ArticleJournal of neurology2020
Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.
Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Optimized ND4 allotopic expression for gene therapy of Leber's hereditary optic neuropathy.Frontiers in bioengineering and biotechnology · 2026Article
- Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices.Clinical & experimental ophthalmology · 2025Review
- Mitochondrial tRNAAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Pearls & Oy-sters: Leber Hereditary Optic Neuropathy-Plus Masquerading as Neuromyelitis Optica Spectrum Disorder in a 2-Year-Old Child.Neurology · 2023Article
- Effective treatment of choreaballism due to anClinical case reports · 2023Article
- Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report.BMC neurology · 2022Article
- A Case of a 23-Year-Old Male With Leber Hereditary Optic Neuropathy With a Rare Mutation.Cureus · 2022Article
- Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.Cerebellum (London, England) · 2022Article
- Leber's hereditary optic neuropathy: Update on current diagnosis and treatment.Frontiers in ophthalmology · 2022Review
- Leber's Hereditary Optic Neuropathy Plus Causing Recurrent Myelopathy due to an MT-DN1 Mutation at G3635A.Case reports in neurological medicine · 2022Article
- Article
- Mitochondrial Retinopathies.International journal of molecular sciences · 2021Review
- Oxidative Stress Profile in Genetically Confirmed Cases of Leber's Hereditary Optic Neuropathy.Journal of molecular neuroscience : MN · 2021Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Leber hereditary optic neuropathy (LHON) typically presents as painless central or centrocecal scotoma and is due to maternally inherited mitochondrial DNA (mtDNA) mutations. Over 95% of LHON cases are caused by one of three mtDNA "common" point mutations: m.3460G>A, m.11778G>A, or m.14484T>C, which are all in genes encoding structural subunits of complex I of the respiratory chain. Intriguing features of LHON include: incomplete penetrance, tissue specificity, and male predominance, indicating that additional genetic or environmental factors are modulating the phenotypic expression of the pathogenic mtDNA mutations. However, since its original description as a purely ophthalmological disorder, LHON has also been linked to multisystemic conditions with variable neurological, cardiac, and skeletal abnormalities. Although double "common" mutations have been reported to cause LHON and LHON-plus, they are extremely rare. Here, we present a patient with an unusual double point mutation (m.11778 G>A and m.14484T>C) with a multisystemic LHON-plus phenotype characterized by: optic neuropathy, ptosis, ataxia, dystonia, dysarthria, and recurrent extensive transverse myelitis.
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