Journal
JOURNAL OF MEDICAL GENETICS
Volume 46, Issue 2, Pages 112-114Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.2008.062463
Keywords
-
Categories
Funding
- Canadian Institutes of Health Research (CIHR)
- Muscular Dystrophy Association USA
- ALS Association (ALSA)
- PNV
- Fonds de Recherche en Sante Quebec (FRSQ)
- Association Francaise contre les Myopathies France (AMF)
- Association pour la Recherche sur la Sclerose Laterale Amyotrophique (ARS)
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available