title: Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.
abstract: 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.
authors.affiliation: Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Jose
authors.initials: J
authors.lastname: Bras
authors.forename: Coro
authors.initials: C
authors.lastname: Paisan-Ruiz
authors.forename: Rita
authors.initials: R
authors.lastname: Guerreiro
authors.forename: Maria Helena
authors.initials: MH
authors.lastname: Ribeiro
authors.forename: Ana
authors.initials: A
authors.lastname: Morgadinho
authors.forename: Cristina
authors.initials: C
authors.lastname: Januario
authors.forename: Ellen
authors.initials: E
authors.lastname: Sidransky
authors.forename: Catarina
authors.initials: C
authors.lastname: Oliveira
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
mesh_terms: D001921:Brain / Q000201:enzymology* / Q000503:physiopathology; D016022:Case-Control Studies; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D015971:Gene Expression Regulation, Enzymologic / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016366:Open Reading Frames; D010300:Parkinson Disease / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011174:Portugal
chemical_list: D005819:Genetic Markers; D005962:Glucosylceramidase