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Ann Neurol. 2008 Apr;63(4):535-8. doi: 10.1002/ana.21344.

TDP-43 A315T mutation in familial motor neuron disease.

Author information

  • 1Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA.

Abstract

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.

PMID:
18288693
[PubMed - indexed for MEDLINE]
PMCID:
PMC2747362
Free PMC Article
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