TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation.
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.
University of Oxford, MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, Oxford, UK.
D
D
Bäumer
N
N
Parkinson
K
K
Talbot
D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001483:Base Sequence; D056915:DNA Copy Number Variations; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree
D004268:DNA-Binding Proteins