SynthesisNeurology2013
Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations.
Synthesis in Neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
46 citing papers in PubMed, 118 citations in OpenAlex.
- Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.Brain : a journal of neurology · 2023Trial
- Associations Between Neuromuscular Fatigue, Anxiety, and Peripheral Biomarkers of Neuronal Injury, Inflammation, and Mitochondrial Dysfunction in Treatment-Naïve Relapsing-Remitting Multiple Sclerosis.Brain and behavior · 2026Article
- Sterile inflammation in LHON: mitochondrial stress, innate immune signaling, and implications for AAV gene therapy.Frontiers in immunology · 2026Review
- Optic nerve MRI findings in Leber's hereditary optic neuropathy.Japanese journal of ophthalmology · 2026Article
- Multiple sclerosis severity variant iniScience · 2025Article
- Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices.Clinical & experimental ophthalmology · 2025Review
- Autosomal Recessive Leber Hereditary Optic Neuropathy Triggered by Superior Mesenteric Artery Syndrome.Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society · 2025Article
- Leber's hereditary optic neuropathy and multiple sclerosis: overlap between mitochondrial disease and neuroinflammation.Frontiers in neurology · 2025Review
- Diagnostic criteria for optic neuritis in the acute and subacute phase: clinical uses and limitations.Journal of neurology · 2024Article
- Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference ProceedingsNeurology(R) neuroimmunology & neuroinflammation · 2024Article
- A Comprehensive Review of Leber Hereditary Optic Neuropathy and Its Association with Multiple Sclerosis-Like Phenotypes Known as Harding's Disease.Eye and brain · 2024Review
- New views on the complex interplay between degeneration and autoimmunity in multiple sclerosis.Frontiers in cellular neuroscience · 2024Article
- Recurrent optic neuropathy: a case of Harding's disease?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report.BMC neurology · 2022Article
- A case of primary optic pathway demyelination caused by oncocytic oligodendrogliopathy of unknown origin.Acta neuropathologica communications · 2022Article
- Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.Clinical genetics · 2022Article
- A Case of a 23-Year-Old Male With Leber Hereditary Optic Neuropathy With a Rare Mutation.Cureus · 2022Article
- The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence.Orphanet journal of rare diseases · 2022Review
- Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects.NeuroImage. Clinical · 2022Review
- The Natural History of Leber's Hereditary Optic Neuropathy in an Irish Population and Assessment for Prognostic Biomarkers.Neuro-ophthalmology (Aeolus Press) · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo determine whether the association between multiple sclerosis (MS) and Leber hereditary optic neuropathy (LHON) (known as "Harding disease") is a chance finding, or the 2 disorders are mechanistically linked.
methodsWe performed a United Kingdom-wide prospective cohort study of prevalent cases of MS with LHON mitochondrial DNA (mtDNA) mutations. The new cases were compared with published cases, enabling a comprehensive clinical description. We also performed a meta-analysis of studies screening patients with MS for LHON mtDNA mutations to find evidence of a genetic association.
resultsTwelve new patients were identified from 11 pedigrees, and 44 cases were identified in the literature. The combined cohort had the following characteristics: multiple episodes of visual loss, predominance for women, and lengthy time interval before the fellow eye is affected (average 1.66 years), which is very atypical of LHON; conversely, most patients presented without eye pain and had a poor visual prognosis, which is unusual for optic neuritis associated with MS. The number of UK cases of LHON-MS fell well within the range predicted by the chance occurrence of MS and the mtDNA mutations known to cause LHON. There was no association between LHON mtDNA mutations and MS in a meta-analysis of the published data.
conclusionsAlthough the co-occurrence of MS and LHON mtDNA mutations is likely to be due to chance, the resulting disorder has a distinct phenotype, implicating a mechanistic interaction. Patients with LHON-MS have a more aggressive course, and prognostication and treatment should be guarded.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.