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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. 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

5. 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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6. 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

7. 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

8. 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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9. 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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10. 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

11. 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

12. 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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13. 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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14. 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

15. 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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16. 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

17. 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

18. 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

19. 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

20. 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

21. 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

23. 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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24. 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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25. 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

26. 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

27. 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

28. 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

30. Persisting embryonal infundibular Recess (PEIR): Two case reports and systematic literature review

Author

Belotti, F., Lupi, I., Cosottini, M., Ambrosi, C., Gasparotti, R., Bogazzi, F., Fontanella, Marco Maria, Doglietto, Francesco, Fontanella M. M., Doglietto F. (ORCID:0000-0002-7438-0734), Belotti, F., Lupi, I., Cosottini, M., Ambrosi, C., Gasparotti, R., Bogazzi, F., Fontanella, Marco Maria, Doglietto, Francesco, Fontanella M. M., and Doglietto F. (ORCID:0000-0002-7438-0734)

Abstract

Context The persisting embryonal infundibular recess (PEIR) is a rare anomaly of the floor of the third ventricle with a debated pathogenesis. It can be a cause of misdiagnosis in the case of cystic lesions of the sellar and suprasellar area. Objective To describe two recently evaluated cases and provide a systematic literature review. Evidence Acquisition and Case Descriptions PEIR has been previously reported in six adult patients. Because in some cases it was associated with hydrocephalus and/or empty sella, a possible role of altered intracranial pressure in PEIR formation has been postulated. We evaluated two female patients, aged 34 and 50 years, referred to the Pituitary Surgery Clinic of the University of Brescia with the diagnosis of a sellar cyst and craniopharyngioma, respectively. Endocrine screening and visual field testing were normal. No signs of hydrocephalus or empty sella, as well as other indirect signs of intracranial hypertension, were visible on MRI scans. After a multidisciplinary reevaluation, diagnosis of PEIR was made in both cases. Both patients are followed but have not developed any disturbance related to the PEIR in the following 18 months. Conclusions PEIR is a rare condition, probably unrecognized and the result of dysembriogenesis, which should be included in the differential diagnosis of cystic sellar lesions. Imaging features (funnel pituitary stalk and cyst in the sella) appear pathognomonic. A normal endocrine evaluation might help in the diagnosis and warrants conservative treatment.

Published
2018

31. Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: A GENFI study

Author

Premi, E. (Enrico), Grassi, M. (Mario), Swieten, J.C. (John) van, Galimberti, D. (Daniela), Graff, C. (Caroline), Masellis, M. (Mario), Tartaglia, C. (Carmela), Tagliavini, F. (Fabrizio), Rowe, J.B. (James), Laforce, R. (Robert), Finger, E. (Elizabeth), Frisoni, G.B. (Giovanni B.), De Mendonça, A. (Alexandre), Sorbi, S. (Sandro), Gazzina, S. (Stefano), Cosseddu, M. (Maura), Archetti, S. (Silvana), Gasparotti, R. (Roberto), Manes, M. (Marta), Alberici, P. (Paola), Cardoso, M.J. (Manuel Jorge), Bocchetta, M. (Martina), Cash, D.M. (David M.), Ourselin, S. (Sebastien), Padovani, A. (Alessandro), Rohrer, J.D. (Jonathan), Borroni, B. (Barbara), Premi, E. (Enrico), Grassi, M. (Mario), Swieten, J.C. (John) van, Galimberti, D. (Daniela), Graff, C. (Caroline), Masellis, M. (Mario), Tartaglia, C. (Carmela), Tagliavini, F. (Fabrizio), Rowe, J.B. (James), Laforce, R. (Robert), Finger, E. (Elizabeth), Frisoni, G.B. (Giovanni B.), De Mendonça, A. (Alexandre), Sorbi, S. (Sandro), Gazzina, S. (Stefano), Cosseddu, M. (Maura), Archetti, S. (Silvana), Gasparotti, R. (Roberto), Manes, M. (Marta), Alberici, P. (Paola), Cardoso, M.J. (Manuel Jorge), Bocchetta, M. (Martina), Cash, D.M. (David M.), Ourselin, S. (Sebastien), Padovani, A. (Alessandro), Rohrer, J.D. (Jonathan), and Borroni, B. (Barbara)

