Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation

Judith Aharon-Peretz; Samih Badarny; Hanna Rosenbaum; Ruth Gershoni-Baruch

doi:10.1212/01.wnl.0000176987.47875.28

Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation

Neurology. 2005 Nov 8;65(9):1460-1. doi: 10.1212/01.wnl.0000176987.47875.28. Epub 2005 Sep 7.

Authors

Judith Aharon-Peretz¹, Samih Badarny, Hanna Rosenbaum, Ruth Gershoni-Baruch

Affiliation

¹ Department of Neurology, Rambam Medical Center, Haifa, Israel. jaharon@rambam.health.gov.il

PMID: 16148263
DOI: 10.1212/01.wnl.0000176987.47875.28

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.

Publication types

Comparative Study

MeSH terms

Age of Onset
Aged
Brain / enzymology*
Brain / physiopathology*
DNA Mutational Analysis
Dementia / genetics
Dementia / physiopathology
Disease Progression
Drug Resistance / genetics
Female
Gaucher Disease / complications
Gaucher Disease / genetics
Genetic Predisposition to Disease / genetics*
Genetic Testing
Genetic Variation / genetics
Genotype
Glucosylceramidase / genetics*
Heterozygote
Humans
Male
Middle Aged
Mutation / genetics*
Parkinson Disease / enzymology*
Parkinson Disease / ethnology
Parkinson Disease / genetics*
Phenotype
Polymorphism, Genetic / genetics
Sex Factors

Substances

Glucosylceramidase