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.
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 ALSpatients 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 ALSpatients to 17, further suggesting that mutations in the TARDBP gene have an important role in the pathogenesis of ALS.
Authors: Dandi Qiao; Christoph Lange; Nan M Laird; Sungho Won; Craig P Hersh; Jarrett Morrow; Brian D Hobbs; Sharon M Lutz; Ingo Ruczinski; Terri H Beaty; Edwin K Silverman; Michael H Cho Journal: Genet Epidemiol Date: 2017-02-13 Impact factor: 2.135
Authors: Erika N Guerrero; Haibo Wang; Joy Mitra; Pavana M Hegde; Sara E Stowell; Nicole F Liachko; Brian C Kraemer; Ralph M Garruto; K S Rao; Muralidhar L Hegde Journal: Prog Neurobiol Date: 2016-09-28 Impact factor: 11.685