Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases.
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.
Carelli
V
V
Doheny Eye Institute, University of Southern California, Los Angeles, California, USA. carelli@neuro.unibo.it
Valentino
M L
ML
Liguori
R
R
Meletti
S
S
Vetrugno
R
R
Provini
F
F
Mancardi
G L
GL
Bandini
F
F
Baruzzi
A
A
Montagna
P
P
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
D000893:Anti-Inflammatory Agents; D000975:Antioxidants; D016227:Benzoquinones; D013256:Steroids; D014451:Ubiquinone; C036619:idebenone