Abstract:
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.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Daoud H,Valdmanis PN,Kabashi E,Dion P,Dupré N,Camu W,Meininger V,Rouleau GAdoi
10.1136/jmg.2008.062463subject
Has Abstractpub_date
2009-02-01 00:00:00pages
112-4issue
2eissn
0022-2593issn
1468-6244pii
jmg.2008.062463journal_volume
46pub_type
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