A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies
复制标题
DOI：
10.1016/s0304-3940(01)02254-6
复制
发表时间：
2001-11-02
影响因子：
2.5
通讯作者：
Hardy, J
中科院分区：
文献类型：
--
作者：
Houlden, H;Crook, R;Hardy, J
早老素 1 突变是常染色体显性阿尔茨海默病的主要原因：在这里，我们发现了一种新的错义突变，导致密码子 233 处的蛋氨酸变为缬氨酸。该密码子与致病性早老素 2 突变同源，具有相同的碱基变化（ATG 至 GTG）和氨基酸变化（M239V）。这种突变导致疾病发病年龄极早（大约 30 岁），病理检查显示广泛的路易体以及斑块和缠结。 (C) 2001 Elsevier Science Ireland Ltd. 保留所有权利。
Presenilin 1 mutations are the major cause of autosomal dominant Alzheimer's disease: here we identify a new missense mutation causing a methionine to valine change at codon 233. This codon is homologous to a pathogenic presenilin 2 mutation with the same base change (ATG to GTG) and amino acid change (M239V). This mutation causes disease with an exceptionally early onset age (similar to 30 years) in which pathological examination shows extensive Lewy bodies as well as plaques and tangles. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.