Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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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, Candelise Livia, Lombardia GENS Group*
Аннотация
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.