1. Community-based genetic study of Parkinson´s disease in Estonia
- Author
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Muldmaa, M, Mencacci, NE, Pittman, A, Kadastik-Eerme, L, Sikk, K, Taba, P, Hardy, J, and Kõks, S
- 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), any rare genetic variant was present in 21.2% (40/189) of the patients and in 8.2% (13/158) of the controls (p
- Published
- 2020