Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.4/896
Título: Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
Autor: Brás, JM
Paisan-Ruiz, C
Guerreiro, C
Ribeiro, MH
Morgadinho, A
Januário, C
Sidransky, E
Oliveira, CR
Singleton, A
Palavras-chave: Doença de Parkinson
Predisposição Genética para Doença
Glucosilceramidase
Data: 2009
Editora: Elsevier
Citação: Neurobiol Aging. 2009 Sep;30(9):1515-7.
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.
Peer review: yes
URI: http://hdl.handle.net/10400.4/896
Aparece nas colecções:NEU - Artigos

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