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1. The role of clinical and neuroimaging features in the diagnosis of CADASIL

Author

Bersano, Anna, Bedini, Gloria, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, Corato, Manuel, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, and on behalf of Lombardia GENS-group

Published
2018
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3. Long‐term applicability of the new ILAE definition of epilepsy. Results from the PRO‐LONG study

Author

Beretta, Simone, Carone, Davide, Zanchi, Clara, Bianchi, Elisa, Pirovano, Marta, Trentini, Claudia, Padovano, Giada, Colombo, Matteo, Cereda, Diletta, Scanziani, Sofia, Giussani, Giorgia, Gasparini, Sara, Bogliun, Graziella, Ferrarese, Carlo, Beghi, Ettore, Romeo, Antonino, Viri, Maurizio, Lodi, Monica, Specchio, Luigi, Trivisano, Marina, Mecarelli, Oriano, Zarabla, Alessia, Capovilla, Giuseppe, Beccaria, Francesca, Sasanelli, Francesco, Andrea Galimberti, Carlo, Tartara, Elena, Zamponi, Nelia, Cappanera, Silvia, Aguglia, Umberto, Pustorino, Giuseppe, Ferlazzo, Edoardo, La Neve, Angela, Luisi, Concetta, Pontrelli, Giuseppe, Basso, Pierfranco, Pozzi, Annalisa, Cantisani, Anna Teresa, Papetti, Rossella, De Maria, Giovanni, DiFrancesco, Jacopo C., and Albanese, Yasmin

Published
2017
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4. Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

Author

Bersano, Anna, Markus, Hugh Stephen, Quaglini, Silvana, Arbustini, Eloisa, Lanfranconi, Silvia, Micieli, Giuseppe, Boncoraglio, Giorgio B., Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Penco, Silvana, Mosca, Lorena, Grasso, Maurizia, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Corti, Stefania, Ronchi, Dario, Bassi, Maria Teresa, Obici, Laura, Parati, Eugenio A., Pezzini, Alessando, De Lodovici, Maria Luisa, Verrengia, Elena P., Bono, Giorgio, Mazucchelli, Francesca, Zarcone, Davide, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Colombo, Antonio, Padovani, Alessandro, Cavallini, Anna, Beretta, Simone, Ferrarese, Carlo, Motto, Cristina, Agostoni, Elio, Molini, Graziella, Sasanelli, Francesco, Corato, Manuel, Marcheselli, Simona, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Guidotti, Mario, Uccellini, Davide, Capitani, Erminio, Tancredi, Lucia, Arnaboldi, Marco, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Fusi, Laura, Grampa, Giampiero, Merlini, Giampaolo, Trobia, Nadia, Comi, Giacomo Pietro, Braga, Massimiliano, Vitali, Paolo, Baron, Pierluigi, Grond-Ginsbach, Caspar, and Candelise, Livia

Published
2016
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5. Comprehensive educational plan for patients with epilepsy and comorbidity (EDU-COM): a pragmatic randomised trial

Author

Beretta, Simone, Beghi, Ettore, Messina, Paolo, Gerardi, Francesca, Pescini, Francesca, La Licata, Andrea, Specchio, Luigi, Ferrara, Mariangela, Canevini, Maria Paola, Turner, Katherine, La Briola, Francesca, Franceschetti, Silvana, Binelli, Simona, Giglioli, Isabella, Galimberti, Carlo Andrea, Fattore, Cinzia, Zaccara, Gaetano, Tramacere, Luciana, Sasanelli, Francesco, Pirovano, Marta, and Ferrarese, Carlo

Published
2014
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8. Relevance of clinical context in the diagnostic-therapeutic approach to status epilepticus

Author

Aguglia, Umberto, Sueri, Chiara, Gasparini, Sara, Beghi, Ettore, Labate, Angelo, Gambardella, Antonio, Specchio, Luigi M., Ferlazzo, Edoardo, Aloisi, Paolo, Belcastro, Vincenzo, Benna, Paolo, Bianchi, Amedeo, Bogliun, Graziella, Brigo, Francesco, Buttinelli, Carla, Campostrini, Roberto, Cantello, Roberto, Anna, Teresa Cantisani, Cianci, Vittoria, Congia, Socrate, Consoli, Domenico, Costanzo, Erminio, De Falco Fabrizio, A., De Maria, Giovanni, Bonaventura, Carlo Di, Di Francesco Jacopo, C., Elia, Maurizio, Carlo, Andrea Galimberti, Giallonardo Anna, Teresa, Gigli Gian, Luigi, Iannacchero, Rosario, Iudice, Alfonso, La Neve, Angela, Latella Maria, Adele, Le Piane, Emilio, Marciani Maria, Grazia, Marino, Daniela, Mecarelli, Oriano, Michelucci, Roberto, Minicucci, Fabio, Monti, Fabrizio, Mumoli, Laura, Paciello, Nicola, Paladin, Francesco, Palumbo, Pasquale, Pisani, Francesco, Pisani Laura, Rosa, Sartucci, Ferdinando, Sasanelli, Francesco, Sofia, Vito, Striano, Pasquale, Striano, Salvatore, Strigaro, Gionata, Tinuper, Paolo, Verri, Annapia, Villani, Flavio, Zaccara, Gaetano, Capovilla, Giuseppe, Ferlisi, Monica, Aguglia, U, Sueri, C, Gasparini, S, Beghi, E, Labate, A, Gambardella, A, Specchio, L.M, Ferlazzo, E, Epilepsy Study Group of the Italian Neurological Society and of the Subcommission on Status Epilepticus of the Italian League Against Epilepsy [, Tinuper, P., and ]