Abstract

Frontotemporal dementia is a heterogeneous neurodegenerative disorder with around a third of cases having autosomal dominant inheritance. There is wide variability in phenotype even within affected families, raising questions about the determinants of the progression of disease and age at onset. It has been recently demonstrated that cognitive reserve, as measured by years of formal schooling, can counteract the ongoing pathological process. The TMEM106B genotype has also been found to be a modifier of the age at disease onset in frontotemporal dementia patients with TDP-43 pathology. This study therefore aimed to elucidate the modulating effect of environment (i.e. cognitive reserve as measured by educational attainment) and genetic background (i.e. TMEM106B polymorphism, rs1990622 T/C) on grey matter volume in a large cohort of presymptomatic subjects bearing frontotemporal dementia-related pathogenic mutations. Two hundred and thirty-one participants from the GENFI study were included: 108 presymptomatic MAPT, GRN, and C9orf72 mutation carriers and 123 non-carriers. For each subject, cortical and subcortical grey matter volumes were generated using a parcellation of the volumetric T1-weighted magnetic resonance imaging brain scan. TMEM106B genotyping was carried out, and years of education recorded. First, we obtained a composite measure of grey matter volume by graph-Laplacian principal component analysis, and then fitted a linear mixed-effect interaction model, considering the role of (i) genetic status; (ii) educational attainment; and (iii) TMEM106B genotype on grey matter volume. The presence of a mutation was associated with a lower grey matter volume (P = 0.002), even in presymptomatic subjects. Education directly affected grey matter volume in all the samples (P = 0.02) with lower education attainment being associated with lower volumes. TMEM106B genotype did not influence grey matter volume directly on its own but in mutation carriers it modulated the sl

Published
2017
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32. Functional connectivity networks in asymptomatic and symptomatic DYT1 carriers

Author

Premi, E, Diano, Matteo, Gazzina, S, Cauda, Franco, Gualeni, V, Tinazzi, M, Fiorio, M, Liberini, P, Lazzarini, C, Archetti, S, Biasiotto, G, Turla, M, Bertasi, V, Cotelli, M, Gasparotti, R, Padovani, A, and Borroni, B.

Subjects
Adult, Cerebral Cortex, Male, Heterozygote, resting-state functional connectivity, Dystonia Musculorum Deformans, DYT1, Middle Aged, Magnetic Resonance Imaging, Connectome, Humans, Female, dystonia, dual regression, Molecular Chaperones
Abstract

DYT1 mutation is characterized by focal to generalized dystonia and incomplete penetrance. To explore the complex perturbations in the different neural networks and the mutual interactions among them, we studied symptomatic and asymptomatic DTY1 mutation carriers by resting-state functional MRI.A total of 7 symptomatic DYT1, 10 asymptomatic DYT1, and 26 healthy controls were considered. Resting-state functional MRI (Oxford Centre for Functional MRI of the Brain) [FMRIB] Software Library) (FSL) MELODIC, dual regression, (as a toolbox of FSL, with Nets is referred to "networks") (FSLNets) (http://fsl.fmrib.ox.ac.uk/fsl/fslwiki/FSLNets) was performed on 9 resting-state neural networks.DYT1 mutation signature (symptomatic DYT1 and asymptomatic DYT1) was characterized by increased connectivity in the dorsal attention network and in the left fronto-parietal network. Functional correlates of symptomatic DYT1 patients (symptomatic DYT1 vs healthy controls) showed increased connectivity in the sensorimotor network.This study argues that DYT1 dystonia is a network disorder, with crucial nodes in sensory-motor integration of posterior parietal structures. A better characterization of cortical networks involved in dystonia is crucial for possible neurophysiological therapeutic interventions. © 2016 International Parkinson and Movement Disorder Society.

