title: Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.
abstract: Mutations in the glucocerebrosidase (GBA) gene have been recently identified as contributory to Parkinson disease (PD) in Ashkenazi Jews. In the present study, the clinical characteristics of Ashkenazi patients with PD with GBA mutations (n = 40) were compared to those of Ashkenazi patients with PD without any known GBA mutation (n = 108). The overall clinical manifestations and age at disease onset did not differ in patients with GBA mutations compared to patients without mutations.
authors.affiliation: Department of Neurology, Rambam Medical Center, Haifa, Israel. jaharon@rambam.health.gov.il
authors.forename: Judith
authors.initials: J
authors.lastname: Aharon-Peretz
authors.forename: Samih
authors.initials: S
authors.lastname: Badarny
authors.forename: Hanna
authors.initials: H
authors.lastname: Rosenbaum
authors.forename: Ruth
authors.initials: R
authors.lastname: Gershoni-Baruch
mesh_terms: D017668:Age of Onset; D000368:Aged; D001921:Brain / Q000201:enzymology* / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics / Q000503:physiopathology; D018450:Disease Progression; D004351:Drug Resistance / Q000235:genetics; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D012737:Sex Factors
chemical_list: D005962:Glucosylceramidase