Community-based genetic study of Parkinson's disease in Estonia

Mari Muldmaa, Niccolò Emanuele Mencacci, Alan Pittman, Liis Kadastik-Eerme, Katrin Sikk, Pille Taba, John Hardy, Sulev Kõks*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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%.

Original languageEnglish (US)
Pages (from-to)89-95
Number of pages7
JournalActa Neurologica Scandinavica
Issue number1
StatePublished - Jan 2021


  • Parkinson's disease
  • genetics
  • multiplex ligation-dependent probe amplification
  • next-generation sequencing

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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