TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation
- 1University of Oxford, MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, Oxford, UK
- 2Department 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
- Received 28 October 2008
- Revised 26 November 2008
- Accepted 26 November 2008
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.
Footnotes
-
Funding Work in our laboratory is supported by grants from the Motor Neuron Disease Association, the Spinal Muscular Atrophy Trust and the Muscular Dystrophy Campaign.
-
Competing interests None.
-
Ethics approval Ethics approval for the study was obtained from the Oxfordshire Research Ethics Committee, Oxford, UK.
