title: Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study.
abstract: We used phosphorus magnetic resonance spectroscopy (31P-MRS) to study in vivo brain and muscle bioenergetics in a male patient with Leber's hereditary optic neuropathy (LHON) and mtDNA mutation at 11,778 bp who developed spastic paraparesis with white matter lesions on brain MR imaging. The study was performed before and during treatment with idebenone (135 mg t.i.d.) and after withdrawal. Clinical amelioration and worsening were associated with parallel changes in brain and skeletal muscle bioenergetics following the administration or withdrawal of idebenone. Reversal of paraparesis by idebenone was paralleled by normalization of 31P-MRS, serum lactate and central motor conduction. Extra-ocular neurological dysfunction in LHON may be amenable to treatment by appropriate quinones.
authors.affiliation: Institute of Neurology, University of Bologna, Italy. cortelli@unibo.it
authors.forename: P
authors.initials: P
authors.lastname: Cortelli
authors.forename: P
authors.initials: P
authors.lastname: Montagna
authors.forename: G
authors.initials: G
authors.lastname: Pierangeli
authors.forename: R
authors.initials: R
authors.lastname: Lodi
authors.forename: P
authors.initials: P
authors.lastname: Barboni
authors.forename: R
authors.initials: R
authors.lastname: Liguori
authors.forename: V
authors.initials: V
authors.lastname: Carelli
authors.forename: S
authors.initials: S
authors.lastname: Iotti
authors.forename: P
authors.initials: P
authors.lastname: Zaniol
authors.forename: E
authors.initials: E
authors.lastname: Lugaresi
authors.forename: B
authors.initials: B
authors.lastname: Barbiroli
mesh_terms: D000328:Adult; D016227:Benzoquinones / Q000008:administration & dosage*; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D004734:Energy Metabolism / Q000502:physiology; D005500:Follow-Up Studies; D006801:Humans; D006863:Hydrogen-Ion Concentration; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008931:Mitochondria, Muscle / Q000187:drug effects; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D009460:Neurologic Examination; D015418:Optic Atrophies, Hereditary / Q000188:drug therapy* / Q000378:metabolism; D015493:Paraparesis, Tropical Spastic / Q000188:drug therapy / Q000378:metabolism; D010759:Phosphorus Isotopes; D014451:Ubiquinone / Q000031:analogs & derivatives
chemical_list: D016227:Benzoquinones; D010759:Phosphorus Isotopes; D014451:Ubiquinone; C036619:idebenone