Effect of genetic modifiers on cerebral lesions in Fabry disease

被引:66
作者
Altarescu, G
Moore, DF
Schiffmann, R
机构
[1] NINDS, Dev & Metab Neurol Branch, NIH, Bethesda, MD 20892 USA
[2] Shaare Zedek Med Ctr, Dept Internal Med, Jerusalem, Israel
[3] Univ Manitoba, Dept Internal Med, Neurol Sect, Winnipeg, MB R3T 2N2, Canada
关键词
D O I
10.1212/01.WNL.0000166000.24321.4F
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:2148 / 2150
页数:3
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