Aims and background: Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS.
Results: Six individuals had potentially deleterious mutations of which three were novel including a Y374X truncating mutation and P363A and A382P missense mutations. This suggests that TARDBP mutations may predispose to ALS in approximately 2% of the individuals followed in this study.
Conclusion: Our findings, combined with those from other collections, brings the total number of mutations in unrelated ALS patients to 17, further suggesting that mutations in the TARDBP gene have an important role in the pathogenesis of ALS.
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Additional figures are published online only at http://jmg.bmj.com/content/vol46/issue2
Funding: GAR is funded by the Canadian Institutes of Health Research (CIHR), Muscular Dystrophy Association USA and ALS Association (ALSA), EK is funded by ALS Canada and CIHR, ND by CIHR, PNV by the Fonds de Recherche en Sante Quebec (FRSQ) and VM by the Association Francaise contre les Myopathies France (AMF) and the Association pour la Recherche sur la Sclerose Laterale Amyotrophique (ARS).
Competing interests: None.
Patient consent: Obtained.