Proton MR spectroscopy in Pelizaeus-Merzbacher disease

AJNR Am J Neuroradiol. 1997 Mar;18(3):533-5.

Abstract

Proton MR spectroscopic findings in two patients with genetically defined Pelizaeus-Merzbacher disease revealed ratios of N-acetylaspartate/creatine and choline-containing compounds/creatine that were not significantly different from those found in a population of healthy subjects. These findings suggest that proton MR spectroscopy can aid in the diagnosis of Pelizaeus-Merzbacher disease.

MeSH terms

  • Adolescent
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / metabolism
  • Child
  • Child, Preschool
  • Choline / metabolism
  • Creatine / metabolism
  • Diffuse Cerebral Sclerosis of Schilder / diagnosis*
  • Diffuse Cerebral Sclerosis of Schilder / genetics
  • Diffuse Cerebral Sclerosis of Schilder / physiopathology
  • Energy Metabolism / physiology*
  • Exons
  • Humans
  • Magnetic Resonance Spectroscopy*
  • Male
  • Point Mutation / genetics
  • Reference Values

Substances

  • Aspartic Acid
  • N-acetylaspartate
  • Creatine
  • Choline