Published
2016

33. Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Author

Briguglio, Marilena, Pinelli, L., Giordano, L., Ferraris, A., Germano', Eva, Micheletti, S., Severino, M. S., Bernardini, L., Loddo, S., Tortorella, Gaetano, Ormitti, F., Gasparotti, R., Borgatti, R., Romaniello, R., Arrigoni, F., Accorsi, P., Galil, J, Biancheri, R., Mirabelli, M., D’Amico, A., Del Giudice, E., Amorini, M., Briuglia, Silvana, Gallizzi, Romina, Gagliano, Antonella, La Torre, A., SALPIETRO DAMIANO, Carmelo, Chiapparini, L., D’Arrigo, S., Pantaleoni, C., Fiocchi, I., Triulzi, F., Pichiecchio, A., Signorini, S., Battini, R., Casarano, M., Di Sabato, M. L., Leuzzi, V., Bertini, E., Colafati, S., Zanni, G., Fazzi, E., Mercuri, E., Vitiello, G., Romani, M., Micalizzi, A., Simonati, A., Rossi, A., Valente, E. M., Briguglio, M, Pinelli, L, Giordano, L, Ferraris, A, Germanò, E, Micheletti, S, Severino, M, Bernardini, L, Loddo, S, Tortorella, G, Ormitti, F, Gasparotti, R, Rossi, A, Valente, Em, CBCD Study, Group, and DEL GIUDICE, Ennio

Subjects
Decussation, Male, Pediatrics, medicine.medical_specialty, Adolescent, Diffusion Tensor Tractography, lcsh:Medicine, Case Report, Nervous System Malformations, Adolescent age, spectrum, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, children, Swallowing, pontine tegmental cap dysplasia, magnetic resonance imaging, medicine, Pedunculopontine Tegmental Nucleus, Humans, Genetics(clinical), PTCD, Pharmacology (medical), Neuropsychological assessment, disorders, Genetics (clinical), Cognitive deficit, Medicine(all), Pontine Tegmental Cap Dysplasia, brainstem malformation, cerebellar malformation, medicine.diagnostic_test, business.industry, lcsh:R, Cognition, General Medicine, Diffusion Tensor Imaging, Malformations, hindbrain, Pontine tegmental cap dysplasia, Female, Brainstem, medicine.symptom, business, 030217 neurology & neurosurgery, Tractography
Abstract

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce. Here we describe three adolescent patients with PTCD. All presented bilateral deafness and multiple cranial neuropathies, variably associated with skeletal, cardiac and gastro-intestinal malformations. Feeding and swallowing difficulties, that are often causative of recurrent aspiration pneumonias and death in the first years of life, completely resolved with age in all three patients. Neuropsychological assessment showed borderline to moderate cognitive impairment, with delay in adaptive functioning, visual-spatial and language deficits. Two of three patients also showed mild behavioural problems, although their overall socialization abilities were well preserved. Cochlear implantation in two patients significantly improved their relational and learning abilities. Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration. These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech.

