Early onset familial Alzheimer's disease - Mutation frequency in 31 families
Early onset familial Alzheimer's disease - Mutation frequency in 31 families
复制标题
DOI：
10.1212/01.wnl.0000042088.22694.e3
复制
发表时间：
2003-01-28
期刊：
影响因子：
9.9
通讯作者：
Collinge, J
中科院分区：
文献类型：
--
作者：
Janssen, JC;Beck, JA;Collinge, J
背景：三个致病基因已被确定为常染色体显性AD。目的：确定由这些基因突变引起的具有阳性家族史的早发性AD患者的比例。研究方法：对31名可能或确定的AD先证者进行淀粉样前体蛋白（APP）、早老素1（PSEN1）和早老素2（PSEN2）基因突变分析，这些先证者来自发病年龄（AAO）的英国家族。
Background: Three causative genes have been identified for autosomal dominant AD. Objective: To determine the proportion of patients with early onset AD with a positive family history accounted for by mutations in these genes. Methods: A mutational analysis of the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes was performed in 31 probands with probable or definite AD from UK families with an age at onset (AAO)