Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

被引：55

作者：

Finckh, U

Alberici, A

Antoniazzi, M

Benussi, L

Fedi, V

Giannini, C

Gal, A

Nitsch, RM

Binetti, G

机构：

[1] Univ Hamburg, Krankenhaus Eppendorf, Dept Human Genet, D-22529 Hamburg, Germany

[2] IRCCS, Ctr S Giovanni di Dio, Neurobiol Lab, Brescia, Italy

[3] Motta di Livenza Hosp, Div Geriatr, Treviso, Italy

[4] Treviso Reg Hosp, Div Neuropathol, Treviso, Italy

[5] Univ Zurich, Dept Psychiat Res, Zurich, Switzerland

来源：

NEUROLOGY | 2000年 / 54卷 / 10期

关键词：

Alzheimer disease; presenilin; 2; mutation; phenotype variability; M239I; PSEN2; PS2;

D O I：

10.1212/WNL.54.10.2006

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In a family with autopsy-confirmed Alzheimer disease, the authors found a mutation in the presenilin 2 (PS2) gene (PSEN2) that predicts a methionine-to-isoleucine change at PS2 residue 239 (M239I), at which a change to valine was known in another family. Phenotypic expression of M239I was highly variable, with disease onset between age 44 and 58 years, and two nonaffected mutation carriers at age 58 and 68 years. The data showed no influence of APOE but were compatible with other possible genetic modifiers of the phenotype or penetrance of M239I.

引用

页码：2006 / 2008

页数：3

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