Article
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.
Neurology - 8 May 2012
Corcia P, Valdmanis P, Millecamps S, Lionnet C, Blasco H, Mouzat K, Daoud H, Belzil V, Morales R, Pageot N, Danel-Brunaud V, Vandenberghe N, Pradat P F, Couratier P, Salachas F, Lumbroso S, Rouleau G A, Meininger V, Camu W
Abstract excerpt
OBJECTIVE: To describe the phenotype and phenotype-genotype correlations in patients with amyotrophic lateral sclerosis (ALS) with TARDBP gene mutations. METHODS: French TARDBP+ patients with ALS (n = 28) were compared first to 3 cohorts: 737 sporadic ALS (SALS), 192 nonmutated familial ALS (FALS), and 58 SOD1 + FALS, and then to 117 TARDBP+ cases from the literature. Genotype-phenotype correlations were studied...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.