Published
2011

39. Endovascular Treatment for Acute Ischemic Stroke

Author

Ciccone, A, Valvassori, L, Nichelatti, M, Sgoifo, A, Ponzio, M, Sterzi, R, Boccardi, E, SYNTHESIS Expansion Investigators: Gatti, A, Guccione, A, Motto, C, Santilli, I, Tortorella, R, Ferrante, E, Imbesi, F, Marazzi, R, Jann, S, Protti, A, Rizzone, M, Tiraboschi, P, Pero, G, Quilici, L, Piano, M, Zini, A, Casoni, F, Cavazzuti, M, Falzone, F, Nichelli, P, Vallone, S, Carpeggiani, P, Menetti, F, Guidotti, M, Checcarelli, N, Muscia, F, Martegani, A, Torgano, G, Mandelli, C, Zecca, B, Baron, P, Bersano, A, Branca, V, Isalberti, M, Papa, R, Paolucci, A, Magoni, M, Costa, A, Gamba, M, Gasparotti, R, Federico, F, Petruzzellis, M, Tartaglione, B, Mezzapesa, D, Chiumarulo, L, De Blasi, R, Agostoni, E, Botto, E, Longoni, M, Ballarini, V, Reganati, P, Malfatto, L, Rizzi, D, Serrati, C, Balestrino, M, Gandolfo, C, Castellan, L, Mavilio, N, Allegretti, L, Delodovici, Ml, Carimati, F, Verrengia, Ep, Bono, G, Perlasca, F, Craparo, G, Giorgianni, A, Azzini, C, De Vito, A, Tola, M, Saletti, A, Pozzessere, C, Corsi, F, Scifoni, G, Anticoli, S, Pezzella, Fr, Cotroneo, E, Gigli, R, Nencini, P, Palumbo, V, Pantoni, L, Inzitari, D, Mangiafico, S, Chinaglia, M, Russo, M, L'Erario, R, Amistà, P, Malferrari, G, Nucera, A, Zedde, Ml, Dallari, A, Deberti, G, Falaschi, F, Martignoni, A, Zappoli, F, Marcheselli, S, Stival, B, Presbitero, P, Rossi, Ml, Belli, G, Paciaroni, M, Caso, V, Agnelli, Gc, Hamam, M, Bovi, P, Piovan, Enrico, Sessa, M, Scomazzoni, F, Arnaboldi, M, Tancredi, L, Peroni, R, Censori, B, Poloni, M, Lunghi, S, Bonaldi, G, Donati, E, Magni, E, Pavia, M, Cobelli, M, Bottacchi, E, Corso, G, Tosi, P, Cordera, S, Di Giovanni, M, Giardini, G, Meloni, T, Cristoferi, M, Natrella, M, Ruiz, L, Dell'Acqua, Ml, Rolandi, G, Gallesio, I, Sandercock, P, Candelise, L, del Zoppo, G, Ciceri, E, Doneda, P, Daolio, M, Caputo, D, del Zotto, E, Cantisani, T., Ciccone, A, Valvassori, L, Nichelatti, M, Sgoifo, M, Ponzio, M, Sterzi, R, Boccardi, E, and Comi, Giancarlo

Subjects
Adult, Male, OCCLUSION, Psychoanalysis, RECANALIZATION, Neuroimaging, Article, law.invention, Brain Ischemia, TISSUE-PLASMINOGEN-ACTIVATOR, Randomized controlled trial, Fibrinolytic Agents, law, Case fatality rate, medicine, Humans, Single-Blind Method, PROUROKINASE, cardiovascular diseases, Adverse effect, Infusions, Intravenous, Stroke, Aged, Cerebral Hemorrhage, Thrombectomy, business.industry, Standard treatment, Endovascular Procedures, TISSUE-PLASMINOGEN-ACTIVATOR, CEREBRAL-ARTERY STROKE, RANDOMIZED-TRIAL, INTRAARTERIAL THROMBOLYSIS, INTRAVENOUS THROMBOLYSIS, OCCLUSION, REVASCULARIZATION, RECANALIZATION, PROUROKINASE, THROMBECTOMY, Atrial fibrillation, General Medicine, Odds ratio, Middle Aged, medicine.disease, INTRAARTERIAL THROMBOLYSIS, Combined Modality Therapy, RANDOMIZED-TRIAL, Cerebral Angiography, Treatment Outcome, Anesthesia, Tissue Plasminogen Activator, Acute Disease, REVASCULARIZATION, Female, INTRAVENOUS THROMBOLYSIS, CEREBRAL-ARTERY STROKE, business, Fibrinolytic agent
Abstract

