Journal
ANNALS OF NEUROLOGY
Volume 63, Issue 4, Pages 535-538Publisher
WILEY
DOI: 10.1002/ana.21344
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Funding
- NCRR NIH HHS [K12-RR023249, K12 RR023249] Funding Source: Medline
- NIA NIH HHS [P01-AG03991, P50 AG005681, U01 AG016976, P50-AG05681, P30 AG013854, P50-AG16574, U01-AG16976, P30-AG13854, P01 AG003991, P50 AG016574, P30 AG013854-13] Funding Source: Medline
- NIMH NIH HHS [R01 MH057899, R01-MH57899-01A1] Funding Source: Medline
- NINDS NIH HHS [P30 NS057105, P30-NS057105] Funding Source: Medline
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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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