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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.

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