Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease

Mov Disord. 2001 Jan;16(1):111-3. doi: 10.1002/1531-8257(200101)16:1<111::aid-mds1023>3.0.co;2-6.

Abstract

Mutation of the parkin gene is a cause of familial Parkinson's disease of the autosomal recessive form; however, its significance in all Parkinson's disease cases is unclear. Deletions in the parkin gene were found in only 2.2% of 184 Japanese patients with Parkinson's disease. However, deletions were present in 25.0% and 40.0% of the patients with juvenile-onset (< 40 y) and with familiality, respectively. On the other hand, deletions were not found in any adult-onset cases (> 40 y). Half of the patients with parkin gene-related Parkinson's disease lacked both heredity and consanguinity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Catchment Area, Health
  • Cohort Studies
  • Exons
  • Female
  • Gene Deletion*
  • Homozygote*
  • Humans
  • Japan / epidemiology
  • Ligases*
  • Male
  • Parkinsonian Disorders / epidemiology*
  • Parkinsonian Disorders / genetics*
  • Prevalence
  • Proteins / genetics*
  • Ubiquitin-Protein Ligases*

Substances

  • Proteins
  • Ubiquitin-Protein Ligases
  • parkin protein
  • Ligases