Session Information
Date: Tuesday, June 21, 2016
Session Title: Parkinson's disease: Genetics
Session Time: 12:30pm-2:00pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To evaluate prevalence of disease causing mutations and other rare variants in patients with the Early-Onset Parkinson’s disease (EOPD).
Background: Currently, there are four well established loci causative for PD with autosomal dominant mode of inheritance and nine with autosomal recessive one. Recent studies however suggest further 12 loci with possible autosomal dominant mode of inheritance which require further validation. Apart disease causing genes, there are strong risk factors increasing probability of PD manifestation during the life. Currently, there are 5 such loci, among which the GBA gene is being most investigated.
Methods: The study population consisted of 49 patients of Czech origin with age at onset of PD below 41 years of age and with negative family history. We have conducted a whole exome sequencing analysis using the next generations sequencing platform. Detected variants were compared to public databases such as ExAC project and with an in-house set of 4353 exome results.
Results: Out of classical PD loci, we have found likely causative variants in 3 patients (6.1%) in the genes LRRK2, PINK1 and PARK2. In the loci requiring further validations, we found other 2 rare variants, which have been previously described in PD patients (gene VPS35 and ASNA1). In the controversial locus EIF1G4 we detected 3 rare variants, which have not been previously described. Out of widely accepted risk factors for EOPD, we found known variants only in the GBA locus. The prevalence of all pathological variants in the GBA locus was 10.2% (5 patients, each with one variant).
Conclusions: In our whole exome sequencing experiment in EOPD patients of the Czech ancestry with negative family history, we have found relatively low prevalence of the established Mendelian causes of PD, but confirmed similar prevalence of GBA mutations, as in other European populations.
To cite this abstract in AMA style:
D. Kemlink, B. Schormair, O. Fiala, D. Zahorakova, P. Martasek, J. Roth, J. Winkelmann, E. Ruzicka. Exome sequencing in the Czech patients with early-onset Parkinson’s disease [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/exome-sequencing-in-the-czech-patients-with-early-onset-parkinsons-disease/. Accessed July 14, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/exome-sequencing-in-the-czech-patients-with-early-onset-parkinsons-disease/