title: Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases.
abstract: The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described. EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients.
authors.affiliation: Doheny Eye Institute, University of Southern California, Los Angeles, California, USA. carelli@neuro.unibo.it
authors.forename: V
authors.initials: V
authors.lastname: Carelli
authors.forename: M L
authors.initials: ML
authors.lastname: Valentino
authors.forename: R
authors.initials: R
authors.lastname: Liguori
authors.forename: S
authors.initials: S
authors.lastname: Meletti
authors.forename: R
authors.initials: R
authors.lastname: Vetrugno
authors.forename: F
authors.initials: F
authors.lastname: Provini
authors.forename: G L
authors.initials: GL
authors.lastname: Mancardi
authors.forename: F
authors.initials: F
authors.lastname: Bandini
authors.forename: A
authors.initials: A
authors.lastname: Baruzzi
authors.forename: P
authors.initials: P
authors.lastname: Montagna
mesh_terms: D000328:Adult; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D000975:Antioxidants / Q000627:therapeutic use; D016227:Benzoquinones / Q000627:therapeutic use; D001706:Biopsy; D018450:Disease Progression; D004569:Electroencephalography; D004576:Electromyography; D005074:Evoked Potentials, Visual; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009207:Myoclonus / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D013256:Steroids; D016896:Treatment Outcome; D014451:Ubiquinone / Q000031:analogs & derivatives; D014792:Visual Acuity
chemical_list: D000893:Anti-Inflammatory Agents; D000975:Antioxidants; D016227:Benzoquinones; D013256:Steroids; D014451:Ubiquinone; C036619:idebenone