TDP-43 A315T mutation in familial motor neuron disease

被引：528

作者：

Gitcho, Michael A. ^{[1
,2
]}

Baloh, Robert H. ^{[2
]}

Chakraverty, Sumi ^{[1
,3
]}

Mayo, Kevin ^{[3
]}

Norton, Joanne B. ^{[1
,3
]}

Levitch, Denise ^{[1
,3
]}

Hatanpaa, Kimmo J. ^{[4
]}

White, Charles L., III ^{[4
]}

Bigio, Eileen H. ^{[5
,6
]}

Caselli, Richard ^{[7
]}

Baker, Matt ^{[8
]}

Al-Lozi, Muhammad T. ^{[2
]}

Morris, John C. ^{[1
,2
,9
]}

Pestronk, Alan ^{[2
]}

Rademakers, Rosa

Goate, Alison M. ^{[1
,3
,10
]}

Cairns, Nigel J. ^{[1
,2
,9
]}

机构：

[1] Washington Univ, Sch Med, Alzheimers Dis Res Ctr, St Louis, MO 63110 USA

[2] Washington Univ, Sch Med, Alzheimers Dis Res Ctr, Dept Neurol, St Louis, MO 63110 USA

[3] Washington Univ, Sch Med, Alzheimers Dis Res Ctr, Dept Genet, St Louis, MO 63110 USA

[4] Univ Texas SW Med Ctr Dallas, Dept Pathol, Neuropathol Lab, Dallas, TX USA

[5] Northwestern Univ, Feinberg Sch Med, Dept Pathol, Chicago, IL 60611 USA

[6] Northwestern Univ, Feinberg Sch Med, Dept Cognit Neurol, Alzheimer Dis Ctr, Chicago, IL 60611 USA

[7] Mayo Clin, Dept Neurol, Scottsdale, AZ USA

[8] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA

[9] Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA

[10] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA

来源：

ANNALS OF NEUROLOGY | 2008年 / 63卷 / 04期

关键词：

D O I：

10.1002/ana.21344

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

To identify novel causes of familial neurodegenerative diseases, we extended our previous studies of TAR DNA-binding protein 43 (TDP-43) proteinopathies to investigate TDP-43 as a candidate gene in familial cases of motor neuron disease. Sequencing of the TDP-43 gene led to the identification of a novel missense mutation, Ala-315-Thr, which segregates with all affected members of an autosomal dominant motor neuron disease family. The mutation was not found in 1,505 healthy control subjects. The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration.

引用

页码：535 / 538

页数：4

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