Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency

Carlo Antozzi, Silvana Franceschetti, Graziella Filippini, Bruno Barbiroli, Mario Savoiardo, Folco Fiacchino, Marco Rimoldi, Raffaele Lodi, Paolo Zaniol, Massimo Zeviani

Research output: Contribution to journalArticlepeer-review

Abstract

We report the clinical, neuroradiological and biochemical features of a patient with epilepsia partialis continua (EPC). MRI studies disclosed multiple cortico-subcortical areas of abnormal signal intensity. The activity of complex I of the mitochondrial respiratory chain was markedly reduced in skeletal muscle. The biochemical defect was reflected in vivo by a failure of brain and skeletal muscle bioenergetics, as shown by exercise and phosphorus magnetic resonance spectroscopy (31P-MRS) studies. Muscle morphology was repeatedly normal, and molecular genetic analysis of mitochondrial DNA was not informative. On the basis of in vivo and in vitro findings, the observed defect of the mitochondrial respiratory chain was considered the underlying biochemical pathogenesis of the disease. The observation of an oxidative defect in the brain and skeletal muscle of a patient with EPC emphasizes the importance of studying mitochondrial energy metabolism in patients with EPC not associated with primary CNS lesions when clinical and morphological findings suggesting a mitochondrial disorder are lacking. 31P-MRS can be a useful method to uncover deficits of CNS mitochondrial function and provide the indication for further biochemical studies.

Original languageEnglish
Pages (from-to)152-161
Number of pages10
JournalJournal of the Neurological Sciences
Volume129
Issue number2
DOIs
Publication statusPublished - 1995

Keywords

  • P-Magnetic resonance spectroscopy
  • Energy metabolism
  • Epilepsia partialis continua
  • Magnetic resonance imaging
  • Mitochondria
  • Respiratory chain

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Ageing
  • Surgery
  • Developmental Neuroscience
  • Neuroscience(all)

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