Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis
Mutation frequency of the two main Amyotrophic Lateral Sclerosis (ALS)-related genes, C9orf72 and SOD1, varies considerably across the world. We analyzed those genes in a large population of Portuguese ALS patients (n=371) and recorded demographic and clinical features.Familial ALS (FALS) was disclosed in 11.6% of patients. Mutations in either SOD1 or C9orf72 were found in 9.2% of patients and accounted for 40% of FALS and 5.2% of sporadic ALS (SALS). SOD1 mutations were rare (0.83%), but a novel and probably disease-causing mutation was identified: p.Ala152Pro (c.457G>C).
Source: Neurobiology of Aging - Category: Neuroscience Authors: Marta Gromicho, Susana Pinto, Eugeniu Gisca, Ana Catarina Pronto-Laborinho, Mamede de Carvalho Source Type: research