title: A multiple sclerosis-like disorder in patients with OPA1 mutations.
abstract: We describe three unrelated patients presenting with a spinal cord syndrome and neuroimaging features consistent with multiple sclerosis (MS). All harbored a pathogenic OPA1 mutation. Although the neurological phenotype resembled neuromyelitis optica (NMO), anti-aquaporin 4 antibodies were not detected and the disorder followed a slow progressive course. The coincidental occurrence of OPA1 mutations and an MS-like disorder is likely to have modulated the phenotypic manifestations of both disorders, but unlike the previously reported association of Leber hereditary optic neuropathy and MS (Harding disease), the optic neuropathy in patients with OPA1 mutations and an MS-like disorder can be mild with a good visual prognosis.
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine Newcastle University Newcastle upon Tyne NE1 3BZ United Kingdom; Newcastle Eye Centre Royal Victoria Infirmary Newcastle upon Tyne NE1 3BZ United Kingdom; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology London EC1V 2PD United Kingdom.
authors.forename: Patrick
authors.initials: P
authors.lastname: Yu-Wai-Man
authors.affiliation: Department of Neurology Royal Victoria Infirmary Newcastle upon Tyne NE1 4LP United Kingdom.
authors.forename: Achillefs
authors.initials: A
authors.lastname: Spyropoulos
authors.affiliation: Newcastle Eye Centre Royal Victoria Infirmary Newcastle upon Tyne NE1 3BZ United Kingdom.
authors.forename: Holly J
authors.initials: HJ
authors.lastname: Duncan
authors.affiliation: Department of Neurology Royal Victoria Infirmary Newcastle upon Tyne NE1 4LP United Kingdom.
authors.forename: Joseph V
authors.initials: JV
authors.lastname: Guadagno
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine Newcastle University Newcastle upon Tyne NE1 3BZ United Kingdom; MRC-Mitochondrial Biology Unit Cambridge Biomedical Campus Cambridge CB2 0XY United Kingdom; Department of Clinical Neurosciences Cambridge Biomedical Campus University of Cambridge Cambridge CB2 0QQ United Kingdom.
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery