Effect of genetic modifiers on cerebral lesions in Fabry disease
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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.
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Letters: Rapid online correspondence
- Effect of genetic modifiers on cerebral lesions in Fabry disease
- Dimitri M. Hemelsoet, Gent University Hospital, Department of Neurology, De Pintelaan 185, B-9000 Gent, Belgiumdimitri.hemelsoet@ugent.be
- Anna Vantilborgh and Jan L. De Bleecker
Submitted October 10, 2005 - Reply from the Authors
- Raphael Schiffmann, NIH, Bldg. 10, Rm. 3D03, 9000 Rockville Pike, Bethesda, MD 20892-1260rs4e@nih.gov
- David F. Moore, Gheona Altarescu
Submitted October 10, 2005
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