伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病:1个家系报道并文献复习

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy:a family report and literature review

伴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 subcortical infarcts and leukoencephalopathy,CADASIL)是临床上最常见的单基因遗传性脑小血管病,由19号染色体上的NOTCH3基因突变引起,其常见临床表现包括偏头痛、反复卒中发作。