Leber hereditary optic neuropathy

Man, P Y W; Turnbull, D M; Chinnery, P F

doi:10.1136/jmg.39.3.162

Cited by 520Mitochondrial Function and PathologyGlaucoma and retinal disordersHereditary Neurological Disorders

Leber hereditary optic neuropathy

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Man, P Y W, Turnbull, D M, Chinnery, P F·2002·Journal of Medical Genetics

DOI 10.1136/jmg.39.3.162PMC PMC1735056

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Abstract

Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the British population. It is characterised by bilateral subacute loss of central vision owing to focal degeneration of the retinal ganglion cell layer and optic nerve. Over 95% of LHON cases are primarily the result of one of three mitochondrial DNA (mtDNA) point mutations, G3460A, G11778A, and T14484C, which all involve genes encoding complex I subunits of the respiratory chain. An intriguing feature of LHON is that only approximately 50% of males and approximately 10% of females who harbour a pathogenic mtDNA mutation actually develop the optic neuropathy. This marked incomplete penetrance and gender bias imply that additional mitochondrial and/or nuclear genetic factors must be modulating the phenotypic expression of LHON. It is also likely that environmental factors contribute to the onset of visual failure. However, these secondary precipitating factors remain poorly defined at present. In this review, we describe the natural history of this optic nerve disorder and highlight issues relating to clinical diagnosis, management, and genetic counselling. We also discuss the findings of recently published studies and the light they shed on the complex aetiology and pathophysiology of LHON.

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Three primary LHON mtDNA mutations (m.11778G>A, m.3460G>A, and m.14484T>C) in total are present in at least 95% of LHON cases.
“There are three primary LHON mtDNA mutations (m.11778G N A, m.3460G N A, and m.14484T N C), which in total are present in at least 95% of LHON cases [56,124].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [124]

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Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440 · see citing works
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
Delettre, C., Lenaers, G., Griffoin, J.-M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc-Carel, C., Perret, E., et al. (2000) · Nature Genetics · doi:10.1038/79936 · Cited by 1,446 · see citing works
Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
(1990) · Trends in Genetics · doi:10.1016/0168-9525(90)90040-d · Cited by 1,386 · see citing works
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
Alexander, C., Votruba, M., Pesch, U. E. A., Thiselton, D. L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., et al. (2000) · Nature Genetics · doi:10.1038/79944 · Cited by 1,330 · see citing works
THE QUANTITATIVE HISTOCHEMISTRY OF THE RETINA
Lowry, O. H., Roberts, N. R., & Lewis, C. M. (1956) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)65313-x · Cited by 916 · see citing works
Mitochondrial dysfunction as a cause of optic neuropathies
Carelli, V., Ross‐Cisneros, F. N., & Sadun, A. A. (2004) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2003.10.003 · Cited by 839 · see citing works
C. elegans Dynamin-Related Protein DRP-1 Controls Severing of the Mitochondrial Outer Membrane
Labrousse, A. M., Zappaterra, M. D., Rube, D. A., & van der Bliek, A. M. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80391-3 · Cited by 670 · see citing works
Characterization of Superoxide-producing Sites in Isolated Brain Mitochondria
Kudin, A. P., Bimpong‐Buta, N., Vielhaber, S., Elger, C. E., & Kunz, W. S. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m310341200 · Cited by 505 · see citing works
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
Riordan‐Eva, P., Sanders, M. D., Govan, G. G., Sweeney, M. G., Costa, J. D., & Harding, A. E. (1995) · Brain · doi:10.1093/brain/118.2.319 · Cited by 490 · see citing works
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.
