Clinical implications of gene discovery in Parkinson's disease and parkinsonism

Christian Wider, Tatiana Foroud, Zbigniew K Wszolek

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Over the past decade, major progress has been achieved in the identification of genes associated with Parkinson's disease (PD) and parkinsonism. Five genes have now been shown conclusively to play a role in PD susceptibility. Mutations in three of these genes, PRKN, PINK1, and DJ1, are important in early onset, recessively inherited PD, while mutations in LRRK2 and SNCA result in autosomal-dominant PD. LRRK2 has emerged as the most prevalent genetic cause of PD and has been implicated in both familial and sporadic forms of disease. In addition, autosomal-dominant dementia and Parkinsonism has been shown to be caused by mutations in the MAPT and PGRN genes. Molecular tests are now commercially available for several of these genes; however, in some of them, positive results need to be interpreted with caution until penetrance is better understood. In addition, clinical treatment of PD remains largely unaltered by the results of genetic testing.

Original languageEnglish (US)
JournalMovement Disorders
Volume25
Issue numberSUPPL. 1
DOIs
StatePublished - 2010

Fingerprint

Genetic Association Studies
Parkinsonian Disorders
Parkinson Disease
Genes
Mutation
Penetrance
Disease Susceptibility
Genetic Testing
Dementia

Keywords

  • Genetic counseling
  • Genetics
  • Parkinson's disease
  • Parkinsonism

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Cite this

Clinical implications of gene discovery in Parkinson's disease and parkinsonism. / Wider, Christian; Foroud, Tatiana; Wszolek, Zbigniew K.

In: Movement Disorders, Vol. 25, No. SUPPL. 1, 2010.

Research output: Contribution to journalArticle

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