Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study

被引：24

作者：

Larner, AJ ^{[1
]}

du Plessis, DG ^{[1
]}

机构：

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

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2003年 / 10卷 / 03期

关键词：

Alzheimer's disease; M139V; presenilin-1; mutation;

D O I：

10.1046/j.1468-1331.2003.00597.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The clinical, neuropsychological and neuropathological features of a patient with early-onset Alzheimer's disease as a result of the M139V presenilin-1 (PSEN-1) mutation are presented, and compared with previous reports of patients with the same mutation. Similarities, such as the age at onset and the relative preservation of naming skills, and differences, such as the significant basal ganglia, thalamic and cerebellar pathology, are noted. This clinical and pathological heterogeneity in patients with the same PSEN-1 mutation suggests phenotype modulation by genetic and/or epigenetic factors.

引用

页码：319 / 323

页数：5

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