Torroni, A., Petrozzi, M., D'Urbano, L., Sellitto, D., Zeviani, M., Carrara, F., Carducci, C., Leuzzi, V., Carelli, V., Barboni, P., et al. (1997) · Europe PMC (PubMed Central) · Cited by 417 · see citing works
Age- and tissue-specific variation of X chromosome inactivation ratios in normal women
Sharp, A. J., Robinson, D., & Jacobs, P. A. (2000) · Human Genetics · doi:10.1007/s004390000382 · Cited by 405 · see citing works
The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the 11778 mutation
Newman, N. J., Lott, M. T., & Wallace, D. C. (1991) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)76784-4 · Cited by 403 · see citing works
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
Howell, N., Bindoff, L. A., McCullough, D. A., Kubacka, I., Poulton, J., Mackey, D. A., Taylor, L., & Turnbull, D. M. (1991) · PubMed · Cited by 400 · see citing works
Self-citation
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
Huoponen, K., Vilkki, J., Aula, P., Nikoskelainen, E. K., & Savontaus, M. L. (1991) · Europe PMC (PubMed Central) · Cited by 391 · see citing works
OCCURRENCE OF A MULTIPLE SCLEROSIS-LIKE ILLNESS IN WOMEN WHO HAVE A LEBER'S HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNA MUTATION
Harding, A. E., Sweeney, M. G., Miller, D. H., Mumford, C. J., Kellar-Wood, H., MENARD, D., McDonald, W. I., & Compston, D. A. S. (1992) · Brain · doi:10.1093/brain/115.4.979 · Cited by 390 · see citing works
Analysis of the Subunit Composition of Complex I from Bovine Heart Mitochondria*S
Carroll, J., Fearnley, I. M., Shannon, R. J., Hirst, J., & Walker, J. E. (2003) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m300014-mcp200 · Cited by 362 · see citing works
An ND-6 mitochondrial DNA mutation associated with leber hereditary optic neuropathy
Johns, D. R., Neufeld, M. J., & Park, R. D. (1992) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(92)90479-5 · Cited by 347 · see citing works
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
Mackey, D. A., Oostra, R., Rosenberg, T., Nikoskelainen, E. K., Brontë-Stewart, J., Poulton, J., Harding, A. E., Govan, G. G., Bolhuis, P. A., & Nørby, S. (1996) · PubMed Central · Cited by 339 · see citing works
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
Jun, A. S., Brown, M. D., & Wallace, D. C. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.13.6206 · Cited by 316 · see citing works
Ueber hereditäre und congenital-angelegte Sehnervenleiden
Leber, T. (1871) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/bf01694557 · Cited by 274 · see citing works
Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.
Nikoskelainen, E. K., Marttila, R. J., Huoponen, K., Juvonen, V., Lamminen, T., Sonninen, P. H., & Savontaus, M. L. (1995) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.59.2.160 · Cited by 270 · see citing works
Functional Analysis of Lymphoblast and Cybrid Mitochondria Containing the 3460, 11778, or 14484 Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
Brown, M. D., Trounce, I. A., Jun, A. S., Allen, J. C., & Wallace, D. C. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m006476200 · Cited by 260 · see citing works
Functional diversity in the dynamin family
van der Bliek, A. M., & van der Bliek, A. M. (1999) · Trends in Cell Biology · doi:10.1016/s0962-8924(98)01490-1 · Cited by 259 · see citing works
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
Brown, M. D., Torroni, A., Reckord, C. L., & Wallace, D. C. (1995) · Human Mutation · doi:10.1002/humu.1380060405 · Cited by 256 · see citing works
Leber's Hereditary Optic Neuropathy
Johns, D. R. (1992) · Archives of Ophthalmology · doi:10.1001/archopht.1992.01080230077025 · Cited by 250 · see citing works
Leber's Hereditary Optic Neuropathy
Newman, N. J. (1993) · Archives of Neurology · doi:10.1001/archneur.1993.00540050082021 · Cited by 244 · see citing works
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.
Howell, N., Kubacka, I., Xu, M., & McCullough, D. A. (1991) · PubMed · Cited by 237 · see citing works
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.
Mackey, D. A., & Howell, N. (1992) · PubMed · Cited by 225 · see citing works
Eco-Doppler arterial de miembros inferiores: la paradoja de la información cuantitativa y cualitativa
Luján-Huertas, S. (2005) · Angiología · doi:10.1016/s0003-3170(05)74921-x · Cited by 225 · see citing works
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.
