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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Adult
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Blood Proteins / genetics
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Brain Ischemia / genetics*
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Brain Ischemia / metabolism
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Brain Ischemia / pathology
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Cerebral Arteries / metabolism*
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Cerebral Arteries / pathology
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Cerebral Arteries / physiopathology
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Cerebral Infarction / genetics*
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Cerebral Infarction / metabolism
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Cerebral Infarction / pathology
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Child
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DNA Mutational Analysis
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Encephalitis / genetics
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Fabry Disease / genetics*
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Fabry Disease / metabolism
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Fabry Disease / physiopathology
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Factor V / genetics
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Genetic Predisposition to Disease / genetics*
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Genotype
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Humans
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Interleukin-6 / genetics
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Mutation / genetics*
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Nitric Oxide Synthase Type III / genetics
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Oxidative Stress / genetics
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Polymorphism, Genetic / genetics
Substances
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Blood Proteins
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Interleukin-6
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plasma protein Z
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Factor V
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Nitric Oxide Synthase Type III