Genetics of Parkinson disease

Nathan Pankratz, Tatiana Foroud

Research output: Contribution to journalArticle

61 Citations (Scopus)

Abstract

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
Pages (from-to)801-811
Number of pages11
JournalGenetics in Medicine
Volume9
Issue number12
DOIs
StatePublished - Dec 2007

Fingerprint

Inborn Genetic Diseases
Parkinson Disease
Genes
Mutation
Molecular Diagnostic Techniques
Haploinsufficiency
Penetrance
Disease Susceptibility
Genetic Counseling
Research Personnel

Keywords

  • Causative mutation
  • Disease susceptibility
  • Genetics
  • Parkinson disease

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Genetics of Parkinson disease. / Pankratz, Nathan; Foroud, Tatiana.

In: Genetics in Medicine, Vol. 9, No. 12, 12.2007, p. 801-811.

Research output: Contribution to journalArticle

Pankratz, Nathan ; Foroud, Tatiana. / Genetics of Parkinson disease. In: Genetics in Medicine. 2007 ; Vol. 9, No. 12. pp. 801-811.
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