@article{04e9e68e21434c6d876aadb7e69224b0,
title = "PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson{\textquoteright}s disease in Ireland",
abstract = "Background: Variants in PARKIN, PINK1, and DJ1 are associated with early-onset Parkinson{\textquoteright} 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.",
keywords = "DJ1, EOPD, Ireland, PINK1, Parkin, Parkinson{\textquoteright}s disease",
author = "Olszewska, {Diana A.} and Allan McCarthy and Soto-Beasley, {Alexandra I.} and Walton, {Ronald L.} and Ross, {Owen A.} and Tim Lynch",
note = "Funding Information: The authors would like to thank the NHLBI GO Exome Sequencing Project and its ongoing studies which produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the WHI Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926), and the Heart GO Sequencing Project (HL-103010). Mayo Clinic is an American Parkinson Disease Association (APDA) Mayo Clinic Information and Referral Center, an APDA Center for Advanced Research and the Mayo Clinic Lewy Body Dementia Association (LBDA) Research Center of Excellence. Funding Information: OAR is supported by the National Institutes of Health (NIH; R01 NS78086; U54 NS100693; U54 NS110435), the US Department of Defense (W81XWH-17–1-0249), The Little Family Foundation, the Mayo Clinic Center for Individualized Medicine, and the Michael J. Fox Foundation. TL is supported by Health Research Board and Michael J. Fox Foundation. All the other authors have nothing to declare. Publisher Copyright: {\textcopyright} 2021, Royal Academy of Medicine in Ireland.",
year = "2022",
month = apr,
doi = "10.1007/s11845-021-02563-w",
language = "English (US)",
volume = "191",
pages = "901--907",
journal = "The Dublin Journal of Medical and Chemical Science",
issn = "0332-1029",
publisher = "Springer London",
number = "2",
}