In patients with ischemic stroke, endovascular treatment results in a higher rate of recanalization of the affected cerebral artery than systemic intravenous thrombolytic therapy. However, comparison of the clinical efficacy of the two approaches is needed.We randomly assigned 362 patients with acute ischemic stroke, within 4.5 hours after onset, to endovascular therapy (intraarterial thrombolysis with recombinant tissue plasminogen activator [t-PA], mechanical clot disruption or retrieval, or a combination of these approaches) or intravenous t-PA. Treatments were to be given as soon as possible after randomization. The primary outcome was survival free of disability (defined as a modified Rankin score of 0 or 1 on a scale of 0 to 6, with 0 indicating no symptoms, 1 no clinically significant disability despite symptoms, and 6 death) at 3 months.A total of 181 patients were assigned to receive endovascular therapy, and 181 intravenous t-PA. The median time from stroke onset to the start of treatment was 3.75 hours for endovascular therapy and 2.75 hours for intravenous t-PA (P0.001). At 3 months, 55 patients in the endovascular-therapy group (30.4%) and 63 in the intravenous t-PA group (34.8%) were alive without disability (odds ratio adjusted for age, sex, stroke severity, and atrial fibrillation status at baseline, 0.71; 95% confidence interval, 0.44 to 1.14; P=0.16). Fatal or nonfatal symptomatic intracranial hemorrhage within 7 days occurred in 6% of the patients in each group, and there were no significant differences between groups in the rates of other serious adverse events or the case fatality rate.The results of this trial in patients with acute ischemic stroke indicate that endovascular therapy is not superior to standard treatment with intravenous t-PA. (Funded by the Italian Medicines Agency, ClinicalTrials.gov number, NCT00640367.).

Published
2013

40. Subcortical and deep cortical atrophy in Frontotemporal Lobar Degeneration

Author

Garibotto, V, Borroni, B, Agosti, C, Premi, E, Alberici, A, Eickhoff, S, Brambati, S, Bellelli, G, Gasparotti, R, Perani, D, Padovani, A, GARIBOTTO, VALENTINA, BELLELLI, GIUSEPPE, Padovani, A., Garibotto, V, Borroni, B, Agosti, C, Premi, E, Alberici, A, Eickhoff, S, Brambati, S, Bellelli, G, Gasparotti, R, Perani, D, Padovani, A, GARIBOTTO, VALENTINA, BELLELLI, GIUSEPPE, and Padovani, A.

Abstract

hough neuroimaging, pathology and pathophysiology suggest a subcortical and deep cortical involvement in Frontotemporal Lobar Degeneration (FTLD), no studies have comprehensively assessed the associated gray matter (GM) volume changes. We measured caudate, putamen, thalamus, and amygdala GM volume using probabilistic a-priori regions of interest (ROIs) in 53 early FTLD patients (38 behavioral variant FTD [bvFTD], 9 Semantic Dementia [SD], 6 Progressive Non-Fluent Aphasia [PNFA]), and 25 age-matched healthy controls (HC). ANOVA showed significant (P<0.001) main effect of diagnosis, and significant interactions for diagnosis and region, and diagnosis and hemisphere. Post-hoc comparisons with HC showed bilateral GM atrophy in the caudate, putamen and thalamus, in bvFTD; a left-confined GM reduction in the amygdala in SD; and bilateral GM atrophy in the caudate and thalamus, and left-sided GM reduction in the putamen and amygdala in PNFA. Correlation analyses suggested an association between GM volumes and language, psychomotor speed and behavioral disturbances. This study showed a widespread involvement of subcortical and deep cortical GM in early FTLD with patterns specific for clinical entity.

Published
2011

41. White matter changes in corticobasal degeneration syndrome and correlation with limb apraxia

Author

Borroni, B, Garibotto, V, Agosti, C, Brambati, S, Bellelli, G, Gasparotti, R, Padovani, A, Perani, D, BELLELLI, GIUSEPPE, Perani, D., Borroni, B, Garibotto, V, Agosti, C, Brambati, S, Bellelli, G, Gasparotti, R, Padovani, A, Perani, D, BELLELLI, GIUSEPPE, and Perani, D.

