Canadian FABRY Stroke Screening Initiative (CFSSI)

Frequency of FABRY Disease in an Unselected Group of Cryptogenic Stroke Patients: A Multi-Centre Cohort Study


The primary objective of the FABRY study is to determine the prevalence of i) positive screens for mutations or polymorphisms in the GLA gene and ii) positive diagnoses of Fabry disease in an unselected group of young patients with cryptogenic stroke in Canada. Fabry disease is an X-linked lysosomal disorder that is caused by mutations in the GLA gene, which codes for the alpha-galactosidase-A enzyme.a positive screening for Fabry disease in young patients with premature and unexplained (cryptogenic) stroke.