Genetics of Parkinson disease

Nathan Pankratz, Tatiana Foroud

Research output: Contribution to journalReview articlepeer-review

87 Scopus citations


During the past decade five genes have been identified that are important in autosomal dominant and autosomal recessive forms of Parkinson disease. The identification of these genes has increased our understanding of the likely pathogenic mechanisms resulting in disease. However, mutations in these genes likely contribute to disease in fewer than 5% of all cases of Parkinson disease. Thus, researchers have continued to search for genes that may influence disease susceptibility. Molecular diagnostic testing is currently available for four of the genes mutated in Parkinson disease. Evidence for reduced penetrance, possible effects of haploinsufficiency, and the identification of nondisease causing polymorphisms within several of these genes has made genetic counseling challenging. Current recommendations are to limit molecular testing only to those individuals who are symptomatic. Furthermore, because treatment is unaltered by the presence or absence of mutations in these genes, restraint is recommended when considering the value of screening for mutations in a clinical setting.

Original languageEnglish (US)
Pages (from-to)801-811
Number of pages11
JournalGenetics in Medicine
Issue number12
StatePublished - Dec 2007

Bibliographical note

Funding Information:
Supported by National Institutes of Health Grant R01 NS37167.


  • Causative mutation
  • Disease susceptibility
  • Genetics
  • Parkinson disease


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