Effect of genetic modifiers on cerebral lesions in Fabry disease
- 28 June 2005
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 64 (12) , 2148-2150
- https://doi.org/10.1212/01.wnl.0000166000.24321.4f
Abstract
Fabry disease is associated with increased risk of premature stroke and presumptive ischemic cerebral lesions. In 57 consecutive patients, 35% of whom had lesions on brain MRI, the authors found that genotypes of polymorphisms G-174C of interleukin-6, G894T of endothelial nitric oxide synthase, factor V G1691A mutation, and the A-13G and G79A of protein Z were all significantly associated with cerebral lesions. These findings suggest that these proteins modulate Fabry cerebral vasculopathy.Keywords
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