临床神经病学杂志2013，Vol.26Issue(4)：254-256,3.
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的临床特点(附1家系报告)
Clinical features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (report of 1 family)
胡新星 1秦超 1程道宾 1叶子明 1王天保1
作者信息
- 1. 530021南宁,广西医科大学第一附属医院神经内科
- 折叠
摘要
Abstract
Objective To investigate the clinical features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Methods Clinical data of a patient with CADASIL and his family were analyzed retrospectively.Results The clinical manifestation of the proband was onset as subcortical infarction,and associated with progressive cognitive dysfunction.MRI showed subcortical muhiinfarct lesions and leukoaraiosis.Genetic testing revealed Arg110Cys mutation in the third exon of NOTHC3 gene.Family survey showed autosomal dominent inherritence.Conclusions Ischemic stroke,cognitive dysfunction,migraine and mental symptom are the common manifestations of CADASIL.The characteristic change of MRI is abnormal high signal intensity on T2 in substantia alba of temporal pole.The NOTHC3 gene is mutation.关键词
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病/家系/临床特点Key words
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy/family constellation/ clinical feature分类
医药卫生引用本文复制引用
胡新星,秦超,程道宾,叶子明,王天保..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的临床特点(附1家系报告)[J].临床神经病学杂志,2013,26(4):254-256,3.
