title: [Mitochondrial encephalopathies with late disclosure and predominant involvement of central nervous system].
abstract: We report three cases of mitochondrial encephalomyopathy affecting predominantly the central nervous system; two patients had the MELAS syndrome and one had "ophthalmoplegia plus". Histoenzymatic analysis of muscle biopsy and biochemical studies of muscle mitochondria demonstrated myopathy associated with partial deficiency of complex I of the electron transfer chain in three cases, complex IV in two cases and complex III in one case. Molecular analysis of mtDNA in the first case did not revealed any abnormality. Coenzyme Q10 therapy improved exercise tolerance but not the central nervous signs.
authors.affiliation: Service de Neurologie, H.I.A. Sainte-Anne, Toulon.
authors.forename: A
authors.initials: A
authors.lastname: Drouet
authors.forename: J F
authors.initials: JF
authors.lastname: Pellissier
authors.forename: C
authors.initials: C
authors.lastname: Desnuelle
authors.forename: J
authors.initials: J
authors.lastname: Valance
mesh_terms: D000328:Adult; D000368:Aged; D002493:Central Nervous System Diseases / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008931:Mitochondria, Muscle / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000188:drug therapy; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000378:metabolism; D014057:Tomography, X-Ray Computed; D014451:Ubiquinone / Q000627:therapeutic use
chemical_list: D014451:Ubiquinone; D016660:NAD(P)H Dehydrogenase (Quinone)
vernacular_title: Encéphalopathies mitochondriales à révélation tardive avec atteinte prédominante du système nerveux central.