Open AccessA multiple sclerosis‐like disorder in patients with OPA1 mutations
Author(s) -
YuWaiMan Patrick,
Spyropoulos Achillefs,
Duncan Holly J.,
Guadagno Joseph V.,
Chinnery Patrick F.
Publication year - 2016
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.323
Subject(s) - neuromyelitis optica , medicine , multiple sclerosis , optic neuropathy , spectrum disorder , phenotype , spinal cord , pathology , mutation , optic nerve , immunology , genetics , psychiatry , ophthalmology , gene , biology
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 OPA 1 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 OPA 1 mutations and an MS ‐like disorder can be mild with a good visual prognosis.