Brown, M. D., Sun, F., & Wallace, D. C. (1997) · PubMed · Cited by 224 · see citing works
The pattern and mechanism of mitochondrial transport in axons
Hollenbeck, P. J. (1996) · Frontiers in bioscience · doi:10.2741/a118 · Cited by 219 · see citing works
The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J
Brown, M. D., Starikovskaya, E. B., Derbeneva, O. A., Hosseini, S., Allen, J. C., Mikhailovskaya, I. E., Sukernik, R. I., & Wallace, D. C. (2002) · Human Genetics · doi:10.1007/s00439-001-0660-8 · Cited by 215 · see citing works
Ophthalmologic Findings in Leber Hereditary Optic Neuropathy, with Special Reference to mtDNA Mutations
Nikoskelainen, E. K., Huoponen, K., Juvonen, V., Lamminen, T., Nummelin, K., & Savontaus, M.-L. (1996) · Ophthalmology · doi:10.1016/s0161-6420(96)30665-9 · Cited by 199 · see citing works
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
Johns, D. R., & Berman, J. (1991) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(91)91567-v · Cited by 198 · see citing works
Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium
Ghelli, A. M., Zanna, C., Porcelli, A. M., Schapira, A. H. V., Martinuzzi, A., Carelli, V., & Rugolo, M. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m210285200 · Cited by 190 · see citing works
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.
de Vries, D., Went, L. N., Bruyn, G. W., Scholte, H. R., Hofstra, R. M. W., Bolhuis, P. A., & van Oost, B. A. (1996) · PubMed Central · Cited by 188 · see citing works
Dominant optic atrophy mapped to chromosome 3q region
Kjer, B., Eiberg, H., Kjer, P., et al. (1996) · Acta Ophthalmologica Scandinavica · doi:10.1111/j.1600-0420.1996.tb00672.x · Cited by 182 · see citing works
Tissue specificity of X-chromosome inactivation patterns
Gale, R. E., Wheadon, H., Boulos, P. B., & Linch, D. C. (1994) · Blood · doi:10.1182/blood.v83.10.2899.2899 · Cited by 179 · see citing works
X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.
Bu, X. D., & Rotter, J. I. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.18.8198 · Cited by 175 · see citing works
Electron transfer properties of NADH: Ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)
Majander, A. S., Huoponen, K., Savontaus, M. L., Nikoskelainen, E. K., & Wikström, M. K. F. (1991) · FEBS Letters · doi:10.1016/0014-5793(91)80886-8 · Cited by 167 · see citing works
Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina
Andrews, R. M., Griffiths, P. G., Johnson, M. A., & Turnbull, D. M. (1999) · British Journal of Ophthalmology · doi:10.1136/bjo.83.2.231 · Cited by 167 · see citing works
Self-citation
Varicosities of Intraretinal Ganglion Cell Axons in Human and Nonhuman Primates
Wang, L., Dong, J., Cull, G. A., et al. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0333 · Cited by 166 · see citing works
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
Chinnery, P. F., Brown, D. T., Andrews, R. M., Kler, R. S., Riordan‐Eva, P., Lindley, J., Applegarth, D. A., Turnbull, D. M., & Howell, N. (2001) · Brain · doi:10.1093/brain/124.1.209 · Cited by 166 · see citing works
Self-citation
Respiration and Growth Defects in Transmitochondrial Cell Lines Carrying the 11778 Mutation Associated with Leber's Hereditary Optic Neuropathy
Hofhaus, G., Johns, D. R., Hurko, O., Attardi, G. M., & Chomyn, A. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.22.13155 · Cited by 163 · see citing works
Leber's hereditary optic neuropathy and complex I deficiency in muscle
Larsson, N., Andersen, O., Holme, E., Oldfors, A., & Wahlström, J. (1991) · Annals of Neurology · doi:10.1002/ana.410300511 · Cited by 162 · see citing works
Leber's Hereditary Optic Neuroretinopathy, a Maternally Inherited Disease
Nikoskelainen, E. K. (1987) · Archives of Ophthalmology · doi:10.1001/archopht.1987.01060050083043 · Cited by 161 · see citing works
Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy
