Reference : Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with...
Scientific journals : Article
Human health sciences : Neurology
http://hdl.handle.net/2268/78973
Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.
English
Brouns, Raf [> > > >]
Thijs, Vincent [> > > >]
Eyskens, Francois [> > > >]
Van den Broeck, Marleen [> > > >]
Belachew, Shibeshih mailto [Université de Liège - ULg > Département des sciences cliniques > Neurologie >]
Van Broeckhoven, Christine [> > > >]
Redondo, Patricia [> > > >]
Hemelsoet, Dimitri [> > > >]
Fumal, Arnaud mailto [Centre Hospitalier Universitaire de Liège - CHU > > Neurologie CHR >]
Jeangette, Sandrine [> > > >]
Verslegers, Werner [> > > >]
Baker, Robert [> > > >]
Hughes, Derralynn [> > > >]
De Deyn, Peter Paul [> > > >]
2010
Stroke
Lippincott Williams & Wilkins
41
5
863-8
Yes (verified by ORBi)
International
0039-2499
1524-4628
Baltimore
MD
[en] Adolescent ; Adult ; Age Factors ; Belgium/epidemiology ; Cerebrovascular Disorders/diagnosis/enzymology/epidemiology/genetics ; Cohort Studies ; Fabry Disease/diagnosis/enzymology/epidemiology/genetics ; Female ; Humans ; Male ; Middle Aged ; Prevalence ; Prospective Studies ; Young Adult ; alpha-Galactosidase/genetics
[en] 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.
http://hdl.handle.net/2268/78973
10.1161/STROKEAHA.110.579409

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