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NEUROLOGY 2005;64:2148-2150
© 2005 American Academy of Neurology
Brief Communications

Effect of genetic modifiers on cerebral lesions in Fabry disease

Gheona Altarescu, MD, David F. Moore, MD, PhD, DIC and Raphael Schiffmann, MD

From the Department of Internal Medicine (Dr. Altarescu), Shaare Zedek Medical Center, Jerusalem Israel; Section of Neurology, Department of Internal Medicine (Dr. Moore), University of Manitoba, Alberta, Canada; Developmental and Metabolic Neurology Branch (Dr. Schiffman), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

Address correspondence and reprint requests to Dr. Raphael Schiffmann, National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892-1260; e-mail: RS4e{at}nih.gov

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.

Supported in part by a National Institute of Neurologic Disorders and Stroke grant NS002984-05.

Received October 14, 2004. Accepted in final form March 10, 2005.




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Correspondence:

Read all Correspondence

Effect of genetic modifiers on cerebral lesions in Fabry disease
Dimitri M. Hemelsoet, et al.
Neurology Online, 10 Oct 2005 [Full text]
Reply from the Authors
Raphael Schiffmann, et al.
Neurology Online, 10 Oct 2005 [Full text]

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