Decreased cerebellar total creatine in episodic ataxia type 2: a 1H MRS study

Neurology. 2005 Feb 8;64(3):542-4. doi: 10.1212/01.WNL.0000150589.26350.3D.

Abstract

Episodic ataxia type 2 (EA2) affects mainly the cerebellum via mutations in the CACNA1A gene. The authors used proton MR spectroscopy to examine cerebellar and thalamic metabolism of nine mostly nonataxic EA2 family members (all with proven CACNA1A mutation) and nine healthy control subjects. Cerebellar total creatine was lower in the patient group (p = 0.005) than in control subjects, possibly reflecting an early sign of calcium channel dysfunction in EA2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / analysis
  • Calcium Channels / deficiency
  • Calcium Channels / genetics
  • Cerebellum / chemistry*
  • Child
  • Choline / analysis
  • Creatine / analysis*
  • Dysarthria / genetics
  • Female
  • Humans
  • Lactates / analysis
  • Magnetic Resonance Spectroscopy*
  • Male
  • Nystagmus, Pathologic / genetics
  • RNA Splice Sites / genetics
  • Spinocerebellar Ataxias / classification
  • Spinocerebellar Ataxias / metabolism*

Substances

  • CACNA1A protein, human
  • Calcium Channels
  • Lactates
  • RNA Splice Sites
  • Aspartic Acid
  • N-acetylaspartate
  • Creatine
  • Choline