The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease

被引：19

作者：

Larner, A. J. ^{[1
]}

Ray, P. S. ^{[1
]}

Doran, M. ^{[1
]}

机构：

[1] Walton Ctr Neurol & Neurosurg, Cognit Funct Clin, Liverpool L9 7LJ, Merseyside, England

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2007年 / 252卷 / 02期

关键词：

Alzheimer's disease; genetics; presenilin-1; R269H;

D O I：

10.1016/j.jns.2006.11.013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Two siblings fulfilling clinical diagnostic criteria for late-onset Alzheimer's disease (AD) are reported. The family history suggested a total of nine individuals affected with AD in three generations with autosomal dominant disease transmission. Neurogenetic testing of the proband revealed a mutation, R269H, in the presenilin-1 (PSI) gene. Late-onset AD may be associated with deterministic PSI mutations,these should be sought when the family history suggests autosomal dominant disease transmission. (c) 2006 Elsevier B.V. All rights reserved.

引用

页码：173 / 176

页数：4

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