• Diana A Olszewska, Allan McCarthy, Alexandra I Soto-Beasley, Ronald L Walton, Owen A Ross, and Tim Lynch.
• The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland. diana.angelika.olszewska@gmail.com.
• Ir J Med Sci. 2022 Apr 1; 191 (2): 901907901-907.

BackgroundVariants in PARKIN, PINK1, and DJ1 are associated with early-onset Parkinson' disease (EOPD, age-at-onset < 45). We previously reported a single PINK1 and a single DJ1 heterozygous variant carrier.PurposeWe aimed to expand upon our previous EOPD studies and investigate for any genotype-phenotype correlations in Irish PD.MethodsThree hundred fourteen PD patients were recruited from Dublin Neurological Institute, Ireland. Genetic analysis was performed at the Mayo Clinic, Jacksonville, USA. We screened 81 patients with young-onset PD (age-at-onset < 50), of which 58 had EOPD.ResultsWe identified 4 patients with homozygous/compound heterozygous variants and 3 heterozygote carriers (pathogenic PINK1/DJ1 variants were not found). Expansion of one of the pedigrees showed a novel variant in exon 9, in a symptomatic patient. We identified 6.89% PARKIN variant carriers associated with EOPD.ConclusionThese findings suggest that PINK1 and DJ1 are rarely associated with Irish YOPD, while PARKIN variant frequency is similar to that reported worldwide.© 2021. Royal Academy of Medicine in Ireland.

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