Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study

Mov Disord. 2007 Mar 15;22(4):559-63. doi: 10.1002/mds.21262.

Abstract

We report a family with 5 affected individuals manifesting either essential tremor (ET), Parkinsonism, or both, consistent with pseudo-dominant inheritance of PARK2. Two homozygotes presented postural and kinetic tremor several years before the onset of Parkinsonism. Postural and kinetic tremor mimicking ET was the only feature in 1 homozygous and 2 heterozygous carriers of the mutation. Striatal dopamine transporter density was reduced in accordance with phenotype and number of mutated alleles. In 3 homozygotes and 1 heterozygote, a 2-year follow-up single photon emission computed tomography suggested no progression of nigrostriatal deficit.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Corpus Striatum / metabolism
  • Corpus Striatum / physiopathology
  • Diagnosis, Differential
  • Essential Tremor / diagnosis*
  • Essential Tremor / genetics*
  • Essential Tremor / physiopathology
  • Genes, Dominant / genetics*
  • Humans
  • Iodine Radioisotopes* / pharmacokinetics
  • Mutation, Missense / genetics
  • Parkinsonian Disorders / diagnosis*
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / physiopathology
  • Pedigree
  • Phenotype
  • Point Mutation / genetics
  • Polymerase Chain Reaction
  • Substantia Nigra / metabolism
  • Substantia Nigra / physiopathology
  • Tomography, Emission-Computed, Single-Photon*
  • Tropanes* / pharmacokinetics
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • Iodine Radioisotopes
  • Tropanes
  • 2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane
  • Ubiquitin-Protein Ligases
  • parkin protein