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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.

Original publication




Journal article


J Neurol Neurosurg Psychiatry

Publication Date





1283 - 1285


Aged, Amyotrophic Lateral Sclerosis, Base Sequence, DNA Copy Number Variations, DNA-Binding Proteins, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Pedigree