Sadun, A. A., Carelli, V., Salomão, S. R., et al. (2003) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(03)00099-0 · Cited by 161 · see citing works
Ophthalmologic Findings in Leber Hereditary Optic Neuropathy, With Special Reference to mtDNA Mutations
Ek, N., Huoponen, K., Juvonen, V., Lamminen, T., Nummelin, K., & Savontaus, M. (1997) · Journal of Neuro-Ophthalmology · doi:10.1097/00041327-199703000-00027 · Cited by 158 · see citing works
Leber's hereditary optic neu-ropathy. Clinical manifestations of the 14484 mutation
Johns (1993) · Archives of Ophthalmology · Cited by 147 · see citing works
Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis
Kellar‐Wood, H., Robertson, N., Govan, G. G., Compston, D. A. S., & Harding, A. E. (1994) · Annals of Neurology · doi:10.1002/ana.410360121 · Cited by 145 · see citing works
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
Chinnery, P. F., Andrews, R. M., Turnbull, D. M., & Howell, N. (2001) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20010122)98:3 · Cited by 143 · see citing works
Self-citation
The histochemical localization of cytochrome oxidase in the retina and lateral geniculate nucleus of the ferret, cat, and monkey, with particular reference to retinal mosaics and ON/OFF-center visual channels
Kageyama, G. H., & Wong-Riley, M. (1984) · Journal of Neuroscience · doi:10.1523/jneurosci.04-10-02445.1984 · Cited by 138 · see citing works
Do Idebenone and Vitamin Therapy Shorten the Time to Achieve Visual Recovery in Leber Hereditary Optic Neuropathy?
Mashima, Y., Kigasawa, K., Wakakura, M., & Oguchi, Y. (2000) · Journal of Neuro-Ophthalmology · doi:10.1097/00041327-200020030-00006 · Cited by 136 · see citing works
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation.
Stone, E. M., Newman, N. J., Miller, N. R., Johns, D. R., Lott, M. T., & Wallace, D. C. (1992) · PubMed · Cited by 135 · see citing works
Cytochrome b mutations in Leber hereditary optic neuropathy
Johns, D. R., & Neufeld, M. J. (1991) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(91)92088-2 · Cited by 131 · see citing works
Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy
Mashima, Y., Yamada, K., Wakakura, M., Kigasawa, K., Kudoh, J., Shimizu, N., & Oguchi, Y. (1998) · Current Eye Research · doi:10.1080/02713689808951221 · Cited by 130 · see citing works
Mitochondrial DNA analysis: polymorphisms and pathogenicity
Chinnery, P. F., Howell, N., Andrews, R. M., & Turnbull, D. M. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.7.505 · Cited by 128 · see citing works
Self-citation
Leber's Hereditary Optic Neuropathy Masquerading as Tobacco-Alcohol Amblyopia
Cullom, M. E. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110048021 · Cited by 127 · see citing works
Leber's hereditary optic neuropathy
Carelli, V., Ghelli, A. M., Ratta, M., Bacchilega, E., Sangiorgi, S., Mancini, R., Leuzzi, V., Cortelli, P., Montagna, P., Lugaresi, E., et al. (1997) · Neurology · doi:10.1212/wnl.48.6.1623 · Cited by 124 · see citing works
MtDNA Mutations Associated with Leber′s Hereditary Optic Neuropathy: Studies on Cytoplasmic Hybrid (Cybrid) Cells
Vergani, L., Martinuzzi, A., Carelli, V., Cortelli, P., Montagna, P., Schievano, G., Carrozzo, R., Angelini, C. I., & Lugaresi, E. (1995) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1995.1740 · Cited by 123 · see citing works
Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy
Esposti, M. D., Carelli, V., Ghelli, A. M., Ratta, M., Crimi, M., Sangiorgi, S., Montagna, P., Lenaz, G., Lugaresi, E., & Cortelli, P. (1994) · FEBS Letters · doi:10.1016/0014-5793(94)00971-6 · Cited by 123 · see citing works
Heteroplasmy in Leber's Hereditary Optic Neuropathy
Smith, K. H. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110052022 · Cited by 122 · see citing works
Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.
