Genetics of Parkinson's disease

Ann Med. 2005;37(2):86-96. doi: 10.1080/07853890510007269.


Twenty years ago Parkinson's disease (PD) was thought of as an environmentally determined neurodegenerative disease. It is now known that there are two autosomal dominant disease genes, alpha-synuclein and dardarin, and three genes responsible for autosomal recessive PD, parkin, DJ-1 and PINK-1. Although these gene mutations are not common, their identification has led to a new understanding of the pathogenesis of PD, and to a development in the understanding of the clinical and pathological definitions of PD and Lewy body disease. Ultimately, these advances may lead to the development of new disease-modifying therapies, but more immediately these discoveries have led to a more coherent view of the spectrum of PD and Lewy body diseases and to accurate genetic diagnosis and counselling for some families.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Lewy Body Disease / genetics*
  • Lewy Body Disease / pathology
  • Mutation*
  • Nerve Tissue Proteins / genetics
  • Oncogene Proteins / genetics
  • Parkinson Disease / genetics*
  • Parkinson Disease / pathology
  • Protein Deglycase DJ-1
  • Protein Kinases / genetics
  • Protein Serine-Threonine Kinases / genetics
  • Synucleins
  • Ubiquitin-Protein Ligases / genetics
  • alpha-Synuclein


  • Intracellular Signaling Peptides and Proteins
  • Nerve Tissue Proteins
  • Oncogene Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein
  • Ubiquitin-Protein Ligases
  • parkin protein
  • Protein Kinases
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • PTEN-induced putative kinase
  • Protein Serine-Threonine Kinases
  • PARK7 protein, human
  • Protein Deglycase DJ-1