1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency

Mol Genet Metab. 2008 Jan;93(1):85-8. doi: 10.1016/j.ymgme.2007.09.003. Epub 2007 Oct 22.


Cerebellar ataxia is known to occasionally occur in the course of mitochondrial disorders. We report on MR spectroscopy (1H MRS) evidence of elevated brain lactate in the cerebellar area of 11 patients with cerebellar ataxia ascribed to mitochondrial respiratory chain deficiency (RCD). 1H MRS spectroscopy evidence of lactate peak was found in the cerebellum of 9/11 cases, while no lactate was detected in the putamen in 8/11. We suggest using 1H MRS in cerebellar atrophy in the diagnosis of mitochondrial RCD.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cerebellar Ataxia / diagnosis
  • Cerebellum / chemistry*
  • Cerebellum / pathology
  • Child
  • Child, Preschool
  • Humans
  • Infant
  • Infant, Newborn
  • Lactic Acid / analysis*
  • Magnetic Resonance Spectroscopy*
  • Mitochondrial Diseases / metabolism*
  • Mitochondrial Diseases / pathology
  • Protons
  • Retrospective Studies


  • Protons
  • Lactic Acid