title: [Prevalence of ischemic stroke in young adults and Fabry disease].
abstract: OBJECTIVE
  To investigate the prevalence of Fabry disease and GLA gene mutations in young patients with ischemic stroke.
  
  
  METHODS
  A total of 269 consecutive hospitalized patients of ischemic stroke, aged between 18-55 years, were recruited. DNA was extracted from peripheral blood. And 7 exons and flanking introns of α-galactosidase gene (GLA) were sequenced.
  
  
  RESULTS
  The cases were cerebral infarction (n = 239, 88.8%) transient ischemic attack and posterior circulation ischemia (n = 30, 11.2%). There were 216 males and 53 females with a mean age of 44 ± 8years.Large artery atherosclerosis was predominant at 55.4% according to the TOAST classifications. Among them, there were c.-12G> A point mutation (n = 12) and c.-10C> T mutation (n = 20). These two sites were located in the 5 'end of non-untranslated region in exon 1. Both loci were polymorphic loci.No disease-causing mutations were detected.
  
  
  CONCLUSIONS
  The prevalence of Fabry disease in young stroke patients is not high as in Western countries;there has some difference in TOAST types between patients with c.-10C> T mutation and without, further studies are needed to testing the significance.
authors.affiliation: Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
authors.forename: Xiaowei
authors.initials: X
authors.lastname: Song
authors.affiliation: Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
authors.forename: Sufang
authors.initials: S
authors.lastname: Xue
authors.affiliation: Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
authors.forename: Chunqiu
authors.initials: C
authors.lastname: Fan
authors.affiliation: Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
authors.forename: Xiaoying
authors.initials: X
authors.lastname: Li
authors.affiliation: Xuanwu Hospital, Capital Medical University, Beijing 100053, China. Email: wjxr@yahoo.com.
authors.forename: Jian
authors.initials: J
authors.lastname: Wu
mesh_terms: D000328:Adult; D002545:Brain Ischemia; D005091:Exons; D000795:Fabry Disease; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D020521:Stroke; D055815:Young Adult; D000519:alpha-Galactosidase
chemical_list: D000519:alpha-Galactosidase