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

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

Research output: Contribution to journalArticle

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

Original languageEnglish
Pages (from-to)1702-1709
Number of pages8
JournalStroke
Volume47
Issue number7
DOIs
Publication statusPublished - Jul 1 2016

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Keywords

  • CADASIL
  • cerebral amyloid angiopathy, familial
  • Fabry disease
  • genetics
  • Marfan syndrome
  • MELAS syndrome
  • stroke

ASJC Scopus subject areas

  • Medicine(all)
  • Clinical Neurology
  • Cardiology and Cardiovascular Medicine
  • Advanced and Specialised Nursing

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