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;
- Received 28 October 2008
- Revised 26 November 2008
- Accepted 26 November 2008
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.
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.