Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases. Issue 6 (1st December 2001)

• Record Type: Journal Article
• Authors: Carelli, V; Valentino, M L; Liguori, R; Meletti, S; Vetrugno, R; Provini, F; Mancardi, G L; Bandini, F; Baruzzi, A; Montagna, P
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 71:Issue 6(2001)
• Page Start: 813
• Page End: 816
• Publication Date: 2001-12-01
• Subjects: LHON -- myoclonus -- mitochondria; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.71.6.813
• Languages: English
• ISSNs: 0022-3050

Abstract

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.