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: Our study was to assess the contribution of known genes in a cohort diagnosed with either familial (FPD) or early-onset sporadic PD (EOPD) from southern Spain, mainly Granada and its area of influence.
Background: To date, a large spectrum of genetic variants has been related to familial and sporadic Parkinson’s disease (PD) in diverse populations worldwide. However, very little is known about the genetic landscape of PD in Southern Spain, despite its particular genetic landscape coming from multiple historical migrations.
Methods: 134 patients were included in the study of which 97 individuals were diagnosed with late-onset sporadic PD (LOPD), 28 with early-onset sporadic PD (EOPD) and 9 with familial (FPD). Genetic analysis was performed through a next-generation sequencing panel to sequence 8 PD-related genes (LRRK2, SNCA, PARKIN, PINK1, DJ-1, VPS35, GBA and GCH1) in EOPD and FPD groups and direct Sanger sequencing of GBA exons 8-11 and LRRK2 exons 31 and 41 in the LOPD group.
Results: In the EOPD and FPD groups, we identified 11 known pathogenic mutations among 15 patients (40.5 %). GBA (E326K, N370S, D409H, L444P) mutations were identified in 7 patients (18.9 %); LRRK2 (p.R1441G and p.G2019S) in 3 patients (8.1 %); bi-allelic PARK2 mutations (p.N52fs, p.V56E, p.C212Y) in 4 cases (10.8%) and PINK1 homozygous p.G309D in one patient (2.7 %). An EOPD patient carried a single PARK2 heterozygous mutation (p.R402C) and another had a novel heterozygous mutation in VPS35 (p.R32S), both of unknown significance. Moreover, pathogenic mutations in GBA (E326K, T369M, N370S, D409H, L444P) and LRRK2 (p.R1441G and p.G2019S) were identified in 13 patients (13.4 %) and 4 patients (4.1 %), respectively, in the LOPD group.
Conclusions: A large number of known pathogenic mutations related to PD have been identified. In particular, GBA and LRRK2 mutations appear to be considerably frequent in our population, suggesting a strong influence from the Jewish population. Further research is needed to study the contribution of the novel found mutation p.R32S in VPS35 to the pathogenesis of PD.
To cite this abstract in AMA style:
S. Bandres-Ciga, N.E. Mencacci, R. Durán, F.J. Barrero Hernández, F. Escamilla-Sevilla, S. Morgan, J. Hehir, F. Vives, J. Hardy, A.M. Pittman. Analysis of the genetic variability in Parkinson’s disease from southern Spain [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/analysis-of-the-genetic-variability-in-parkinsons-disease-from-southern-spain/. Accessed May 17, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/analysis-of-the-genetic-variability-in-parkinsons-disease-from-southern-spain/