Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

Anna Bersano, Hugh Stephen Markus, Silvana Quaglini, Eloisa Arbustini, Silvia Lanfranconi, Giuseppe Micieli, Giorgio B Boncoraglio, Franco Taroni, Cinzia Gellera, Silvia Baratta, Silvana Penco, Lorena Mosca, Maurizia Grasso, Paola Carrera, Maurizio Ferrari, Cristina Cereda, Gaetano Grieco, Stefania Corti, Dario Ronchi, Maria Teresa BassiLaura Obici, Eugenio A Parati, Alessando Pezzini, Maria Luisa De Lodovici, Elena P. Verrengia, Giorgio Bono, Francesca Mazucchelli, Davide Zarcone, Maria Vittoria Calloni, Patrizia Perrone, Bianca Maria Bordo, Antonio Colombo, Alessandro Padovani, Anna Maria Cavallini, Simone Beretta, Carlo Ferrarese, Cristina Motto, Elio Agostoni, Graziella Molini, Francesco Sasanelli, Manuel Corato, Simona Marcheselli, Maria Sessa, Giancarlo Comi, Nicoletta Checcarelli, Mario Guidotti, Davide Uccellini, Giampaolo Merlini, Giacomo Pietro Comi, Paolo Vitali, Lombardia GENS Group*

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1702-9
Number of pages8
JournalStroke
Volume47
Issue number7
DOIs
Publication statusPublished - Jul 2016

Keywords

  • Journal Article

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