CADASIL

作为卒中、痴呆和偏头痛的病因,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(CADASIL)越来越受到人们的重视。Notch3基因突变是CADASIL的分子遗传学基础。目前,基因突变检测和皮肤肌肉组织活检是诊断CADASIL的主要手段。

As one of the causes of stroke, dementia and migraine, cerebral autosomal dominant with subcortical infarcts and leukoencephalopathy（CADASIL） has been paid increasing attention. Notch3 mutation is the molecular genetics basis of CADASIL. The detection of gene mutation and skin or muscle biopsy are the main tools in the diagnosis of CADASIL.