title: Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.
abstract: OBJECTIVE
  To assess the prevalence of Fabry disease in young patients with cryptogenic stroke.
  
  
  METHODS
  We retrospectively assessed the prevalence of Fabry disease in patients aged 16-60 years that were admitted to ZNA Middelheim Hospital from January 1, 2000 to December 31, 2004 for cryptogenic stroke. We screened for Fabry disease by measurement of alpha-galactosidase A and beta-glucuronidase activity on blood spot. In all patients with abnormal enzymatic activity and in all female patients with low normal values, genetic sequencing of the alpha-GAL-gene was performed.
  
  
  RESULTS
  In a population of 103 young patients with cryptogenic stroke that met the in- and exclusion criteria, we were unable to identify any patient with Fabry disease.
  
  
  CONCLUSIONS
  Based on the results of alpha-galactosidase A and beta-glucuronidase activity, genetic sequencing and the low prevalence of clinical signs and symptoms of Fabry disease in this population, we believe that the true prevalence of Fabry disease in patients with cryptogenic stroke may be less than currently accepted in literature.
authors.affiliation: Department of Neurology and Memory Clinic, ZNA Middelheim General Hospital, Antwerp, Belgium.
authors.forename: Raf
authors.initials: R
authors.lastname: Brouns
authors.forename: Rishi
authors.initials: R
authors.lastname: Sheorajpanday
authors.forename: Ellen
authors.initials: E
authors.lastname: Braxel
authors.forename: François
authors.initials: F
authors.lastname: Eyskens
authors.forename: Robert
authors.initials: R
authors.lastname: Baker
authors.forename: Derralynn
authors.initials: D
authors.lastname: Hughes
authors.forename: Atul
authors.initials: A
authors.lastname: Mehta
authors.forename: Therese
authors.initials: T
authors.lastname: Timmerman
authors.forename: Marie-Françoise
authors.initials: MF
authors.lastname: Vincent
authors.forename: Peter Paul
authors.initials: PP
authors.lastname: De Deyn
mesh_terms: D000293:Adolescent; D000328:Adult; D001530:Belgium; D002544:Cerebral Infarction / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D003430:Cross-Sectional Studies; D000795:Fabry Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D005966:Glucuronidase / Q000097:blood / Q000235:genetics; D006801:Humans; D002546:Ischemic Attack, Transient / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D013223:Statistics as Topic; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase; D005966:Glucuronidase