CADASIL患者的临床、影像和Notch3基因突变特点及我国研究现状

›› 2012, Vol. 7 ›› Issue (02): 136-140.

CADASIL患者的临床、影像和Notch3基因突变特点及我国研究现状

孙一忞，吴志英

上海复旦大学附属华山医院神经内科

收稿日期:2011-09-11 修回日期:2011-08-11 出版日期:2012-02-20 发布日期:2012-02-20
通讯作者: 吴志英

Symptoms, Neuroimaging and Notch3 Mutations of CADASIL and Its Features in Chinese Patients

SUN Yi-Min, WU Zhi-Ying

Received:2011-09-11 Revised:2011-08-11 Online:2012-02-20 Published:2012-02-20
Contact: WU Zhi-Ying

摘要/Abstract

摘要： 常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病（cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy，CADASIL）是一种较为少见的遗传性小动脉病，致病基因为Notch3。我国患者主要表现为皮层下缺血及认知障碍，伴有先兆的偏头痛极少见。影像学特点为多发皮质下梗死灶，侧脑室旁白质多发斑点状异常信号，外囊、前颞区和胼胝体为特征性受累部位。Notch3基因突变热区分布在第11、4和3号外显子，可能存在热点突变。

关键词: CADASIL; Notch3基因; 白质脑病

Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy(CADASIL) is a rare hereditary disease of small cerebral arteries caused by mutations within Notch3. The symptoms in Chinese patients are characterized by subcortical infarctions, cognitive impairment while the migraine with aura is rare. Multiple subcortical lacunar infarcts and white matter lesions around lateral ventricles were the features in neuroimaging. Lesions in the anterior part of the temporal lobes, external capsula and callosum are specific for CADASIL. The mutations within Notch3 were predominantly located in exon 11, 4 and 3 and some hot spots might exist.

Key words: CADASIL; Notch3; Leukoaraiosis

孙一忞;吴志英. CADASIL患者的临床、影像和Notch3基因突变特点及我国研究现状[J]. , 2012, 7(02): 136-140.

SUN Yi-Min;WU Zhi-Ying. Symptoms, Neuroimaging and Notch3 Mutations of CADASIL and Its Features in Chinese Patients [J]. , 2012, 7(02): 136-140.

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