Mutations in the glucocerebrosidase gene and Parkinson disease: Phenotype–genotype correlation
- 8 November 2005
- journal article
- research article
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 65 (9), 1460-1461
- https://doi.org/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.Keywords
This publication has 9 references indexed in Scilit:
- Parkinsonism among Gaucher disease carriersJournal of Medical Genetics, 2004
- Mutations in the Glucocerebrosidase Gene and Parkinson's Disease in Ashkenazi JewsNew England Journal of Medicine, 2004
- Impaired Degradation of Mutant α-Synuclein by Chaperone-Mediated AutophagyScience, 2004
- Genetic clues to the pathogenesis of Parkinson's diseaseNature Medicine, 2004
- Neuropathology provides clues to the pathophysiology of Gaucher diseaseMolecular Genetics and Metabolism, 2004
- Effects of Parkinson's Disease-Linked Mutations on the Structure of Lipid-Associated α-SynucleinBiochemistry, 2004
- Glucocerebrosidase mutations in subjects with parkinsonismMolecular Genetics and Metabolism, 2004
- Improved accuracy of clinical diagnosis of Lewy body Parkinson’s diseaseNeurology, 2001
- Elevation of Intracellular Glucosylceramide Levels Results in an Increase in Endoplasmic Reticulum Density and in Functional Calcium Stores in Cultured NeuronsPublished by Elsevier BV ,1999