title: Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery.
abstract: Assessment for epilepsy surgery may require invasive measures such as implantation of intracranial electrodes or the Wada test. These investigations are commonly well tolerated. However, complications, including visual disturbances of various etiologies, have been reported. Here we describe two patients with pharmacoresistant temporal lobe epilepsy (TLE) who displayed loss of vision in the context of presurgical assessment and in whom mutations associated with Leber's hereditary optic neuropathy (LHON) were detected. Genetic analysis revealed in one patient the frequent mitochondrial G11778A LHON mutation in ND4. In the second patient, the mitochondrial C4640A mutation in ND2 was detected. This rare LHON mutation enhanced the sensitivity of the patient's muscle and brain tissue to amobarbital, a known blocker of the mitochondrial respiratory chain. Mitochondrial dysfunction has been reported in epilepsy. Thus, the presence of LHON mutations can be a rare cause of visual disturbances in patients with epilepsy and may have predisposed to development of epilepsy.
authors.affiliation: Department of Neuropathology, University of Bonn, Bonn, Germany.
authors.forename: Pitt
authors.initials: P
authors.lastname: Niehusmann
authors.forename: Rainer
authors.initials: R
authors.lastname: Surges
authors.forename: Randi D
authors.initials: RD
authors.lastname: von Wrede
authors.forename: Christian E
authors.initials: CE
authors.lastname: Elger
authors.forename: Jörg
authors.initials: J
authors.lastname: Wellmer
authors.forename: Jens
authors.initials: J
authors.lastname: Reimann
authors.forename: Horst
authors.initials: H
authors.lastname: Urbach
authors.forename: Stefan
authors.initials: S
authors.lastname: Vielhaber
authors.forename: Christian G
authors.initials: CG
authors.lastname: Bien
authors.forename: Wolfram S
authors.initials: WS
authors.lastname: Kunz
mesh_terms: D000328:Adult; D001766:Blindness / Q000209:etiology*; D004272:DNA, Mitochondrial / Q000235:genetics; D004827:Epilepsy / Q000150:complications / Q000235:genetics / Q000503:physiopathology* / Q000601:surgery; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000502:physiology*; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications / Q000235:genetics / Q000503:physiopathology*
chemical_list: D004272:DNA, Mitochondrial