Title
Belgian Fabry Study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
New York, N.Y. ,
Subject
Human medicine
Source (journal)
Stroke: a journal of cerebral circulation / American Heart Association. - New York, N.Y.
Volume/pages
41(2010) :5 , p. 863-868
ISSN
0039-2499
ISI
000277064300007
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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 [alpha]-galactosidase A ([alpha]-GAL A) activity in dried blood spots. Female patients were screened for mutations by exonic DNA sequencing of the [alpha]-GAL A gene. Results-: [alpha]-GAL A activity was deficient in 19 men (3.5%), although all had normal [alpha]-GAL A gene sequences. Enzymatic deficiency was confirmed on repeat assessment in 2 male patients (0.4%). We identified missense mutations in 8 unrelated female patients (1.8%): Asp313Tyr (n=5), Ala143Thr (n=2), and Ser126Gly (n=1). The pathogenicity of the 2 former missense mutations is controversial. Ser126Gly is a novel mutation that can be linked to late-onset Fabry disease. Conclusion-: [alpha]-GAL A deficiency may play a role in up to 1% of young patients presenting with cerebrovascular disease. These findings suggest that atypical variants of Fabry disease with late-onset cerebrovascular disease exist, although the clinical relevance is unclear in all cases.
E-info
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