Journal article
Belgian fabry study: Prevalence of fabry disease in a cohort of 1000 young patients with cerebrovascular disease
R Brouns, V Thijs, F Eyskens, M Van Den Broeck, S Belachew, C Van Broeckhoven, P Redondo, D Hemelsoet, A Fumal, S Jeangette, W Verslegers, R Baker, D Hughes, P Paul De Deyn
Stroke | Published : 2010
Abstract
BACKGROUND AND PURPOSE-: Data on the prevalence of Fabry disease in patients with central nervous system pathology are limited and controversial. In this study, we assessed the prevalence of Fabry disease in young patients presenting with cerebrovascular disease in Belgium. METHODS-: In this national, prospective, multicenter study, we screened for Fabry disease in 1000 patients presenting with ischemic stroke, transient ischemic attack, or intracranial hemorrhage; unexplained white matter lesions; or vertebrobasilar dolichoectasia. In male patients, we measured α-galactosidase A (α-GAL A) activity in dried blood spots. Female patients were screened for mutations by exonic DNA sequencing of ..
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Funding Acknowledgements
We thank the participating patients and all BeFaS investigators for their commitment to the study (see supplemental Appendix, available online at http://stroke.ahajournals.org) and the VIB Genetic Service Facility for the genetic services. BeFaS was funded by an unrestricted grant from Shire Belgium.