Abstract

Background: Data on white matter changes in corticobasal degeneration syndrome (CBDS) are not yet available, whereas cortical gray matter loss is a feature of this condition. The structural abnormalities related to a key feature of CBDS (limb apraxia) are unknown. Objectives: To measure selective structural changes in early CBDS using diffusion tensor imaging and voxel-based morphometry and to evaluate the structural correlates of limb apraxia. Design: Patient and control group comparison. Setting: Referral center for dementia and movement disorders. Participants: Twenty patients with CBDS and 21 matched control subjects. Interventions: Clinical and standardized neuropsychological evaluations, including assessment of limb apraxia. Main Outcome Measures: Gray and white matter changes in early CBDS. Results: Diffusion tensor imaging revealed decreases in fractional anisotropy in the long frontoparietal connecting tracts, the intraparietal associative fibers, and the corpus callosum. Fractional anisotropy was also reduced in the sensorimotor projections of the cortical hand areas. Voxel-based morphometry showed a prevalent gray matter reduction in the left hemisphere (in the inferior frontal and premotor cortices, parietal operculum, superotemporal gyrus, and hippocampus). The pulvinar, bilaterally, and the right cerebellar cortex also showed atrophy. Limb apraxia correlated with parietal atrophy and with fractional anisotropy reductions in the parietofrontal associative fibers (P<.01). The limb-kinetic component of apraxia correlated with reduction of hand sensorimotor connecting fibers. Conclusions: The present integrative approach to in vivo structural anatomy combines hodologic imaging, describing patterns of white matter connections between cortical areas, with neuropsychological data. This provides new evidence of gray matter and fiber tract abnormalities in early-phase disease and contributes to clarifying the neural basis of apraxia in CBDS. ©2008 American M

Published
2008

43. Evidence of white matter changes on diffusion tensor imaging in frontotemporal dementia

Author

Borroni, B, Brambati, S, Agosti, C, Gipponi, S, Bellelli, G, Gasparotti, R, Garibotto, V, Di Luca, M, Scifo, P, Perani, D, Padovani, A, BELLELLI, GIUSEPPE, Padovani, A., Borroni, B, Brambati, S, Agosti, C, Gipponi, S, Bellelli, G, Gasparotti, R, Garibotto, V, Di Luca, M, Scifo, P, Perani, D, Padovani, A, BELLELLI, GIUSEPPE, and Padovani, A.

Abstract

Background: Two major clinical variants of frontotemporal dementia (FTD) have been described: frontal variant (fvFTD) and temporal variant (tvFTD). Objective: To analyze white matter (WM) and gray matter (GM) tissue organization in patients with fvFTD and tvFTD by means of diffusion tensor imaging and voxel-based morphometry, and the correlations with neuropsychological and behavioral variables. Design and Setting: Frontotemporal dementia clinic-based cohort and structural magnetic resonance imaging acquisition for voxel-based morphometry and diffusion tensor imaging measurements. Abnormalities were detected by a comparison with healthy control subjects. These variables were also correlated with clinical scores. Patients: Thirty-six patients (28 with fvFTD and 8 with tvFTD) in early disease stage and 23 healthy controls who underwent standardized clinical and neuropsychological evaluation and magnetic resonance imaging. Interventions: Diffusion tensor imaging and voxel-based morphometry. Main Outcome Measures: Neuroimaging analyses resulted in localized GM atrophy and reductions of white matter densities; the latter correlated with behavioral scores. Results: Voxel-based morphometry analysis showed separate patterns of GM atrophy in the 2 groups. Diffusion tensor imaging showed different WM reduction patterns in patients with fvFTD and tvFTD. The fvFTD group showed a selective WM reduction in the superior longitudinal fasciculus, interconnecting the frontal and occipital and the temporal and parietal regions. Conversely, patients with tvFTD were characterized by WM reductions in the inferior longitudinal fasciculus, which affected the connections between anterior temporal and frontal regions. The WM reductions in fvFTD paralleled both behavioral disturbances measured by Frontal Behavioral Inventory and neuropsychological deficits affecting frontal functions. Conclusions: The fvFTD and tvFTD variants are associated not only with selective local GM reductions but also

