Reference : Glucocerebrosidase mutations in a Serbian Parkinson's disease population.
Scientific journals : Article
Life sciences : Genetics & genetic processes
Glucocerebrosidase mutations in a Serbian Parkinson's disease population.
Kumar, K. R. [> >]
Ramirez, A. [> >]
Gobel, A. [> >]
Kresojevic, N. [> >]
Svetel, M. [> >]
Lohmann, K. [> >]
M Sue, C. [> >]
Rolfs, A. [> >]
Mazzulli, J. R. [> >]
Alcalay, R. N. [> >]
Krainc, D. [> >]
Klein, Christine [> >]
Kostic, V. [> >]
Grünewald, Anne [> >]
European journal of neurology
Yes (verified by ORBilu)
[en] Adult ; Aged ; Aged, 80 and over ; Alleles ; Case-Control Studies ; European Continental Ancestry Group/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genotype ; Glucosylceramidase/genetics ; Humans ; Jews/genetics ; Male ; Middle Aged ; Mutation ; Parkinson Disease/genetics ; Serbia
[en] BACKGROUND AND PURPOSE: To screen for glucocerebrosidase (GBA) mutations in a Serbian Parkinson's disease (PD) population. METHODS: Glucocerebrosidase exons 8-11 harbouring the most common mutations were sequenced in 360 patients with PD and 348 controls from Serbia. Haplotype analysis was performed for the N370S mutation and compared with German and Ashkenazi Jewish carriers. RESULTS: Glucocerebrosidase mutations were significantly more frequent in patients with PD (21/360; 5.8%) vs. controls (5/348; 1.4%; OR = 4.25; CI, 1.58-11.40; P = 0.0041). Two patients with PD carried homozygous or compound heterozygous mutations in GBA. The N370S mutation accounted for about half of the mutated alleles in patients (10/23) but was absent amongst controls. Three novel variants were detected including two non-synonymous variants (D380V, N392S) in the patient group and one synonymous change (V459V) in a control. Carriers of the D409H mutation were also sequenced for H255Q, and all were found to carry the [D409H; H255Q] double-mutant allele. Genotyping suggested a common haplotype for all N370S carriers. CONCLUSION: Glucocerebrosidase mutations represent a PD risk factor in the Serbian population.
Researchers ; Students
(c) 2012 The Author(s) European Journal of Neurology (c) 2012 EFNS.

There is no file associated with this reference.

Bookmark and Share SFX Query

All documents in ORBilu are protected by a user license.