Morphometry and 1H-MR spectroscopy of the brain stem and cerebellum in three patients with fragile X-associated tremor/ataxia syndrome

AJNR Am J Neuroradiol. 2007 Mar;28(3):486-8.

Abstract

Morphometry and spectroscopy were performed in 3 patients with fragile X-associated tremor/ataxia syndrome (FXTAS). The brain stem and cerebellum were atrophic and satisfied criteria for olivopontocerebellar atrophy in 2 patients. However, the vermis was relatively spared and the basis pontis maintained its oval shape. The only spectroscopic abnormality was a decrease of the pontine N-acetylaspartate/creatine ratio in 1 patient. Atrophy and metabolic changes in FXTAS differ to some extent from those of olivopontocerebellar atrophy.

Publication types

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

MeSH terms

  • Aged
  • Ataxia / etiology
  • Ataxia / pathology*
  • Brain Stem / pathology*
  • Cerebellum / pathology*
  • Diagnosis, Differential
  • Fragile X Syndrome / complications
  • Fragile X Syndrome / pathology*
  • Humans
  • Magnetic Resonance Spectroscopy*
  • Male
  • Protons
  • Tremor / etiology
  • Tremor / pathology*

Substances

  • Protons