alberta Stroke Program Early CT Score was developed. The area under the receiver operating characteristic curve of the IER-SICH nomogram was 0.778 in the training set (n=492) and 0.709 in the test set (n=399). The area under the receiver operating characteristic curve of the second model was 0.733 in the training set (n=988) and 0.685 in the test set (n=779). Conclusions - The IER-SICH nomogram is the first model developed and validated for predicting symptomatic intracerebral hemorrhage after thrombectomy. It may provide indications on early identification of patients for more or less postprocedural intensive management.
Published: 2019

45. Neurobiological and clinical effect of metacognitive interpersonal therapy vs structured clinical model: study protocol for a randomized controlled trial

Author: Magni, L. R., Carcione, A., Ferrari, C., Semerari, A., Riccardi, I., Nicolo, G., Lanfredi, M., Pedrini, L., Cotelli, M., Bocchio, L., Pievani, M., Gasparotti, R., Rossi, R., Almici, M., Beneduce, R., Borsci, G., Caprioli, C., Nodari, M., Vita, A., Barlati, S., Laffranchini, L., Rillosi, L., Rossi, G., Cattaneo, A., Cattane, N., Tura, G. B., Bignotti, S., Speziali, M., Rosini, S., Ambrosi, C., Mascaro, L., Corbo, D., Quattrini, G., Bilotta, E., Colle, L., Conti, L., Fiore, D., Micheloni, A., Procacci, M., Silvestre, V., Cotelli M., Magni, L. R., Carcione, A., Ferrari, C., Semerari, A., Riccardi, I., Nicolo, G., Lanfredi, M., Pedrini, L., Cotelli, M., Bocchio, L., Pievani, M., Gasparotti, R., Rossi, R., Almici, M., Beneduce, R., Borsci, G., Caprioli, C., Nodari, M., Vita, A., Barlati, S., Laffranchini, L., Rillosi, L., Rossi, G., Cattaneo, A., Cattane, N., Tura, G. B., Bignotti, S., Speziali, M., Rosini, S., Ambrosi, C., Mascaro, L., Corbo, D., Quattrini, G., Bilotta, E., Colle, L., Conti, L., Fiore, D., Micheloni, A., Procacci, M., Silvestre, V., and Cotelli M.
Abstract: Background: Borderline Personality Disorder (BPD) is a complex and debilitating disorder, characterized by deficits in metacognition and emotion dysregulation. The "gold standard" treatment for this disorder is psychotherapy with pharmacotherapy as an adjunctive treatment to target state symptoms. The present randomized clinical trial aims to assess the clinical and neurobiological changes following Metacognitive Interpersonal Therapy (MIT) compared with Structured Clinical Management (SCM) derived from specific recommendations in APA (American Psychiatric Association) guidelines for BPD. Methods: The study design is a randomized parallel controlled clinical trial and will include 80 BPD outpatients, aged 18-45 enrolled at 2 recruitment centers. Primary outcome will be the clinical change in emotion regulation capacities assessed with the Difficulties in Emotion Regulation Scale (DERS). We will also investigated the effect of psychotherapy on metacognitive abilities and several clinical features such as BPD symptomatology, general psychopathology, depression, personal functioning, and trait dimensions (anger, impulsivity, alexithymia). We will evaluate changes in brain connectivity patterns and during the view of emotional pictures. A multidimensional assessment will be performed at the baseline, at 6, 12, 18 months. We will obtain structural and functional Magnetic Resonance Images (MRIs) in MIT-Treated BPD (N = 30) and SCM-treated BPD (N = 30) at baseline and after treatment, as well as in a group of 30 healthy and unrelated volunteers that will be scanned once for comparison. Discussion: The present study could contribute to elucidate the neurobiological mechanisms underlying psychotherapy efficacy. The inclusion of a multidisciplinary study protocol will allow to study BPD considering different features that can affect the treatment response and their reciprocal relationships. Trial registration: NCT02370316. Registered 02/24/2015.
Published: 2019

46. Giant congenital nevus and chronic progressive ascending hemiparesis (Mills syndrome). Report of a case

Author: Frisoni G. B., Gasparotti R., and Di Monda V.
Published: 1992
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47. 245. A protocol set-up for fast brain T1 mapping of subcortical tissues

Author: Belligotti, E., primary, Mascaro, L., additional, Ambrosi, C., additional, Pinardi, C., additional, Reali, M., additional, Lucchini, R., additional, Tang, C. Ying, additional, and Gasparotti, R., additional
Published: 2018
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48. 22. Multicentric test-retest reproducibility of human hippocampal volumes with FreeSurfer 6.0: A comparison between standard and longitudinal hippocampal subfields segmentation streams applied to 3D T1, 3D FLAIR and high-resolution 2D T2 neuroimaging

Author: Chiappiniello, A., primary, Tarducci, R., additional, Muscio, C., additional, Frisoni, G.B., additional, Bruzzone, M.G., additional, Bozzali, M., additional, Perani, D., additional, Tiraboschi, P., additional, Nigri, A., additional, Ambrosi, C., additional, Caulo, M., additional, Chipi, E., additional, Chiti, S., additional, Fainardi, E., additional, Ferraro, S., additional, Festari, C., additional, Gasparotti, R., additional, Ginestroni, A., additional, Giulietti, G., additional, Mascaro, L., additional, Navarra, R., additional, Nicolosi, V., additional, Parnetti, L., additional, Rosazza, C., additional, Serra, L., additional, Tagliavini, F., additional, and Jovicich, J., additional
Published: 2018
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49. 243. Performance comparison of head RF multicoil array: What are the advantages of increasing coil numbers?

Author: Mascaro, L., primary, Ambrosi, C., additional, Pinardi, C., additional, Belligotti, E., additional, Moretti, R., additional, Forcella, F.G., additional, and Gasparotti, R., additional
Published: 2018
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50. Ischaemic pontomedullary transection with incomplete locked-in syndrome: A case report with MRI

Author: Latronico, N., Tansini, A., Gualandi, G. F., Gasparotti, R., Bochicchio, M., Chiesa, A., and Candiani, A.
Published: 1993
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