PSEN2突变引起的家族性阿尔茨海默病1例报道
发布时间：2018-12-13 17:06
【摘要】：正阿尔茨海默病(Alzheimer’s disease,AD)是引起痴呆的最常见病因,常染色体显性遗传的AD致病基因有淀粉样前体蛋白(amyloid precursor protein,APP)、早老素1(presenilin1,PSEN1)和早老素2(presenilin 2,PSEN2)。其中,PSEN1突变最常见,约占60%;APP突变约占20%,且APP基因片段重复变异约占8%;PSEN2突变最少见[1]。在亚洲人群中由
[Abstract]:Positive Alzheimer's disease (Alzheimer's disease,AD) is the most common cause of dementia. Autosomal dominant genes for AD include amyloid precursor protein (amyloid precursor protein,APP, presenilin1,PSEN1 and presenilin 2. PSEN2) Among them, PSEN1 mutation is the most common, accounting for about 60% of app mutation about 20%, and APP gene fragment repeat mutation accounting for about 8% PSEN2 mutation is the most rare [1]. Among the Asian population
【作者单位】： 上海交通大学医学院附属瑞金医院神经内科上海交通大学医学院神经病学研究所;
【分类号】：R749.16
，
本文编号：2376884
[Abstract]:Positive Alzheimer's disease (Alzheimer's disease,AD) is the most common cause of dementia. Autosomal dominant genes for AD include amyloid precursor protein (amyloid precursor protein,APP, presenilin1,PSEN1 and presenilin 2. PSEN2) Among them, PSEN1 mutation is the most common, accounting for about 60% of app mutation about 20%, and APP gene fragment repeat mutation accounting for about 8% PSEN2 mutation is the most rare [1]. Among the Asian population
【作者单位】： 上海交通大学医学院附属瑞金医院神经内科上海交通大学医学院神经病学研究所;
【分类号】：R749.16
，
本文编号：2376884
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