Glucocerebrosidase mutations in a Serbian Parkinson's disease population. Issue 2 (20th July 2012)

• Record Type: Journal Article
• Authors: 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.; Grünewald, A.
• Is Part Of: European journal of neurology. Volume 20:Issue 2(2013:Feb.)
• Page Start: 402
• Page End: 405
• Publication Date: 2012-07-20
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/j.1468-1331.2012.03817.x
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene3817-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ene3817-sec-0001" sec-type="section"> <title>Background and purpose</title> <p>To screen for <italic>glucocerebrosidase</italic> (<italic>GBA</italic>) mutations in a Serbian Parkinson's disease (PD) population.</p> </sec> <sec id="ene3817-sec-0002" sec-type="section"> <title>Methods</title> <p> <italic>Glucocerebrosidase</italic> 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.</p> </sec> <sec id="ene3817-sec-0003" sec-type="section"> <title>Results</title> <p> <italic>Glucocerebrosidase</italic> 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; <italic>P</italic> = 0.0041). Two patients with PD carried homozygous or compound heterozygous mutations in <italic>GBA</italic>. 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.</p> </sec> <sec id="ene3817-sec-0004" sec-type="section"> <title>Conclusion</title> <p> <italic>Glucocerebrosidase</italic> mutations represent a PD risk factor in the Serbian population.</p> </sec> </abstract>