The genetics of Parkinson disease

Ageing Res Rev. 2018 Mar;42:72-85. doi: 10.1016/j.arr.2017.12.007. Epub 2017 Dec 26.


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.

Keywords: Animal model; Genetic; Molecular pathway; Mutation; Parkinson disease.

Publication types

  • Review

MeSH terms

  • Animals
  • Ataxia Telangiectasia Mutated Proteins / genetics
  • Ataxia Telangiectasia Mutated Proteins / metabolism
  • Genetic Predisposition to Disease / genetics*
  • Heredity / physiology
  • Humans
  • Mutation / physiology
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism*
  • Phenotype
  • Signal Transduction / physiology
  • Ubiquitin-Protein Ligases / genetics
  • Ubiquitin-Protein Ligases / metabolism


  • Ubiquitin-Protein Ligases
  • parkin protein
  • Ataxia Telangiectasia Mutated Proteins