NOTCH3基因EGFr区域突变与CADASIL表型  

Mutations in the EGFr region of NOTCH3 gene and CADASIL phenotype

作　　者：张晨 张在强[1,2] Zhang Chen;Zhang Zaiqiang(Neurology Center,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China;National Clinical Research Center for Nervous system Diseases,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China)

机构地区：[1]首都医科大学附属北京天坛医院神经病学中心,北京100070 [2]首都医科大学附属北京天坛医院国家神经系统疾病临床医学研究中心,北京100070

出　　处：《国际脑血管病杂志》2022年第6期443-447,共5页International Journal of Cerebrovascular Diseases

基　　金：首都临床特色应用研究与成果推广基金(Z171100001017080)。

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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是一种成年起病的遗传性小血管病,由位于染色体19p13区域的NOTCH3基因突变所致。其临床特点包括反复缺血性卒中、进行性认知损害、偏头痛以及精神异常等。近年来的研究表明,NOTCH3基因EGFr区域突变与CADASIL的病程、临床表现以及影像学特点均存在联系。文章就NOTCH3基因EGFr区域突变基因型、CADASIL临床表型以及二者的相关性研究进展进行了综述,期望为CADASIL的早期诊断以及发病机制研究提供思路。CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)is a hereditary small vessel disease originated from adult onset,which is caused by the mutation of NOTCH3 gene located in the region of chromosome 19p13.Its clinical features include recurrent ischemic stroke,progressive cognitive impairment,migraine and mental disorders.Recent studies have shown that the mutations in the EGFr region of NOTCH3 gene are associated with the course,clinical manifestations and imaging features of CADASIL.This article reviews the research progress of the NOTCH3 gene EGFr region mutation genotype,clinical phenotype of CADASIL and their correlation,hoping to provide ideas for the early diagnosis and pathogenesis of CADASIL.

关 键 词：CADASIL 受体 NOTCH3 蛋白质结构域 基因型 表型 

分 类 号：R743[医药卫生—神经病学与精神病学]