Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency.

TitleEpilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency.
Publication TypeJournal Article
Year of Publication1995
AuthorsAntozzi, C, Franceschetti, S, Filippini, G, Barbiroli, B, Savoiardo, M, Fiacchino, F, Rimoldi, M, Lodi, R, Zaniol, P, Zeviani, M
JournalJ Neurol Sci
Volume129
Issue2
Pagination152-61
Date Published1995 Apr
ISSN0022-510X
KeywordsAdult, Brain, DNA, Mitochondrial, Electroencephalography, Electron Transport, Electron Transport Complex I, Energy Metabolism, Epilepsia Partialis Continua, Evoked Potentials, Humans, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Mitochondria, Muscle, Skeletal, NADH, NADPH Oxidoreductases
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.

DOI10.1016/0022-510x(94)00267-r
Alternate JournalJ. Neurol. Sci.
Citation Key10.1016/0022-510x(94)00267-r
PubMed ID7608730