Subjects
0301 basic medicine, medicine.medical_specialty, MEDLINE, Context (language use), Status epilepticus, Neurology, Neurology (clinical), 03 medical and health sciences, Therapeutic approach, 0302 clinical medicine, Text mining, Status Epilepticus, medicine, Humans, Relevance (information retrieval), Electroencephalography, Intensive care medicine, SE, Epilepsy, business.industry, 030104 developmental biology, status epilepticu, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

n.a.

Published
2016
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9. The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Author

on behalf of Lombardia GENS-group, Bersano, Anna, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Trobia, Nadia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, and Sasanelli, Francesco

Subjects
CADASIL syndrome, PROGRESSIVE multifocal leukoencephalopathy, MONOGENIC functions, NOTCH genes, BRAIN imaging
Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL.Methods: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities.Results: 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity.Conclusions: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield. [ABSTRACT FROM AUTHOR]

Published
2018
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10. Physical Therapy Versus a General Exercise Programme in Patients with Hoehn Yahr Stage II Parkinson's Disease: A Randomized Controlled Trial.

Author

Dipasquale, Savina, Meroni, Roberto, Sasanelli, Francesco, Messineo, Ivan, Piscitelli, Daniele, Perin, Cecilia, Cornaggia, Cesare Maria, and Cerri, Cesare G.

Subjects
PHYSICAL therapy, EXERCISE, PARKINSON'S disease, RANDOMIZED controlled trials, PHYSIOLOGICAL therapeutics
Abstract

Background and objective: Several studies suggest that general exercise (GE) and physical therapy programmes (PT) improve the outcomes of Parkinson's disease (PD) patients; however, the available data do not allow a determination of which treatment is more effective. Our study aims to compare the effects of physiotherapy and general exercise in Parkinson's disease. Methods: Design and setting: Randomized controlled trial - general hospital outpatient clinic. The participants were patients with Hoehn Yahr stage II PD. Two randomized groups: one receiving PT and one receiving GE. The outcome measures were the FIM, Hamilton Rating Scale, TUG test, and UPDRS. Results: FIM median scores improved by 3 points in the PT group after treatment, and the improvements were maintained at follow-up. The GE FIM median scores were unchanged after treatment and were reduced by 1 point at follow-up (p < 0.05). The TUG test time was reduced in the PT group but increased in the GE group with a 3-second difference between groups at follow-up, suggesting improved functional mobility after specific physiotherapy (p < 0.05). The UPDRS median score change from baseline was significantly different between the two groups at the end of treatment (6.5 points) and at follow-up (11 points), with a benefit for the physiotherapy group. Conclusions: Physiotherapy seems to be more effective than a generic exercise programme in patients with Hoehn Yahr stage II PD. [ABSTRACT FROM AUTHOR]

Published
2017
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11. Extrapyramidal and cognitive signs in amyotrophic lateral sclerosis: A population based cross-sectional study.

Author

Pupillo, Elisabetta, Bianchi, Elisa, Messina, Paolo, Chiveri, Luca, Lunetta, Christian, Corbo, Massimo, Filosto, Massimiliano, Lorusso, Lorenzo, Marin, Benoit, Mandrioli, Jessica, Riva, Nilo, Sasanelli, Francesco, Tremolizzo, Lucio, and Beghi, Ettore

Subjects
AMYOTROPHIC lateral sclerosis, EXTRAPYRAMIDAL disorders, COGNITIVE ability, CROSS-sectional method, FRONTOTEMPORAL dementia, DIAGNOSIS, PATIENTS
Abstract

Our objective was to assess the association between amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases such as Alzheimer's disease (AD), frontotemporal dementia (FTD) and Parkinson's disease (PD). From May 2007 through August 2012 we investigated 146 patients with newly diagnosed ALS and 146 age- and gender-matched controls. Each individual was screened for cardinal extrapyramidal signs (neurological examination) and cognitive dysfunction (Mini Mental State Examination, MMSE and Frontal Assessment Battery, FAB). Results demonstrated that rigidity was present in 8.2% of cases and 2.1% of controls (adjusted odds ratio, adjOR 5.7; 95% CI 1.5–22.0). The corresponding percentages for bradykinesia and postural instability were, respectively, 8.2 vs. 2.7% (adjOR 4.8; 95% CI 1.4–16.5) and 2.7 vs. 9.6% (adjOR 0.3; 95% CI 0.1–0.9). FAB ≤ 13.4 was recorded in 24.8 vs. 9.6%; adjOR 2.9; 95% CI 1.5–5.7). Tremor and abnormal FAB score were predicted by an older age at onset while an abnormal FAB score was associated with cramps and family history of neurodegenerative diseases. In conclusion, our data support the notion that newly diagnosed ALS carries a higher than expected risk of extrapyramidal signs and FTD. [ABSTRACT FROM PUBLISHER]

