Genetic architecture of Parkinson’s disease subtypes – Review of the literature
The heterogeneity of Parkinson’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 foundati...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-10-01
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| Series: | Frontiers in Aging Neuroscience |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fnagi.2022.1023574/full |
| _version_ | 1828139634097389568 |
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| author | Jarosław Dulski Jarosław Dulski Jarosław Dulski Ryan J. Uitti Owen A. Ross Zbigniew K. Wszolek |
| author_facet | Jarosław Dulski Jarosław Dulski Jarosław Dulski Ryan J. Uitti Owen A. Ross Zbigniew K. Wszolek |
| author_sort | Jarosław Dulski |
| collection | DOAJ |
| description | The heterogeneity of Parkinson’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. |
| first_indexed | 2024-04-11T18:55:22Z |
| format | Article |
| id | doaj.art-87c8436c9a154ef4a4b6f63693d79163 |
| institution | Directory Open Access Journal |
| issn | 1663-4365 |
| language | English |
| last_indexed | 2024-04-11T18:55:22Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Aging Neuroscience |
| spelling | doaj.art-87c8436c9a154ef4a4b6f63693d791632022-12-22T04:08:13ZengFrontiers Media S.A.Frontiers in Aging Neuroscience1663-43652022-10-011410.3389/fnagi.2022.10235741023574Genetic architecture of Parkinson’s disease subtypes – Review of the literatureJarosław Dulski0Jarosław Dulski1Jarosław Dulski2Ryan J. Uitti3Owen A. Ross4Zbigniew K. Wszolek5Department of Neurology, Mayo Clinic, Jacksonville, FL, United StatesDivision of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdańsk, Gdańsk, PolandDepartment of Neurology, St. Adalbert Hospital, Copernicus PL Ltd., Gdańsk, PolandDepartment of Neurology, Mayo Clinic, Jacksonville, FL, United StatesDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, United StatesDepartment of Neurology, Mayo Clinic, Jacksonville, FL, United StatesThe heterogeneity of Parkinson’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.https://www.frontiersin.org/articles/10.3389/fnagi.2022.1023574/fullgenotypephenotypemonogenicoligogenic and polygenic inheritanceheterogeneitygenome-wide association study (GWAS) |
| spellingShingle | Jarosław Dulski Jarosław Dulski Jarosław Dulski Ryan J. Uitti Owen A. Ross Zbigniew K. Wszolek Genetic architecture of Parkinson’s disease subtypes – Review of the literature Frontiers in Aging Neuroscience genotype phenotype monogenic oligogenic and polygenic inheritance heterogeneity genome-wide association study (GWAS) |
| title | Genetic architecture of Parkinson’s disease subtypes – Review of the literature |
| title_full | Genetic architecture of Parkinson’s disease subtypes – Review of the literature |
| title_fullStr | Genetic architecture of Parkinson’s disease subtypes – Review of the literature |
| title_full_unstemmed | Genetic architecture of Parkinson’s disease subtypes – Review of the literature |
| title_short | Genetic architecture of Parkinson’s disease subtypes – Review of the literature |
| title_sort | genetic architecture of parkinson s disease subtypes review of the literature |
| topic | genotype phenotype monogenic oligogenic and polygenic inheritance heterogeneity genome-wide association study (GWAS) |
| url | https://www.frontiersin.org/articles/10.3389/fnagi.2022.1023574/full |
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