PSEN2突變引起的家族性阿爾茨海默病1例報道
發(fā)布時間：2018-12-13 17:06
【摘要】：正阿爾茨海默病(Alzheimer’s disease,AD)是引起癡呆的最常見病因,常染色體顯性遺傳的AD致病基因有淀粉樣前體蛋白(amyloid precursor protein,APP)、早老素1(presenilin1,PSEN1)和早老素2(presenilin 2,PSEN2)。其中,PSEN1突變最常見,約占60%;APP突變約占20%,且APP基因片段重復變異約占8%;PSEN2突變最少見[1]。在亞洲人群中由
[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
【作者單位】： 上海交通大學醫(yī)學院附屬瑞金醫(yī)院神經(jīng)內(nèi)科上海交通大學醫(yī)學院神經(jīng)病學研究所;
【分類號】：R749.16
，
本文編號：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
【作者單位】： 上海交通大學醫(yī)學院附屬瑞金醫(yī)院神經(jīng)內(nèi)科上海交通大學醫(yī)學院神經(jīng)病學研究所;
【分類號】：R749.16
，
本文編號：2376884
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