Title: Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease
Authors: Brouns, Raf ×
Thijs, Vincent
Eyskens, François
Van den Broeck, Marleen
Belachew, Shibeshih
Van Broeckhoven, Christine
Redondo, Patricia
Hemelsoet, Dimitri
Fumal, Arnaud
Jeangette, Sandrine
Verslegers, Werner
Baker, Robert
Hughes, Derralynn
De Deyn, Peter Paul #
Issue Date: May-2010
Publisher: Lippincott Williams & Wilkins
Series Title: Stroke vol:41 issue:5 pages:863-8
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. CONCLUSIONS: 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.
ISSN: 0039-2499
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Laboratory for Neurobiology (Vesalius Research Center)
× corresponding author
# (joint) last author

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