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J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1283-5. doi: 10.1136/jnnp.2008.166512.

TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation.

Author information

1
University of Oxford, MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, Oxford, UK.

Abstract

BACKGROUND:

Mutations in the gene encoding TDP-43 have been identified in both familial and sporadic amyotrophic lateral sclerosis (ALS).

METHODS:

A mutation screen and copy number analysis in a motor neuron disease clinic cohort was conducted to characterise the genetic contribution of TARDBP.

RESULTS:

A novel missense mutation in a highly conserved region of TDP-43 was identified in a patient with sporadic ALS. The mutation is in close vicinity to previously identified changes. Copy number variation abnormalities were not detected.

CONCLUSIONS:

The findings stress the importance of TDP-43 in the pathogenesis of sporadic ALS.

PMID:
19864663
DOI:
10.1136/jnnp.2008.166512
[Indexed for MEDLINE]

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