Article
Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Oct 2018
Gromicho Marta, Pinto Susana, Gisca Eugeniu, Pronto-Laborinho Ana Catarina, Andersen Peter M, de Carvalho Mamede
Abstract excerpt
Mutation frequency of the 2 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%...
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