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 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, Erminio Capitani, Lucia Tancredi, Marco Arnaboldi, Barbara Incorvaia, Carlo Sebastiano Tadeo, Laura Fusi, Giampiero Grampa, Giampaolo Merlini, Nadia Trobia, Giacomo Pietro Comi, Massimiliano Braga, Paolo Vitali, Pierluigi Baron, Caspar Grond-Ginsbach, Livia Candelise

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

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

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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