CADASIL的临床和影像学特征  

Cinical and imaging features of CADASIL

作　　者：侯晓夏 孙美 程虹[1] 

机构地区：[1]南京医科大学第一附属医院神经内科,210029

出　　处：《国际脑血管病杂志》2017年第8期739-744,共6页International Journal of Cerebrovascular Diseases

基　　金：江苏省人社厅“六大人才高峰”第12批高层次人才资助项目（WSN-025）;江苏省研究生培养创新工程项目（SJLXl6-0370）

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）是最常见的单基因遗传性脑小血管病，以偏头痛、反复发作性皮质下缺血、进行性认知功能减退和情感障碍为主要特征。CADASIL的诊断依赖于典型的临床症状和神经影像学表现，并通过皮肤活检和基因检测确诊。近年来，在CADASIL的临床和影像学特征方面获得了一些新的认识，文章就此方面的研究进展进行了综述。Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL） is the most common monogenic cerebral small vessel disease. Migraine, recurrent subcortical ischemia, progressive cognitive impairment, and emotional disorders are the main features. The diagnosis of CADASIL depends on typical clinical symptoms and neuroimaging findings, and it is eonfirmed by skin biopsy and gene testing. In recent years, some new insights have been obtained in the clinical and imaging features of CADASIL This article reviews the research progress in this field.

关 键 词：CADASIL 卒中 受体 Notch3 突变 表型 磁共振成像 神经影像 

分 类 号：R743[医药卫生—神经病学与精神病学]