Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain

被引：10

作者：

Queralt, R

Ezquerra, M

Castellví, M

Lleó, A

Blesa, R

Oliva, R

机构：

[1] Hosp Clin, Inst Invest Biomed August Pi & Sunyer, Genet Serv, Barcelona 08036, Spain

[2] Hosp Clin, IDIBAPS, Neurol Serv, Barcelona 08036, Spain

来源：

NEUROSCIENCE LETTERS | 2001年 / 299卷 / 03期

关键词：

early-onset Alzheimer's disease; Alzheimer disease; presenilin; 1; gene; mutation;

D O I：

10.1016/S0304-3940(01)01498-7

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

In a family with early-onset Alzheimer disease (EOAD) from Spain we found a mutation in the presenilin 1 (PS1) gene that predicts a methionine-to-threonine change at the PS1 residue 139 (M139T). This mutation was previously reported in a independent French family. The age of onset of the disease was similar in the affected members from both families, suggesting a specific age of expression (range 47-50 years). The detection of the M139T mutation in an independent EOAD family strongly supports the pathogenicity of this mutation in familial Alzheimer disease (AD). (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

引用

页码：239 / 241

页数：3

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