Published
2015
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13. Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

Author

Giorgio Bono, Eloisa Arbustini, Patrizia Perrone, Silvia Baratta, Graziella Molini, Elena Pinuccia Verrengia, Massimiliano Braga, Manuel Corato, Erminio Capitani, Gaetano S. Grieco, Pierluigi Baron, Giampaolo Merlini, Simona Marcheselli, Giuseppe Micieli, Nadia Trobia, Davide Uccellini, Anna Cavallini, Elio Agostoni, Mario Guidotti, Carlo Ferrarese, Alessandro Padovani, Laura Fusi, Caspar Grond-Ginsbach, Giacomo P. Comi, Silvia Lanfranconi, Marco Arnaboldi, Barbara Incorvaia, Livia Candelise, Maria Teresa Bassi, Cristina Motto, Paola Carrera, Lorena Mosca, Nicoletta Checcarelli, Lucia Tancredi, Alessando Pezzini, Hugh S. Markus, Laura Obici, Giancarlo Comi, Bianca Maria Bordo, Maria Luisa De Lodovici, Giorgio B. Boncoraglio, Davide Zarcone, Maurizia Grasso, Dario Ronchi, Maria Sessa, Francesca Mazucchelli, Maria Vittoria Calloni, Stefania Corti, Francesco Sasanelli, Paolo Vitali, Giampiero Grampa, C. Gellera, Maurizio Ferrari, Cristina Cereda, Antonio Colombo, Silvana Penco, Anna Bersano, Franco Taroni, Simone Beretta, Carlo Sebastiano Tadeo, Silvana Quaglini, Eugenio Parati, Bersano, A, Markus, H, Quaglini, S, Arbustini, E, Lanfranconi, S, Micieli, G, Boncoraglio, G, Taroni, F, Gellera, C, Baratta, S, Penco, S, Mosca, L, Grasso, M, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Corti, S, Ronchi, D, Bassi, M, Obici, L, Parati, E, Pezzini, A, De Lodovici, M, Verrengia, E, Bono, G, Mazucchelli, F, Zarcone, D, Calloni, M, Perrone, P, Bordo, B, Colombo, A, Padovani, A, Cavallini, A, Beretta, S, Ferrarese, C, Motto, C, Agostoni, E, Molini, G, Sasanelli, F, Corato, M, Marcheselli, S, Sessa, M, Comi, G, Checcarelli, N, Guidotti, M, Uccellini, D, Capitani, E, Tancredi, L, Arnaboldi, M, Incorvaia, B, Tadeo, C, Fusi, L, Grampa, G, Merlini, G, Trobia, N, Braga, M, Vitali, P, Baron, P, Grond Ginsbach, C, Candelise, L, Bersano, Anna, Markus, Hugh Stephen, Quaglini, Silvana, Arbustini, Eloisa, Lanfranconi, Silvia, Micieli, Giuseppe, Boncoraglio, Giorgio B., Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Penco, Silvana, Mosca, Lorena, Grasso, Maurizia, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Corti, Stefania, Ronchi, Dario, Bassi, Maria Teresa, Obici, Laura, Parati, Eugenio A., Pezzini, Alessando, De Lodovici, Maria Luisa, Verrengia, Elena P., Bono, Giorgio, Mazucchelli, Francesca, Zarcone, Davide, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Colombo, Antonio, Padovani, Alessandro, Cavallini, Anna, Beretta, Simone, Ferrarese, Carlo, Motto, Cristina, Agostoni, Elio, Molini, Graziella, Sasanelli, Francesco, Corato, Manuel, Marcheselli, Simona, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Guidotti, Mario, Uccellini, Davide, Capitani, Erminio, Tancredi, Lucia, Arnaboldi, Marco, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Fusi, Laura, Grampa, Giampiero, Merlini, Giampaolo, Trobia, Nadia, Comi, Giacomo Pietro, Braga, Massimiliano, Vitali, Paolo, Baron, Pierluigi, Grond Ginsbach, Caspar, and Candelise, Livia

Subjects
Adult, Male, Mitochondrial encephalomyopathy, Pediatrics, medicine.medical_specialty, Pathology, DNA Mutational Analysis, CADASIL, Disease, 030204 cardiovascular system & hematology, MELAS syndrome, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, genetics, Genetic Testing, Registries, Stroke, cerebral amyloid angiopathy, Aged, Genetic testing, Advanced and Specialized Nursing, Fabry disease, medicine.diagnostic_test, business.industry, cerebral amyloid angiopathy, familial, Marfan syndrome, stroke, Neurology (clinical), Cardiology and Cardiovascular Medicine, familial, Middle Aged, medicine.disease, Mutation, Female, genetic, business, 030217 neurology & neurosurgery
Abstract

Background and Purpose— Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease Methods— We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of Results— In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease. Conclusions— In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series.

Published
2016

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