Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration

Mov Disord. 2006 Mar;21(3):417-8. doi: 10.1002/mds.20774.

Abstract

We report on a patient with late-onset, pantothenate kinase-associated neurodegeneration (PKAN) who revealed two new heterozygous mutations at gene testing and showed asymmetric moderately reduced striatal dopamine transporter binding with single photon emission computed tomography, possibly due to prolonged neuroleptic treatment. These findings expand the genetic and imaging spectrum of this rare disorder.

Publication types

  • Case Reports

MeSH terms

  • Age Factors
  • Brain / metabolism*
  • Brain / pathology*
  • DNA Mutational Analysis
  • Disease Progression
  • Dopamine Plasma Membrane Transport Proteins
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Nerve Degeneration* / diagnosis
  • Nerve Degeneration* / enzymology
  • Nerve Degeneration* / genetics
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Phosphotransferases (Alcohol Group Acceptor) / metabolism*
  • Point Mutation / genetics
  • Radiopharmaceuticals / pharmacokinetics
  • Tomography, Emission-Computed, Single-Photon*
  • Tropanes / pharmacokinetics

Substances

  • Dopamine Plasma Membrane Transport Proteins
  • Radiopharmaceuticals
  • Tropanes
  • N-(3-iodopropen-1-yl)-2-carbomethoxy-3-(4-chlorophenyl)tropane
  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase