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

Article Details

Citation

Aharon-Peretz J, Badarny S, Rosenbaum H, Gershoni-Baruch R

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

Neurology. 2005 Nov 8;65(9):1460-1. Epub 2005 Sep 7.

PubMed ID
16148263 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
GlucosylceramidaseP04062Details