Publicação

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

Ver documento

Detalhes bibliográficos
Resumo:Mutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. Here we report the results found in a cohort of Portuguese Parkinson disease patients and healthy age-matched controls for mutations in the aforementioned gene. This screening was accomplished by sequencing the complete open-reading frame, as well as intron/exon boundaries, of the glucocerebrosidase gene, in a total of 230 patients and 430 controls. We have found an increased number of Parkinson disease patients presenting mutations in GBA when compared to controls. These results, together with recent literature, clearly suggest a role of glucocerebrosidase in the development of Parkinson disease.
Autores principais:Brás, JM
Outros Autores:Paisan-Ruiz, C; Guerreiro, C; Ribeiro, MH; Morgadinho, A; Januário, C; Sidransky, E; Oliveira, CR; Singleton, A
Assunto:Doença de Parkinson Predisposição Genética para Doença Glucosilceramidase
Ano:2009
País:Portugal
Tipo de documento:artigo
Tipo de acesso:acesso aberto
Instituição associada:Centro Hospitalar e Universitário de Coimbra
Idioma:inglês
Origem:Repositório do Centro Hospitalar e Universitário de Coimbra

Registos relacionados

Registos relacionados