Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

• Autor(a) principal: Brás, JM
• Data de Publicação: 2009
• Outros Autores: Paisan-Ruiz, C, Guerreiro, C, Ribeiro, MH, Morgadinho, A, Januário, C, Sidransky, E, Oliveira, CR, Singleton, A
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.4/896
• topic: Doença de Parkinson; Predisposição Genética para Doença; Glucosilceramidase

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.