Glucocerebrosidase mutations in a Serbian Parkinson's disease population
Article first published online: 19 JUL 2012
© 2012 The Author(s) European Journal of Neurology © 2012 EFNS
European Journal of Neurology
Volume 20, Issue 2, pages 402–405, February 2013
How to Cite
Kumar, K. R., Ramirez, A., Göbel, A., Kresojević, N., Svetel, M., Lohmann, K., M Sue, C., Rolfs, A., Mazzulli, J. R., Alcalay, R. N., Krainc, D., Klein, C., Kostic, V. and Grünewald, A. (2013), Glucocerebrosidase mutations in a Serbian Parkinson's disease population. European Journal of Neurology, 20: 402–405. doi: 10.1111/j.1468-1331.2012.03817.x
- Issue published online: 12 JAN 2013
- Article first published online: 19 JUL 2012
- Manuscript Accepted: 12 JUN 2012
- Manuscript Received: 7 MAR 2012
- Ministry of Education and Science of the Republic of Serbia. Grant Number: 175090
- Dora Lush NHMRC postgraduate scholarship. Grant Number: 175090
- Dora Lush National Health Medical Research Council. Grant Numbers: National Institutes of Health , F32NS066730
- Ministry of Education and Science of the Republic of Serbia. Grant Numbers: National Institutes of Health , F32NS066730
- Australian Brain Foundation, the Parkinson's NSW Foundation
- the Australian Department of Health and Aging and the National Health and Medical Research Council of Australia
- National Institutes of Health . Grant Number: F32NS066730
- Parkinson's Disease Foundation H
- Brookdale Foundation
- National Institutes of Health
- Volkswagen Foundation
- Gaucher disease;
- Parkinson's disease;
Background and purpose
To screen for glucocerebrosidase (GBA) mutations in a Serbian Parkinson's disease (PD) population.
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.
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.
Glucocerebrosidase mutations represent a PD risk factor in the Serbian population.