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 <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis. 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.

Bersano, A., Markus, H., Quaglini, S., Arbustini, E., Lanfranconi, S., Micieli, G., et al. (2016). Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry. STROKE, 47(7), 1702-1709 [10.1161/STROKEAHA.115.012281].

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

Boncoraglio, G;FERRARI, MAURIZIO;Beretta, S;FERRARESE, CARLO;CORATO, MANUEL;
2016

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 <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis. 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.
Articolo in rivista - Articolo scientifico
CADASIL; cerebral amyloid angiopathy, familial; Fabry disease; genetics; Marfan syndrome; MELAS syndrome; stroke;
CADASIL; cerebral amyloid angiopathy, familial; Fabry disease; genetics; Marfan syndrome; MELAS syndrome; stroke; Neurology (clinical); Cardiology and Cardiovascular Medicine; Advanced and Specialized Nursing
English
1702
1709
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Bersano, A., Markus, H., Quaglini, S., Arbustini, E., Lanfranconi, S., Micieli, G., et al. (2016). Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry. STROKE, 47(7), 1702-1709 [10.1161/STROKEAHA.115.012281].
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; Comi, G; Braga, M; Vitali, P; Baron, P; Grond Ginsbach, C; Candelise, L
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/141181
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