PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism

Lancet Neurol. 2004 Nov;3(11):652-62. doi: 10.1016/S1474-4422(04)00905-6.

Abstract

We provide a pragmatic guide for clinicians, and detail the recent developments in the genetics of Parkinson's disease that have shaped our current understanding and management of this disease and other parkinsonian disorders. These developments have been rapid, and in total over 20 genes have been identified, three of which were discovered in the past year. Although there are undoubtedly more genes to be found, the major challenge for the future is to determine how they function and whether they interact. These genes help us to understand the heterogeneity of parkinsonism, and also inform on the molecular and clinical features of individual parkinsonisms. However, their discovery also requires us to raise issues about genetic testing and genetic counselling.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Nerve Tissue Proteins / genetics*
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / pathology
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Protein Kinases / genetics*
  • Synucleins

Substances

  • Nerve Tissue Proteins
  • Synucleins
  • Protein Kinases
  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase
  • PTEN-induced putative kinase