Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study

• Published in: Journal of the neurological sciences 1997-05, Vol.148 (1), p.25-31
• Main Authors: Cortelli, Pietro, Montagna, Pasquale, Pierangeli, Giulia, Lodi, Raffaele, Barboni, Piero, Liguori, Rocco, Carelli, Valerio, Iotti, Stefano, Zaniol, Paolo, Lugaresi, Elio, Barbiroli, Bruno
• Format: Article
• Language: English
• Subjects: 31-Phosphorus magnetic resonance spectroscopy ( 31P-MRS); Adult; AIDS/HIV; Benzoquinones - administration & dosage; Biological and medical sciences; Brain - metabolism; Brain - physiopathology; Energy Metabolism - physiology; Follow-Up Studies; Humans; Hydrogen-Ion Concentration; Idebenone; Leber's hereditary optic neuropathy; Magnetic Resonance Spectroscopy; Male; Medical sciences; Mitochondria, Muscle - drug effects; Mitochondrion; Muscle, Skeletal - metabolism; Muscle, Skeletal - physiopathology; Neurologic Examination; Neuropharmacology; Optic Atrophies, Hereditary - drug therapy; Optic Atrophies, Hereditary - metabolism; Paraparesis; Paraparesis, Tropical Spastic - drug therapy; Paraparesis, Tropical Spastic - metabolism; Pharmacology. Drug treatments; Phosphorus Isotopes; Psychoanaleptics: cns stimulant, antidepressant agent, nootropic agent, mood stabilizer..., (alzheimer disease); Psychology. Psychoanalysis. Psychiatry; Psychopharmacology; Ubiquinone - analogs & derivatives
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/S0022-510X(96)00311-5

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.