Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases

V Carelli; M L Valentino; R Liguori; S Meletti; R Vetrugno; F Provini; G L Mancardi; F Bandini; A Baruzzi; P Montagna

doi:10.1136/jnnp.71.6.813

Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases

J Neurol Neurosurg Psychiatry. 2001 Dec;71(6):813-6. doi: 10.1136/jnnp.71.6.813.

Authors

V Carelli¹, M L Valentino, R Liguori, S Meletti, R Vetrugno, F Provini, G L Mancardi, F Bandini, A Baruzzi, P Montagna

Affiliation

¹ Doheny Eye Institute, University of Southern California, Los Angeles, California, USA. [email protected]

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.

Publication types

Case Reports

MeSH terms

Adult
Anti-Inflammatory Agents / therapeutic use
Antioxidants / therapeutic use
Benzoquinones / therapeutic use
Biopsy
Disease Progression
Electroencephalography
Electromyography
Evoked Potentials, Visual
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Mutation / genetics*
Myoclonus / complications*
Myoclonus / diagnosis
Myoclonus / drug therapy
Myoclonus / genetics*
Optic Atrophy, Hereditary, Leber / complications*
Optic Atrophy, Hereditary, Leber / diagnosis
Optic Atrophy, Hereditary, Leber / drug therapy
Optic Atrophy, Hereditary, Leber / genetics*
Steroids
Treatment Outcome
Ubiquinone / analogs & derivatives
Visual Acuity

Substances

Anti-Inflammatory Agents
Antioxidants
Benzoquinones
Steroids
Ubiquinone
idebenone