Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation

Neurology. 2005 Jan 11;64(1):134-6. doi: 10.1212/01.WNL.0000148725.48740.6D.

Abstract

Parkin disease is usually autosomal recessive; however, two studies have shown that asymptomatic heterozygotes have nigrostriatal dysfunction and even manifest subtle extrapyramidal signs. The authors used 18F-dopa PET to study 13 asymptomatic parkin heterozygotes and found a significant reduction of (18)F-dopa uptake in caudate, putamen, ventral, and dorsal midbrain compared with control subjects. Four had subtle extrapyramidal signs. Parkin heterozygosity is a risk factor for nigrostriatal dysfunction and in some may contribute to late-onset Parkinson disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Brain Mapping / methods
  • Carrier State*
  • Dopamine / metabolism*
  • Female
  • Humans
  • Middle Aged
  • Mutation / genetics*
  • Parkinson Disease / genetics*
  • Positron-Emission Tomography / methods
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • Ubiquitin-Protein Ligases
  • parkin protein
  • Dopamine