作者
Michael A Gitcho, Robert H Baloh, Sumi Chakraverty, Kevin Mayo, Joanne B Norton, Denise Levitch, Kimmo J Hatanpaa, Charles L White III, Eileen H Bigio, Richard Caselli, Matt Baker, Muhammad T Al‐Lozi, John C Morris, Alan Pestronk, Rosa Rademakers, Alison M Goate, Nigel J Cairns
发表日期
2008/4
期刊
Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society
卷号
63
期号
4
页码范围
535-538
出版商
Wiley Subscription Services, Inc., A Wiley Company
简介
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. Ann Neurol 2008
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MA Gitcho, RH Baloh, S Chakraverty, K Mayo… - Annals of Neurology: Official Journal of the American …, 2008