TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation (original) (raw)

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

D Bäumer1,2,
N Parkinson1,
K Talbot1,2
1
University of Oxford, MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, Oxford, UK
2
Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK
Correspondence to Dr K Talbot, MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK; kevin.talbot{at}clneuro.ox.ac.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.

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