title: An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease.
abstract: Parkinson's disease (PD) is the second most common neurodegenerative disorder, with cases of either familial or sporadic origin. Several polymorphisms in a number of genes have been proved to have an important role in the development of PD. Particular attention has recently been paid to genes of the glucocerebrosidase (GBA) and the vacuolar protein sorting-associated protein 35 (VPS35). In this study, the three most common mutations (L444P, N370S and R120W) of the GBA gene and the D620N mutation of the VPS35 gene were examined in 124 Hungarian patients diagnosed with sporadic PD (SPD) and 122 control subjects. The frequency of the L444P mutation of the GBA gene proved to be higher in the PD patients (2.4%) than in the controls (0%), although the difference was not statistically significant. All the patients who carried the mutant allele were in the early-onset PD (EOPD) group. However, neither the R120W nor the N370S variant of the GBA gene nor D620N mutation of the VPS35 gene were detected among the PD cases or the controls. Even though these results suggest that the studied mutations are quite rare in SPD patients, the most frequent L444P mutation of the GBA gene may be associated with the development of EOPD in the Hungarian population.
authors.affiliation: Department of Neurology, University of Szeged, H-6725 Szeged, Semmelweis u. 6, Hungary.
authors.forename: Rita
authors.initials: R
authors.lastname: Török
authors.affiliation: Department of Neurology, University of Szeged, H-6725 Szeged, Semmelweis u. 6, Hungary.
authors.forename: Dénes
authors.initials: D
authors.lastname: Zádori
authors.affiliation: Department of Neurology, University of Szeged, H-6725 Szeged, Semmelweis u. 6, Hungary.
authors.forename: Nóra
authors.initials: N
authors.lastname: Török
authors.affiliation: Department of Neurology, University of Szeged, H-6725 Szeged, Semmelweis u. 6, Hungary.
authors.forename: Éva
authors.initials: É
authors.lastname: Csility
authors.affiliation: Department of Neurology, University of Szeged, H-6725 Szeged, Semmelweis u. 6, Hungary; MTA-SZTE Neuroscience Research Group, H-6725 Szeged, Semmelweis u. 6, Hungary.
authors.forename: László
authors.initials: L
authors.lastname: Vécsei
authors.affiliation: Department of Neurology, University of Szeged, H-6725 Szeged, Semmelweis u. 6, Hungary. Electronic address: klivenyi.peter@med.u-szeged.hu.
authors.forename: Péter
authors.initials: P
authors.lastname: Klivényi
mesh_terms: D017668:Age of Onset; D000368:Aged; D016022:Case-Control Studies; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D006814:Hungary; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C419573:VPS35 protein, human; D033921:Vesicular Transport Proteins; D005962:Glucosylceramidase
keywords: GBA mutations; L444P; Parkinson’s disease; VPS35 mutation