卡德西尔
白质脑病
医学
假性延髓麻痹
偏头痛
先证者
痴呆
冲程(发动机)
磁共振成像
内科学
外科
放射科
突变
遗传学
机械工程
疾病
生物
基因
工程类
作者
Zhixia Ren,Daiwen Chen,Yingying Shi,Yuanxing Zhang,Wan Wang,Zuzhi Chen,Mingrong Xia,Xiaohong Shi,Jiewen Zhang
出处
期刊:PubMed
[National Institutes of Health]
日期:2017-12-10
卷期号:34 (6): 821-825
被引量:2
标识
DOI:10.3760/cma.j.issn.1003-9406.2017.06.008
摘要
To investigate a cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) case with clinical manifestations of baldness, lumbago and Parkinson's symptoms.Clinical and imaging data of the patient were analyzed. The patient and his family members were also subjected to genetic testing.The symptoms of the patient included recurrent stroke, dementia, and mood disturbance, in addition with lumbago, baldness and Parkinson's symptoms but no migraine. Cranial MRI of the patient showed bilateral symmetric leukoencephalopathy and multiple small subcortical lacunar infarcts. A point mutation in exon 11 of the NOTCH3 gene (R558C) was discovered in the proband and four asymptomatic relatives.CADASIL is characterized by recurrent subcortical ischemic stroke, dementia, pseudobulbar palsy, and mood disturbance. Baldness, lumbago and Parkinson's symptoms may also be seen in such patients.
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