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

Journal article

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.

Authors: Bäumer, D; Parkinson, N; Talbot, K

• Journal: Journal of neurology, neurosurgery, and psychiatry
• Volume: 80
• Issue: 11
• Pages: 1283-1285
• Publication date: 2009-11-01
• DOI: 10.1136/jnnp.2008.166512
• EISSN: 1468-330X
• ISSN: 0022-3050
• Language: English
• Keywords: Female; Molecular Sequence Data; DNA Copy Number Variations; Male; Amyotrophic Lateral Sclerosis; Mutation, Missense; Pedigree; Aged; DNA-Binding Proteins; Base Sequence; Middle Aged; Humans