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

doi:10.1002/ana.21344

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

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537 Scopus citations

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 language	English (US)
Pages (from-to)	535-538
Number of pages	4
Journal	Annals of Neurology
Volume	63
Issue number	4
DOIs	https://doi.org/10.1002/ana.21344
State	Published - Apr 2008

ASJC Scopus subject areas

Neurology
Clinical Neurology

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Gitcho, M. A., Baloh, R. H., Chakraverty, S., Mayo, K., Norton, J. B., Levitch, D., Hatanpaa, K. J., White, C. L., Bigio, E. H., Caselli, R., Baker, M., Al-Lozi, M. T., Morris, J. C., Pestronk, A., Rademakers, R., Goate, A. M., & 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

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title = "TDP-43 A315T mutation in familial motor neuron disease",

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.",

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

year = "2008",

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doi = "10.1002/ana.21344",

language = "English (US)",

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AU - Gitcho, Michael A.

AU - Baloh, Robert H.

AU - Chakraverty, Sumi

AU - Mayo, Kevin

AU - Norton, Joanne B.

AU - Levitch, Denise

AU - Hatanpaa, Kimmo J.

AU - White, Charles L.

AU - Bigio, Eileen H.

AU - Caselli, Richard

AU - Baker, Matt

AU - Al-Lozi, Muhammad T.

AU - Morris, John C.

AU - Pestronk, Alan

AU - Rademakers, Rosa

AU - Goate, Alison M.

AU - Cairns, Nigel J.

PY - 2008/4

Y1 - 2008/4

N2 - 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.

AB - 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.

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JO - Annals of Neurology

JF - Annals of Neurology

IS - 4

ER -

TDP-43 A315T mutation in familial motor neuron disease

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