A presenilin 1 R278I mutation presenting with language impairment

被引：41

作者：

Godbolt, AK

Beck, JA

Collinge, J

Garrard, P

Warren, JD

Fox, NC

Rossor, MN

机构：

[1] UCL, Dementia Res Ctr, London, England

[2] UCL, MRC, Prion Unit, London, England

[3] UCL, Dept Neurodegenerat Dis, London, England

[4] UCL, Inst Neurol, London, England

[5] UCL, Inst Cognit Neurosci, London, England

来源：

NEUROLOGY | 2004年 / 63卷 / 09期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1212/01.WNL.0000143060.98164.1A

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease ( AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory. Screening for PSEN1 mutations may be appropriate in cases of familial dementia even where the clinical phenotype is not typical of AD.

引用

页码：1702 / 1704

页数：3

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