Article
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.
Journal of neurology - 1 Feb 2009
Lee Yi-Chung, Liu Chin-San, Chang Ming-Hong, Lin Kon-Ping, Fuh Jong-Ling, Lu Yi-Chu, Liu Ya-Fen, Soong Bing-Wen
Abstract excerpt
BACKGROUND AND PURPOSE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disorder caused by NOTCH3 mutations and characterized by recurrent subcortical infarctions, dementia and leukoencephalopathy. So far, most clinical, molecular and neuroimaging information has come from Caucasians. Therefore, we investigated the spectrum of NOTCH3 mutations...
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