@article{e752161bbabd41698fb430deb6fe5a79,
title = "Genetic architecture of Parkinson{\textquoteright}s disease subtypes – Review of the literature",
abstract = "The heterogeneity of Parkinson{\textquoteright}s disease (PD) has been recognized since its description by James Parkinson over 200 years ago. The complexity of motor and non-motor PD manifestations has led to many attempts of PD subtyping with different prognostic outcomes; however, the pathophysiological foundations of PD heterogeneity remain elusive. Genetic contributions to PD may be informative in understanding the underpinnings of PD subtypes. As such, recognizing genotype-phenotype associations may be crucial for successful gene therapy. We review the state of knowledge on the genetic architecture underlying PD subtypes, discussing the monogenic forms, as well as oligo- and polygenic risk factors associated with various PD subtypes. Based on our review, we argue for the unification of PD subtyping classifications, the dichotomy of studies on genetic factors and genetic modifiers of PD, and replication of results from previous studies.",
keywords = "PD, genome-wide association study (GWAS), genotype, heterogeneity, monogenic, oligogenic and polygenic inheritance, phenotype",
author = "Jaros{\l}aw Dulski and Uitti, {Ryan J.} and Ross, {Owen A.} and Wszolek, {Zbigniew K.}",
note = "Funding Information: The Haworth Family Professorship in Neurodegenerative Diseases fund sponsored the fellowship of JD at Mayo Clinic, RU and ZW have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson{\textquoteright}s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G > A (G2019S), Linked to Autosomal Dominant Parkinsonism in Families from Several European Populations”. Those technologies have been licensed to a commercial entity, and to date, RU and ZW have received royalties <$1.500 through Mayo Clinic in accordance with its royalty sharing policies. OR Grants: NIH/NINDS U54-NS100693, UG3-NS104095, U54- NS110435, DOD (W81XWH-17-1-0249), The Michael J. Fox Foundation and American Parkinson Disease Association Center for Advanced Research. ZW Grants: NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, Mayo Clinic in Florida Focused Research Team Program, the gifts from The Sol Goldman Charitable Trust, and the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson{\textquoteright}s Research Foundation. He serves as PI or Co-PI on Biohaven Pharmaceuticals, Inc. (BHV4157-206 and BHV3241-301), Neuraly, Inc. (NLY01-PD-1), and Vigil Neuroscience, Inc. (VGL101-01.001) grants. Funding Information: The Haworth Family Professorship in Neurodegenerative Diseases fund sponsored the fellowship of JD at Mayo Clinic, RU and ZW have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson{\textquoteright}s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G > A (G2019S), Linked to Autosomal Dominant Parkinsonism in Families from Several European Populations”. Those technologies have been licensed to a commercial entity, and to date, RU and ZW have received royalties <$1.500 through Mayo Clinic in accordance with its royalty sharing policies. OR Grants: NIH/NINDS U54-NS100693, UG3-NS104095, U54- NS110435, DOD (W81XWH-17-1-0249), The Michael J. Fox Foundation and American Parkinson Disease Association Center for Advanced Research. ZW Grants: NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, Mayo Clinic in Florida Focused Research Team Program, the gifts from The Sol Goldman Charitable Trust, and the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson{\textquoteright}s Research Foundation. He serves as PI or Co-PI on Biohaven Pharmaceuticals, Inc. (BHV4157-206 and BHV3241-301), Neuraly, Inc. (NLY01-PD-1), and Vigil Neuroscience, Inc. (VGL101-01.001) grants. Publisher Copyright: Copyright {\textcopyright} 2022 Dulski, Uitti, Ross and Wszolek.",
year = "2022",
month = oct,
day = "20",
doi = "10.3389/fnagi.2022.1023574",
language = "English (US)",
volume = "14",
journal = "Frontiers in Aging Neuroscience",
issn = "1663-4365",
publisher = "Frontiers Research Foundation",
}