A multiple sclerosis‐like disorder in patients with OPA1 mutations Article Swipe
Patrick Yu‐Wai‐Man
,
Achillefs Spyropoulos
,
Holly Duncan
,
Joseph V. Guadagno
,
Patrick F. Chinnery
·
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1002/acn3.323
YOU?
·
· 2016
· Open Access
·
· DOI: 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 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.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/acn3.323
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.323
- OA Status
- gold
- Cited By
- 38
- References
- 25
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2500511985
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2500511985Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/acn3.323Digital Object Identifier
- Title
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A multiple sclerosis‐like disorder in patients with OPA1 mutationsWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2016Year of publication
- Publication date
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2016-07-19Full publication date if available
- Authors
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Patrick Yu‐Wai‐Man, Achillefs Spyropoulos, Holly Duncan, Joseph V. Guadagno, Patrick F. ChinneryList of authors in order
- Landing page
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https://doi.org/10.1002/acn3.323Publisher landing page
- PDF URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.323Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.323Direct OA link when available
- Concepts
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Neuromyelitis optica, Medicine, Multiple sclerosis, Optic neuropathy, Spectrum disorder, Phenotype, Spinal cord, Pathology, Mutation, Optic nerve, Immunology, Genetics, Psychiatry, Ophthalmology, Gene, BiologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
38Total citation count in OpenAlex
- Citations by year (recent)
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2025: 4, 2024: 5, 2023: 7, 2022: 2, 2021: 4Per-year citation counts (last 5 years)
- References (count)
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25Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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