Functional involvement of central nervous system in mitochondrial disorders

Electroencephalogr Clin Neurophysiol. 1997 Jun;105(3):171-80. doi: 10.1016/s0924-980x(97)96671-6.

Abstract

Thirty-nine patients with mitochondrial diseases were studied with somatosensory and motor evoked potentials. Sixteen patients (41%) had clinical and 12 (31%) had neuroradiological evidence of central nervous system involvement. The overall incidence of electrophysiological abnormalities was 64%. Abnormal evoked potentials were also found in a significant percentage (33%) of patients with pure myopathic forms of mitochondrial diseases and in an asymptomatic carrier of MERRF mutation. Of the individual tests, somatosensory evoked potentials were abnormal in 49% of the patients and motor evoked potentials were abnormal in 46% of the patients. The outcome is that electrophysiological evidence of central nervous system involvement is present in a high percentage of patients with mitochondrial disorders, and that the threshold for central nervous system electrophysiological abnormalities is well below that for clinical and/or radiological manifestations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Central Nervous System / physiopathology*
  • Child
  • Electroencephalography
  • Evoked Potentials, Motor / physiology*
  • Evoked Potentials, Somatosensory / physiology*
  • Female
  • Humans
  • Magnetics
  • Male
  • Middle Aged
  • Mitochondrial Myopathies / genetics
  • Mitochondrial Myopathies / metabolism
  • Mitochondrial Myopathies / physiopathology*
  • Mutation
  • Reaction Time / physiology