A multiple sclerosis-like disorder in patients with OPA1 mutations.
Duncan, Holly J
Guadagno, Joseph V
Annals of Clinical and Translational Neurology
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Yu Wai Man, P., Spyropoulos, A., Duncan, H. J., Guadagno, J. V., & Chinnery, P. (2016). A multiple sclerosis-like disorder in patients with OPA1 mutations.. Annals of Clinical and Translational Neurology, 3 (9), 723-729. https://doi.org/10.1002/acn3.323
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.
PYWM is supported by a Clinician Scientist Fellowship Award (G1002570) from the Medical Research Council (UK), and also receives funding from Fight for Sight (UK), the UK National Institute of Health Research (NIHR) as part of the Rare Diseases Translational Research Collaboration, and the NIHR Biomedical Research Centre based at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology. PFC is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/ Z), and a UK NIHR Senior Investigator. PFC receives additional support from the Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/2), the Wellcome Trust Centre for Mitochondrial Research (096919Z/11/Z), the Medical Research Council (UK) Centre for Translational Muscle Disease (G0601943), the Medical Research Council (UK) Centre for Translational Muscle Disease research (G0601943), and EU FP7 TIRCON.
WELLCOME TRUST (101876/Z/13/Z)
External DOI: https://doi.org/10.1002/acn3.323
This record's URL: https://www.repository.cam.ac.uk/handle/1810/255715
Licence URL: http://creativecommons.org/licenses/by/4.0/