TDP-43 A315T mutation in familial motor neuron disease

Michael A. Gitcho, Robert H. Baloh, Sumi Chakraverty, Kevin Mayo, Joanne B. Norton, Denise Levitch, Kimmo J. Hatanpaa, Charles L. White, Eileen H. Bigio, Richard Caselli, Matt Baker, Muhammad T. Al-Lozi, John C. Morris, Alan Pestronk, Rosa Rademakers, Alison M. Goate, Nigel J. Cairns

Research output: Contribution to journalArticlepeer-review

481 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)535-538
Number of pages4
JournalAnnals of neurology
Issue number4
StatePublished - Apr 2008

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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