Objective: The aim of our study was to find genetic variants associated with the familial forms of Parkinson’s disease (PD) in Polish population.

Background: PD is the second most common neurodegenerative disorder, with the prevalence of about 1% in people over 60 years of age. Approximately 15% PD cases are familial, monogenic. Genetic background of familial PD, has not been very well analysed in Polish population.

Method: We included into analysis 23 families with at least 2 affected members (mean age 56.0±13.9 and mean age of onset 49.0±15.8). General and neurological examination was performed in all patients. Sanger sequencing and MLPA in LRRK2, PRKN, DJ1, PINK1 and SNCA was performed as a first step. The Whole exome sequencing (WES) was performed for the single probands. Identified variants were confirmed by Sanger sequencing, and cosegregation of genotype-phenotype.

Results: The performed analysis revealed 3 pathogenic compound heterozygotes in PRKN and 1 heterozygote in LRRK2. What is more, also 6 variants of uncertain significance was found in analyzed families. PRKN patients had early onset PD and LRRK2 carriers had typical PD with good response to levodopa.

Conclusion: Polish PD families have some characteristic variants in genes associated with PD. VUS requires further analysis. Larger population is required to establish the prevalence of the PD genes in Polish population.

References: The data were partially presented during 5th EAN Congress.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetics-of-parkinsons-disease-in-polish-patients-with-positive-family-history-preeliminary-study/