Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study

Neurology. 2002 Mar 12;58(5):808-10. doi: 10.1212/wnl.58.5.808.

Abstract

The authors describe a 37-year-old woman with early-onset hemiparkinsonism (HP) and ipsilateral body hemiatrophy (HA). Genetic analysis revealed a missense mutation (Arg275Trp) and a duplication of exon 7 of parkin. The complementary metabolic and receptor pattern of PET ligands corresponded to that typically found in idiopathic PD, although tracer binding asymmetry was lacking. Parkin mutations should be considered in HPHA, particularly when there is a younger age at onset and dystonia is an early sign.

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Atrophy
  • Brain / diagnostic imaging
  • Exons
  • Facial Hemiatrophy
  • Female
  • Gene Dosage
  • Hand / pathology
  • Humans
  • Ligases / genetics*
  • Mutation
  • Parkinsonian Disorders / diagnostic imaging
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / pathology
  • Syndrome
  • Tomography, Emission-Computed
  • Ubiquitin-Protein Ligases*

Substances

  • Ubiquitin-Protein Ligases
  • parkin protein
  • Ligases