dolichoectasia. In male patients, we measured -galactosidase A (-GAL A) activity in dried blood spots.
Female patients were screened for mutations by exonic DNA sequencing of the -GAL A gene. Results---GAL A activity was deficient in 19 men (3.5%), although all had normal -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 (n5), Ala143Thr (n2), and Ser126Gly (n1). 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---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.
|Number of pages||6|
|Publication status||Published - May 2010|
- Fabry disease
- cerebrovascular accident
- white matter lesions
- -galactosidase A
- lysosomal storage disorders