Genetics of Parkinson’s disease in the Polish population

Introduction. Genetic forms of Parkinson’s disease (PD) often cluster in different ethnic groups and may present with recognisable unique clinical manifestations. Our aim was to summarise the current state knowledge regarding genetic causes PD describe first Polish patient SNCA duplication. Methodology. We searched electronic database, PubMed, for studies between January 1995 June 2020 that evaluated genetics patients PD, using search terms ‘Parkinson’s disease, ‘Polish’, ‘genetics’, ‘mutations’, ‘variants’. Results. In total, 73 publications were included review; 11 genes responsible monogenic 19 risk factor have been analysed population. Pathogenic variants reported four (LRRK2, PRKN, PINK1, SNCA). Eight associated population (GBA, TFAM, NFE2L2, MMP12, HLA-DRA, COMT, MAOB, DBH). Multiplex ligation-dependent probe amplification Sanger sequencing DJ1, LRRK2, revealed duplication a 43-year-old examined by movement disorder specialists. Conclusion. Only limited number positive results previously era personalised medicine, it is important report on findings specific populations.