常染色体显性遗传脑动脉病伴皮质下梗死及白质脑病的发病机制研究进展

Progress in the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

常染色体显性遗传脑动脉病伴皮质下梗死及白质脑病(CADASIL)是由NOTCH3基因突变引起的遗传性脑小血管病,目前疾病的发病机制尚不明确。本综述对目前各研究提出的CADASIL发病机制进行总结,包括脑小动脉结构与功能的异常,血管平滑肌细胞骨架结构紊乱、膜离子通道异常、细胞增殖能力及信号通路活性改变以及可能的血脑屏障破坏。

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)is a hereditary cerebral small vessel disease caused by NOTCH3 gene mutations.At present,the pathogenesis and the effective treatments of CADASIL is unclear.This review summarizes the existing pathogenesis of CADASIL,including the dysfunction of cerebral small arteries,the abnormalities of vascular smooth muscle cells,and the possible destruction of blood-brain barrier.