[18 F]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations

Neurology. 2000 Sep 26;55(6):877-9. doi: 10.1212/wnl.55.6.877.

Abstract

+Parkin gene mutations cause a form of early-onset autosomal recessive PD with neuronal loss in the substantia nigra and no Lewy bodies. The authors present a PET [18F]-dopa study of one familial and two sporadic cases with juvenile-onset PD resulting from parkin gene mutations. They found a profound decrease of [18F]-dopa uptake, representing 28% of putamen and 44% of caudate nucleus control subject values. PD caused by parkin gene mutations is distinct from idiopathic PD on molecular grounds but has similar clinical and PET findings.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Brain / diagnostic imaging
  • Brain / physiopathology
  • Female
  • Humans
  • Ligases*
  • Male
  • Middle Aged
  • Mutation / genetics
  • Parkinsonian Disorders / diagnostic imaging*
  • Parkinsonian Disorders / genetics
  • Parkinsonian Disorders / physiopathology
  • Proteins / genetics*
  • Tomography, Emission-Computed
  • Ubiquitin-Protein Ligases*

Substances

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