Author:
Dulski Jarosław,Uitti Ryan J.,Ross Owen A.,Wszolek Zbigniew K.
Abstract
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.
Subject
Cognitive Neuroscience,Aging
Reference101 articles.
1. Genome-wide association study meta-analysis for Parkinson disease motor subtypes.;Alfradique-Dunham;Neurol. Genet.,2021
2. Correlations between methionine cycle metabolism, COMT genotype, and polyneuropathy in L-Dopa Treated Parkinson’s disease: A preliminary cross-sectional study.;Andréasson;J. Parkinsons Dis.,2017
3. Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson’s disease.;Appel-Cresswell;Mov. Disord.,2013
4. Parkinson disease.;Balestrino;Eur. J. Neurol.,2020
5. The association of functional catechol-O-methyltransferase haplotypes with risk of Parkinson’s disease, levodopa treatment response, and complications.;Bialecka;Pharmacogenet. Genomics,2008
Cited by
27 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献