Oostra, R., Bolhuis, P. A., Wijburg, F. A., Zorn-Ende, G., & Bleeker‐Wagemakers, E. M. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.4.280 · Cited by 121 · see citing works
Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.
Riordan‐Eva, P., & Harding, A. E. (1995) · Journal of Medical Genetics · doi:10.1136/jmg.32.2.81 · Cited by 119 · see citing works
A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy
Kerrison, J. B., Miller, N. R., Hsu, F., et al. (2000) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(00)00603-6 · Cited by 115 · see citing works
A Defect in Mitochondrial Electron-Transport Activity (NADH–Coenzyme Q Oxidoreductase) in Leber's Hereditary Optic Neuropathy
Parker, W. D., Oley, C. A., & Parks, J. K. (1989) · New England Journal of Medicine · doi:10.1056/nejm198905183202007 · Cited by 113 · see citing works
Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.
Howell, N., Kubacka, I., Halvorson, S. J., Howell, B., McCullough, D. A., & Mackey, D. A. (1995) · Genetics · doi:10.1093/genetics/140.1.285 · Cited by 111 · see citing works
Leber's disease in the Netherlands
van Senus, A. H. C. (1963) · Documenta Ophthalmologica · doi:10.1007/bf00573524 · Cited by 108 · see citing works
Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy
Macmillan, C., Kirkham, T. H., Fu, K., Allison, V., Andermann, E., Chitayat, D. A., Fortier, D., Gans, M., Hare, H., Quercia, N. L., et al. (1998) · Neurology · doi:10.1212/wnl.50.2.417 · Cited by 105 · see citing works
Leber hereditary optic neuropathy: Mitochondrial mutations and degeneration of the optic nerve
Howell, N. (1997) · Vision Research · doi:10.1016/s0042-6989(96)00167-8 · Cited by 105 · see citing works
Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy
Tsao, K., Aitken, P. A., & Johns, D. R. (1999) · British Journal of Ophthalmology · doi:10.1136/bjo.83.5.577 · Cited by 105 · see citing works
Evidence of Constriction of Optic Nerve Axons at the Lamina cribrosa in the Normotensive Eye in Humans and Other Mammals
Holländer, H., Makarov, F. N., Stefani, F. H., et al. (2009) · Ophthalmic Research · doi:10.1159/000267739 · Cited by 103 · see citing works
Cytochrome c Oxidase Mutations in Leber Hereditary Optic Neuropathy
Johns, D. R., & Neufeld, M. J. (1993) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1993.2321 · Cited by 103 · see citing works
LEBER’S HEREDITARY OPTIC ATROPHY SOME CLINICAL AND AETIOLOGICAL CONSIDERATIONS
Wilson, J. R. (1963) · Brain · doi:10.1093/brain/86.2.347 · Cited by 101 · see citing works
Optic Neuropathy Induced by Reductions in Mitochondrial Superoxide Dismutase
Qi, X., Lewin, A. S., Hauswirth, W. W., & Guy, J. R. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0864 · Cited by 98 · see citing works
Prevalence of Leishmania infection among AIDS patients
Alvar, J., Gutiérrez-Solar, B., Molina, R., et al. (1992) · The Lancet · doi:10.1016/0140-6736(92)91255-7 · Cited by 97 · see citing works
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy
Pegoraro, E., Schimke, R. N., Garcia, C., Stern, H. J., Cadaldini, M., Angelini, C. I., Barbosa, E., Carroll, J., Marks, W. A., Neville, H. E., et al. (1995) · Neurology · doi:10.1212/wnl.45.4.677 · Cited by 95 · see citing works
mtDNA Haplogroups and Frequency Patterns in Europe
Torroni, A., Richards, M. B., Macaulay, V. A., Forster, P., Villems, R., Nørby, S., Savontaus, M., Huoponen, K., Scozzari, R., & Bandelt, H. (2000) · The American Journal of Human Genetics · doi:10.1086/302789 · Cited by 95 · see citing works
Folate-Responsive Optic Neuropathy
