Cited by 530Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and SignalingNeurological disorders and treatments

The genetics of Parkinson disease

Deng, Hao, Wang, Peng, Jankovic, Joseph·2018·Ageing Research Reviews

Abstract

About 15% of patients with Parkinson disease (PD) have family history and 5-10% have a monogenic form of the disease with Mendelian inheritance. To date, at least 23 loci and 19 disease-causing genes for parkinsonism have been found, but many more genetic risk loci and variants for sporadic PD phenotype have been identified in various association studies. Investigating the mutated protein products has uncovered potential pathogenic pathways that provide insights into mechanisms of neurodegeneration in familial and sporadic PD. To commemorate the 200th anniversary of Parkinson's publication of An Essay on the Shaking Palsy, we provide a comprehensive and critical overview of the current clinical, neuropathological, and genetic understanding of genetic forms of PD. We also discuss advances in screening for genetic PD-related risk factors and how they impact genetic counseling and contribute to the development of potential disease-modifying therapies.

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Crossref · 10.1016/j.arr.2017.12.007

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  • Parkinson's disease is the second most common neurodegenerative disease, affecting 1.2% of individuals over age 65; most cases are sporadic and 5-10% are inherited.

    “Parkinson’s disease (PD) is the second most common neurodegenerative disease, affecting 1.2% of individuals over age 65. Most cases are sporadic and 5–10% are inherited58.”

    From Microglia in neurodegeneration (2018) · cites this paper as [58]

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Authors
Deng, H., Wang, P., & Jankovic, J.
Affiliations
  • Central South University (CN)
  • Baylor College of Medicine (US)
Corresponding author
Deng, Hao
Venue
Ageing Research Reviews
Publisher
Elsevier BV
Published
2018-03
Volume
42
Pages
72-85
ISSN
1568-1637 (ISSN-L)
OpenAlex
W2781194958
Cited by
530
References
177
Citations by year
2026: 22 · 2025: 60 · 2024: 55 · 2023: 68 · 2022: 72 · 2021: 73 · 2020: 83 · 2019: 56 · 2018: 41
FWCI
6.56
Type
journal article
Language
en
Open access
closed
Locations
  • Ageing Research Reviews (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Key Research and Development Program of China (2016YFC1306604)
  • National Natural Science Foundation of China (81670216)
  • Natural Science Foundation of Hunan Province (2015JJ4088, 2016JJ2166, 2017JJ3469)
  • Foster Key Subject of the Third Xiangya Hospital of Central South University (Clinical Laboratory Diagnostics)
  • New Xiangya Talent Project of the Third Xiangya Hospital of Central South University (20150301)
  • Parkinson Foundation and Michael J. Fox Foundation
Topics
  • Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
  • Health Sciences › Medicine › Neurology › Neurological disorders and treatments
Keywords
Parkinson's disease, genetic susceptibility loci, disease-associated genes, Mendelian inheritance, sporadic Parkinson disease, genetic risk variants, neurodegeneration pathogenesis, genetic counseling, disease-modifying therapy, parkinsonism
MeSH terms
Animals, Humans, Mutation, Parkinson Disease, Phenotype, Signal Transduction, Genetic Predisposition to Disease, Heredity, Ubiquitin-Protein Ligases, Ataxia Telangiectasia Mutated Proteins

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