Published
2007

46. Central nervous system involvement in systemic lupus erythematosus patients without overt neuropsychiatric manifestations

Author

Sabbadini, M, Manfredi, A, Bozzolo, E, Ferrario, L, Rugarli, C, Scorza, R, Origgi, L, Vanoli, M, Gambini, O, Vanzulli, L, Croce, D, Campana, A, Messa, M, Fazio, F, Tincani, A, Anzola, G, Cattaneo, R, Padovani, A, Gasparotti, R, Gerli, R, Quartesan, R, Piccirilli, M, Farsi, A, Emmi, E, Passaleva, A, Sabbadini, MG, Manfredi, AA, Passaleva, A., MESSA, MARIA CRISTINA, FAZIO, FERRUCCIO, Sabbadini, M, Manfredi, A, Bozzolo, E, Ferrario, L, Rugarli, C, Scorza, R, Origgi, L, Vanoli, M, Gambini, O, Vanzulli, L, Croce, D, Campana, A, Messa, M, Fazio, F, Tincani, A, Anzola, G, Cattaneo, R, Padovani, A, Gasparotti, R, Gerli, R, Quartesan, R, Piccirilli, M, Farsi, A, Emmi, E, Passaleva, A, Sabbadini, MG, Manfredi, AA, Passaleva, A., MESSA, MARIA CRISTINA, and FAZIO, FERRUCCIO

Abstract

OBJECTIVE: To verify whether features of CNS involvement can be detected in SLE patients without overt neuropsychiatric manifestations. METHODS: 114 SLE patients who had never received a diagnosis of neuropsychiatric lupus (never-NPSLE) were studied and compared to 65 SLE patients with known neuropsychiatric involvement (NPSLE). The study relied on evaluation of neurocognitive functions by means of a battery of neuropsychological tests, on psychiatric and neuropsychological assessments and on neuroimaging studies (computed tomography, magnetic resonance, single photon emission computed tomography (SPECT)). RESULTS: Clinical features, including disease duration/activity and pharmacological therapy, of never-NPSLE and NPSLE patients were similar. Short-term and long-term memory, visuo-spatial and verbal information processing were similarly compromised in never-NPSLE and in NPSLE patients; only attention was significantly more compromised in NPSLE patients. Psychiatric morbidity was higher than expected in never-NPSLE patients, although less than in the control neuropsychiatric group. Ischemic lesions, multiple small high intensity lesions and cortical atrophy, detected by CT and MR scans, as well as abnormal SPECT were also frequently detected in never-NPSLE patients. Interestingly, left parietal and occipital area hypoperfusion by SPECT was significantly more frequent in the patients with impaired visuo-spatial intelligence and short-term memory. CONCLUSIONS: Most abnormalities detected by available diagnostic tools and characteristics of neuropsychiatric SLE are also present in non-symptomatic patients. They may derive from an unexpected widespread involvement of the CNS and are not per se sufficient, in the absence of clinical manifestations, for a diagnosis of neuropsychiatric SLE.

Published
1999

48. Interrater agreement for final infarct MRI lesion delineation.

Author

Neumann AB, Jonsdottir KY, Mouridsen K, Hjort N, Gyldensted C, Bizzi A, Fiehler J, Gasparotti R, Gillard JH, Hermier M, Kucinski T, Larsson EM, Sørensen L, Ostergaard L, Neumann, Anders B, Jonsdottir, Kristjana Y, Mouridsen, Kim, Hjort, Niels, Gyldensted, Carsten, and Bizzi, Alberto

Published
2009
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50. Le forme del fare

Author

DONA' , MASSIMO, CACCIARI M, GASPAROTTI R., Dona', Massimo, Cacciari, M, and Gasparotti, R.

Subjects
fare
Published
1987

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