PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson’s disease in Ireland

Diana A. Olszewska, Allan McCarthy, Alexandra I. Soto-Beasley, Ronald L. Walton, Owen A. Ross, Tim Lynch

Research output: Contribution to journalArticlepeer-review


Background: Variants 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. Purpose: We aimed to expand upon our previous EOPD studies and investigate for any genotype–phenotype correlations in Irish PD. Methods: Three 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. Results: We 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. Conclusion: These findings suggest that PINK1 and DJ1 are rarely associated with Irish YOPD, while PARKIN variant frequency is similar to that reported worldwide.

Original languageEnglish (US)
Pages (from-to)901-907
Number of pages7
JournalIrish Journal of Medical Science
Issue number2
StatePublished - Apr 2022


  • DJ1
  • EOPD
  • Ireland
  • PINK1
  • Parkin
  • Parkinson’s disease

ASJC Scopus subject areas

  • General Medicine


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