早衰蛋白1

为筛查PSEN1基因的突变，这一突变与早发家族性阿尔茨海默氏症（EOFAD，也称为阿尔茨海默氏症3型，AD3）有关。尽管大多数阿尔茨海默氏症始于65岁以后（晚发），但有大约5-10%的患者是在65岁以前发病的。大多数早发的阿尔茨海默氏症都是家族性的-是由基因突变引起的。迄今为止已经有三个基因被证实与AD3有关；它们都是很罕见的。在这三种基因中，PSEN1是最常见的，大约一半的AD3是由于PSEN1引起的。

PSEN1是一个显性基因，只需一个突变就可引起AD3，它可以遗传自父亲也可以是母亲。目前还不清楚为何PSEN1与AD3有关。人们已经在研究PSEN1基因的作用和它产生的蛋白―早衰素1的功能，但是还不是非常清楚，它似乎是一种酶，可以分解阿尔茨海默氏症斑块中的蛋白。PSEN1是一种罕见的突变。迄今为止，仅在全世界大约50个不同的家系中就已证实约有40个PSEN1基因的突变。

PSEN1基因突变分析是一个新的检测项目，还没有被广泛接受。目前它只能鉴别大约30-60%由PSEN1突变引起的AD3患者。如果患者的家系中已知有PSEN1突变，那么此项分析操作比较容易。

采集手臂静脉血。

疾病: 阿尔茨海默病

Alzheimer's Resource Room, Administration on Aging, U.S. Department of Health and Human Services: Caregivers and Families
Alzheimer Research Forum
Alzheimer’s Disease Education and Referral (ADEAR) Center
National Institute of Neurological Disorders and Stroke
GeneReviews: Early-Onset Familial Alzheimer Disease

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