赵丹华;贺大权;杨旭;金迪;刘潇;王朝霞;袁云;

• 1:航天中心医院(北京大学航天临床医学院)神经内科
• 2:北京大学第一医院神经内科

摘要(Abstract)：

目的报道1个常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病(CADASIL)家系患者的临床特征、影像学表现及基因突变特点。方法总结1个经基因证实的CADASIL家系患者的临床及影像学特点;对先证者及其家系部分成员进行NOTCH3基因测序,并进行反转录PCR检测突变位点对mRNA剪切的影响。结果该家系患者主要表现为脑梗死和痴呆,无明确偏头痛及精神异常病史;先证者头MRI显示多发腔隙性梗死灶及广泛的脑白质变性。NOTCH3基因分析显示先证者及有症状的家族成员存在c.341-2A>G杂合突变,家系中的健康人及100名健康对照未发现该突变;反转录PCR证实c.341-2A>G突变导致4号外显子mRNA起始的7个氨基酸(p.114-120)被跨越,产生截短蛋白。结论该CADASIL家系患者存在NOTCH3基因c.341-2A>G剪切部位突变,引起非正常的基因剪切,从而导致编码蛋白的结构和功能改变而致病。与携带该突变的欧洲CADASIL患者相比,本家系患者缺乏偏头痛症状。

关键词(KeyWords)： CADASIL;NOTCH3基因;剪切突变

Abstract:

Keywords:

基金项目(Foundation):

作者(Author): 赵丹华;贺大权;杨旭;金迪;刘潇;王朝霞;袁云;

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参考文献(References)：

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