Muldmaa, M;
Mencacci, NE;
Pittman, A;
Kadastik-Eerme, L;
Sikk, K;
Taba, P;
Hardy, J;
(2021)
Community-based genetic study of Parkinson's disease in Estonia.
Acta Neurologica Scandinavica
, 143
(1)
pp. 89-95.
10.1111/ane.13329.
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Abstract
Objective: To examine the genetic variability of Estonian Parkinson's disease (PD) patients using an ongoing epidemiological study in combination with a genetic analysis. / Methods: This study was a community‐based genetic screening study of 189 PD patients, and 158 age‐ and sex‐matched controls screened for potential mutations in 9 PD genes using next‐generation sequencing and multiplex ligation‐dependent probe amplification method. Different clinimetric scales and questionnaires were used to examine PD patients and assess clinical characteristics and severity of the disease. / Results: The overall frequency of pathogenic PD‐causing variants was 1.1% (2/189), and any rare genetic variant was present in 21.2% (40/189) of the patients and in 8.2% (13/158) of the controls (P < .05). Variants of unknown significance accounted for 10.6% (20/189). Frequency of any GBA variant among PD patients was 10.1% (19/189) and in controls 3.8% (6/158). The frequency of any GBA variant in PD compared to controls was significantly higher (P = .035; OR 2.82; CI 95% 1.05‐8.87). Burden of rare variants was not different between patients and controls. Also, a novel GBA pathogenic variant p.E10X was detected. / Conclusion: Among different genetic variants identified in Estonian PD patients, GBA variants are the most common, while an overall pathogenic variant frequency was 1.1%.
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