Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood

Ann Neurol. 1993 Jun;33(6):604-7. doi: 10.1002/ana.410330608.


Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytosolic phosphorylation potential. Two of the 4 patients had abnormally low resonance intensities from phosphocreatine and an abnormally high calculated cytosolic free adenosine diphosphate concentration. These abnormalities are indicative of mitochondrial dysfunction. The combination of a central nervous system disorder and evidence of mitochondrial dysfunction in muscle suggests that alternating hemiplegia of childhood may represent a previously unrecognized phenotype of mitochondrial disease.

MeSH terms

  • Adenosine Diphosphate / metabolism
  • Adenosine Triphosphate / metabolism
  • Child
  • Cytosol / metabolism
  • Hemiplegia / metabolism*
  • Hemiplegia / physiopathology*
  • Humans
  • Magnetic Resonance Spectroscopy / methods
  • Mitochondria, Muscle / metabolism*
  • Muscles / metabolism*
  • Phosphates / metabolism
  • Phosphocreatine / metabolism


  • Phosphates
  • Phosphocreatine
  • Adenosine Diphosphate
  • Adenosine Triphosphate