卡德西尔
白质脑病
偏头痛
家族史
高强度
医学
神经影像学
冲程(发动机)
病理
白质
磁共振成像
内科学
疾病
放射科
精神科
工程类
机械工程
作者
Xiaoxia Hou,Hong Sheng Cheng,Qingwen Jin,Qi Niu,Feifei Shen,Juan Yao,Xinsheng Ding
出处
期刊:PubMed
日期:2016-08-01
卷期号:33 (4): 511-4
标识
DOI:10.3760/cma.j.issn.1003-9406.2016.04.019
摘要
To analyze the clinical features and genetic cause for a family affected with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Clinical manifestations, neuroimaging, and genetic analysis were performed.The main clinical features have included stroke, emotional disturbance and history of migraine without progressive memory impairment. A positive family history was confirmed. Cranial MRI has revealed multi-infarct lesions and white matter hyperintensity involving bilateral basal ganglia, subcortex and brain stem. All such features were in keeping with the diagnosis of CADASIL. A rare 2182C>T mutation in exon 14 of the NOTCH3 gene was identified in all available cases.Both clinical and molecular features suggested that the family has been affected with CADASIL.
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