A multiple sclerosis-like disorder in patients with OPA1 mutations
| Autor: | Yu-Wai-Man, Patrick, Spyropoulos, Achillefs, Duncan, Holly J, Guadagno, Joseph V, Chinnery, Patrick F |
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| Přispěvatelé: | Yu Wai Man, Patrick [0000-0001-7847-9320], Chinnery, Patrick [0000-0002-7065-6617], Apollo - University of Cambridge Repository |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Multiple Sclerosis
Biomedical Neurosciences Neurodegenerative Autoimmune Disease eye diseases Brain Disorders Clinical Medicine and Science Clinical Research Neurological 2.1 Biological and endogenous factors 1109 Neurosciences health care economics and organizations Eye Disease And Disorders Of Vision |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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