Golnik, K. C., & Schaible, E. R. (1994) · Journal of Neuro-Ophthalmology · doi:10.1097/00041327-199409000-00008 · Cited by 94 · see citing works
Leber hereditary optic neuropathy in Australia
Mackey, D. A., & Buttery, R. (1992) · Australian and New Zealand Journal of Ophthalmology · doi:10.1111/j.1442-9071.1992.tb00937.x · Cited by 91 · see citing works
Mitochondrial abnormalities in ageing macular photoreceptors
Barron, M. J., Johnson, M. A., Andrews, R. M., Clarke, M., Griffiths, P. G., Bristow, E., He, L., Durham, S., & Turnbull, D. M. (2001) · PubMed · doi:10.25405/ncl.34603167 · Cited by 90 · see citing works
Self-citation
Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance
Torroni, A., & Wallace, D. C. (1994) · Journal of Bioenergetics and Biomembranes · doi:10.1007/bf00763098 · Cited by 89 · see citing works
Identification of a Fission Yeast Dynamin-Related Protein Involved in Mitochondrial DNA Maintenance
Pelloquin, L., Belenguer, P., Menon, Y., et al. (1998) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1998.9539 · Cited by 82 · see citing works
Association of the 11778 mitochondria1 DNA mutation and demyelinating disease
Flanigan, K. M., & Johns, D. R. (1993) · Neurology · doi:10.1212/wnl.43.12.2720 · Cited by 82 · see citing works
Pre-excitation syndrome in Leber's hereditary optic neuropathy
Nikoskelainen, E. K. (1994) · The Lancet · doi:10.1016/s0140-6736(94)92830-4 · Cited by 80 · see citing works
The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy
Cock, H. R., Tabrizi, S. J., Cooper, J. A. D., & Schapira, A. H. V. (1998) · Annals of Neurology · doi:10.1002/ana.410440208 · Cited by 77 · see citing works
Platelet mitochondrial function in Leber's hereditary optic neuropathy
Smith, P. R., Cooper, J. A. D., Govan, G. G., Harding, A. E., & Schapira, A. H. V. (1994) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(94)90055-8 · Cited by 76 · see citing works
A case-control study of Leber's hereditary optic neuropathy
Chalmers, R. M., & Harding, A. E. (1996) · Brain · doi:10.1093/brain/119.5.1481 · Cited by 76 · see citing works
Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.
Sweeney, M. G., Davis, M. B., Lashwood, A., Brockington, M., Toscano, A., & Harding, A. E. (1992) · PubMed · Cited by 75 · see citing works
Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation
Olsen, N. K., Hansen, A. W., Nørby, S., Edal, A. L., Jørgensen, J. R., & Rosenberg, T. (1995) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.1995.tb07016.x · Cited by 75 · see citing works
In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy
Lodi, R., Taylor, D. J., Tabrizi, S. J., Kumar, S., Sweeney, M. G., Wood, N. W., Styles, P., Radda, G. K., & Schapira, A. H. V. (1997) · Annals of Neurology · doi:10.1002/ana.410420407 · Cited by 73 · see citing works
Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Cock, H. R., Cooper, J. M., & Schapira, A. H. V. (1999) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(99)00088-x · Cited by 72 · see citing works
New Insights into the Bioenergetics of Mitochondrial Disorders Using Intracellular ATP Reporters
Gajewski, C. D., Yang, L., Schon, E. A., & Manfredi, G. (2003) · Molecular Biology of the Cell · doi:10.1091/mbc.e02-12-0796 · Cited by 72 · see citing works
Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy
Brown, M. (1994) · Clinical neuroscience · Cited by 72 · see citing works
The inheritance of Leber's disease
Seedorff, T. (1985) · Acta Ophthalmologica · doi:10.1111/j.1755-3768.1985.tb01526.x · Cited by 71 · see citing works
Catalytic Activity of Complex I in Cell Lines that Possess Replacement Mutations in the ND Genes in Leber's Hereditary Optic Neuropathy
