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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.
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
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.
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