CADASIL1例家系报告并文献复习
Journal of Apoplexy and Nervous Diseases(2023)
Abstract
短篇与个案报告 伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcorti-cal infarcts and leukoencephalopathy, CADASIL) 是一种由NOTCH3 基因突变引起的遗传性脑小血管疾病,主要影响中年人,其症状包括偏头痛、短暂性缺血发作、认知障碍和精神障碍.
MoreKey words
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL),Notch3,Imaging,Treatment
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