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.
Conclusion: 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.