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Neurology. 2005 Jun 28;64(12):2148-50.

Effect of genetic modifiers on cerebral lesions in Fabry disease.

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Department of Internal Medicine, Shaare Zedek Medical Center, Jerusalem, Israel.


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.

[Indexed for MEDLINE]

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