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机制研究进展  

Advances on the mechanism of cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy

作　　者：高翔 刘小民[1] GAO Xiang;LIU Xiaomin(Department of Neurology,First Affiliated Hospital of Shandong First Medical University(Shandong Provincial Qianfoshan Hospital),Jinan,Shandong 250014,China)

机构地区：[1]山东第一医科大学第一附属医院(山东省千佛山医院)神经内科,山东济南250014

出　　处：《国际神经病学神经外科学杂志》2023年第6期63-67,共5页Journal of International Neurology and Neurosurgery

基　　金：山东省自然科学基金项目(ZR2021MH059);山东省重点研发计划项目(2015GGH318011)。

摘　　要：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(CADASIL)是一种中年发病的遗传性脑小动脉病,典型临床表现是偏头痛发作、频发性皮质下短暂性脑缺血发作或缺血性脑卒中、认知功能下降和精神症状。该病由NOTCH3基因突变所致,但具体发病机制不清,可能与电子致密嗜锇颗粒沉积、NOTCH3蛋白信号通路异常、胶质细胞损伤及自噬功能异常、配体介导的内吞障碍和NOTCH3蛋白胞外区清除障碍有关。该文就近年CADASIL的致病机制研究进展进行了综述。Cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy(CADASIL)is an inherited cerebral small artery disease in middle-aged adults.The predominant clinical features include migraine attacks,recurrent subcortical ischemic strokes or transient ischemic attacks,cognitive decline,and psychiatric symptoms.The disease is caused by NOTCH3 gene mutations,but the exact mechanism is unclear.A variety of mechanisms have been proposed,such as electron-dense granular osmiophilic material deposition,abnormalities in the NOTCH3 protein signaling pathway,glial cell dysfunction and autophagy abnormalities,impairment of ligand-mediated endocytosis,and impairment of NOTCH3 extracellular protein clearance.This paper reviews the recent research progress on the pathogenesis of CADASIL.

关 键 词：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 NOTCH3基因 突变 发病机制 

分 类 号：R743.31[医药卫生—神经病学与精神病学]