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A multiple sclerosis-like disorder in patients with OPA1 mutations

Lookup NU author(s): Dr Patrick Yu Wai Man, Dr Holly Duncan, Dr Joseph Guadagno, Professor Patrick Chinnery



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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.

Publication metadata

Author(s): Yu-Wai-Man P, Spyropoulos A, Duncan HJ, Guadagno JV, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Annals of Clinical and Translational Neurology

Year: 2016

Volume: 3

Issue: 9

Pages: 723-729

Print publication date: 01/09/2016

Online publication date: 19/07/2016

Acceptance date: 10/04/2016

Date deposited: 24/11/2016

ISSN (electronic): 2328-9503

Publisher: John Wiley & Sons Ltd.


DOI: 10.1002/acn3.323


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Funder referenceFunder name
G1002570Medical Research Council
101876/Z/13/ZWellcome Trust