Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study

Neurology. 2002 Jun 11;58(11):1686-9. doi: 10.1212/wnl.58.11.1686.

Abstract

MRI of the brain and proton MRS ((1)H MRS) of the pons and dentate were obtained in 10 patients with genetically confirmed Unverricht-Lundborg disease (EPM1) and 20 control subjects. Patients with EPM1 showed (p < or = 0.01) loss of bulk of the basis pontis, medulla, and cerebellar hemispheres. Cerebral atrophy was present in six patients. The N-acetylaspartate/creatine and choline/creatine ratios were reduced in the pons but not in the dentate (p < or = 0.005). Brainstem involvement could play a role in pathophysiology of EPM1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aspartic Acid / analogs & derivatives*
  • Aspartic Acid / metabolism
  • Brain Stem / metabolism
  • Brain Stem / pathology*
  • Cerebellum / metabolism
  • Cerebellum / pathology
  • Choline / metabolism
  • Creatine / metabolism
  • Female
  • Humans
  • Magnetic Resonance Imaging*
  • Magnetic Resonance Spectroscopy*
  • Male
  • Medulla Oblongata / metabolism
  • Medulla Oblongata / pathology
  • Pons / metabolism
  • Pons / pathology
  • Protons
  • Unverricht-Lundborg Syndrome / metabolism
  • Unverricht-Lundborg Syndrome / pathology*

Substances

  • Protons
  • Aspartic Acid
  • N-acetylaspartate
  • Creatine
  • Choline