Article
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China.
The International journal of neuroscience - 1 Jan 2015
Yin Xinzhen, Wu Dingwen, Wan Jinping, Yan Shenqiang, Lou Min, Zhao Guohua, Zhang Baorong
Abstract excerpt
AIMS: To analyze the NOTCH3 gene mutations in patients from mainland China clinically suspected to have cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and evaluate large intracranial arteries in CADASIL patients. METHODS: We performed clinical, neuroimaging and NOTCH3 gene (exons 2-23) examinations in 47 subjects from 34 families. Large intracranial arteries...
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