Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood.
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.
Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada.
D L
DL
Arnold
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K
Silver
F
F
Andermann
D000244:Adenosine Diphosphate / Q000378:metabolism; D000255:Adenosine Triphosphate / Q000378:metabolism; D002648:Child; D003600:Cytosol / Q000378:metabolism; D006429:Hemiplegia / Q000378:metabolism* / Q000503:physiopathology*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008931:Mitochondria, Muscle / Q000378:metabolism*; D009132:Muscles / Q000378:metabolism*; D010710:Phosphates / Q000378:metabolism; D010725:Phosphocreatine / Q000378:metabolism
D010710:Phosphates; D010725:Phosphocreatine; D000244:Adenosine Diphosphate; D000255:Adenosine Triphosphate