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 John Caselli, Matt Baker, Muhammad T. Al-Lozi, John C. Morris, Alan Pestronk, Rosa V Rademakers, Alison M. Goate, Nigel J. Cairns

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)535-538
Number of pages4
JournalAnnals of Neurology
Volume63
Issue number4
DOIs
StatePublished - Apr 2008

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Motor Neuron Disease
DNA-Binding Proteins
Mutation
Missense Mutation
Neurodegenerative Diseases
Genes
Healthy Volunteers

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Gitcho, M. A., Baloh, R. H., Chakraverty, S., Mayo, K., Norton, J. B., Levitch, D., ... Cairns, N. J. (2008). TDP-43 A315T mutation in familial motor neuron disease. Annals of Neurology, 63(4), 535-538. https://doi.org/10.1002/ana.21344

TDP-43 A315T mutation in familial motor neuron disease. / Gitcho, Michael A.; Baloh, Robert H.; Chakraverty, Sumi; Mayo, Kevin; Norton, Joanne B.; Levitch, Denise; Hatanpaa, Kimmo J.; White, Charles L.; Bigio, Eileen H.; Caselli, Richard John; Baker, Matt; Al-Lozi, Muhammad T.; Morris, John C.; Pestronk, Alan; Rademakers, Rosa V; Goate, Alison M.; Cairns, Nigel J.

In: Annals of Neurology, Vol. 63, No. 4, 04.2008, p. 535-538.

Research output: Contribution to journalArticle

Gitcho, MA, Baloh, RH, Chakraverty, S, Mayo, K, Norton, JB, Levitch, D, Hatanpaa, KJ, White, CL, Bigio, EH, Caselli, RJ, Baker, M, Al-Lozi, MT, Morris, JC, Pestronk, A, Rademakers, RV, Goate, AM & Cairns, NJ 2008, 'TDP-43 A315T mutation in familial motor neuron disease', Annals of Neurology, vol. 63, no. 4, pp. 535-538. https://doi.org/10.1002/ana.21344
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D et al. TDP-43 A315T mutation in familial motor neuron disease. Annals of Neurology. 2008 Apr;63(4):535-538. https://doi.org/10.1002/ana.21344
Gitcho, Michael A. ; Baloh, Robert H. ; Chakraverty, Sumi ; Mayo, Kevin ; Norton, Joanne B. ; Levitch, Denise ; Hatanpaa, Kimmo J. ; White, Charles L. ; Bigio, Eileen H. ; Caselli, Richard John ; Baker, Matt ; Al-Lozi, Muhammad T. ; Morris, John C. ; Pestronk, Alan ; Rademakers, Rosa V ; Goate, Alison M. ; Cairns, Nigel J. / TDP-43 A315T mutation in familial motor neuron disease. In: Annals of Neurology. 2008 ; Vol. 63, No. 4. pp. 535-538.
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