Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

Ann Neurol. 2002 May;51(5):621-5. doi: 10.1002/ana.10179.


Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample.

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Exons / genetics
  • Female
  • Humans
  • Ligases / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Parkinsonian Disorders / genetics*
  • Residence Characteristics / statistics & numerical data
  • Ubiquitin-Protein Ligases*


  • Ubiquitin-Protein Ligases
  • parkin protein
  • Ligases