Majander, A. S., Finel, M., Savontaus, M., Nikoskelainen, E. K., & Wikström, M. K. F. (1996) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1996.0201u.x · Cited by 71 · see citing works
Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy
Inglese, M. (2001) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.70.4.444 · Cited by 71 · see citing works
Defective brain and muscle energy metabolism shown by in vivo 31 P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation
Barbiroli, B., Montagna, P., Cortelli, P., et al. (1995) · Neurology · doi:10.1212/wnl.45.7.1364 · Cited by 70 · see citing works
Optic Disk Cupping and Electrocardiographic Abnormalities in an American Pedigree with Leber's Hereditary Optic Neuropathy
Ortiz, R. G., Newman, N. J., Manoukian, S. V., Diesenhouse, M. C., Lott, M. T., & Wallace, D. C. (1992) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)74730-0 · Cited by 69 · see citing works
Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis
Vanopdenbosch, L. J., Dubois, B. X. E. N. X. E. D., D'hooghe, M. B., Meire, F. X. E. O., & Carton, H. (2000) · Journal of Neurology · doi:10.1007/s004150070153 · Cited by 69 · see citing works
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees
Yu‐Wai‐Man, P., Howell, N., Mackey, D. A., Nørby, S., Rosenberg, T., Turnbull, D. M., & Chinnery, P. F. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.011247 · Cited by 66 · see citing works
Self-citation
mtDNA Mutations That Cause Optic Neuropathy: How Do We Know?
Howell, N., Smejkal, C. B., Jamieson, R. V., Marenda, D. R., & Mackey, D. A. (1998) · The American Journal of Human Genetics · doi:10.1086/301675 · Cited by 65 · see citing works
A Histopathologic and Morphometric Differentiation of Nerves in Optic Nerve Hypoplasia and Leber Hereditary Optic Neuropathy
Saadati, H. G. (1998) · Archives of Ophthalmology · doi:10.1001/archopht.116.7.911 · Cited by 65 · see citing works
Low penetrance of the 14484 LHON mutation when it arises in a non‐haplogroup J mtDNA background
Howell, N., Herrnstadt, C., Shults, C. W., et al. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20135 · Cited by 65 · see citing works
FURTHER CLINICAL AND PATHOLOGICAL OBSERVATIONS ON LEBER'S OPTIC ATROPHY
ADAMS, J. H., BLACKWOOD, W., & Wilson, J. W. (1966) · Brain · doi:10.1093/brain/89.1.15 · Cited by 65 · see citing works
`Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation
Lodi, R. (2000) · Brain · doi:10.1093/brain/123.9.1896 · Cited by 63 · see citing works
De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy
Biousse, V., Brown, M. D., Newman, N. J., Allen, J. C., Rosenfeld, J., Meola, G., & Wallace, D. C. (1997) · Neurology · doi:10.1212/wnl.49.4.1136 · Cited by 62 · see citing works
Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis
Kim, J. Y., Hwang, J., & Park, S. S. (2002) · Annals of Neurology · doi:10.1002/ana.10177 · Cited by 62 · see citing works
Low-Penetrance Branches in Matrilineal Pedigrees with Leber Hereditary Optic Neuropathy
Howell, N., & Mackey, D. A. (1998) · The American Journal of Human Genetics · doi:10.1086/302049 · Cited by 62 · see citing works
Mutation Analysis of the ND6 Gene in Patients with Lebers Hereditary Optic Neuropathy
Wissinger, B., Besch, D., Baumann, B., et al. (1997) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1997.6660 · Cited by 61 · see citing works
Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy
Carelli, V., Vergani, L., Bernazzi, B., Zampieron, C., Bucchi, L., Valentino, M. L., Rengo, C., Torroni, A., & Martinuzzi, A. (2002) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/s0925-4439(02)00097-2 · Cited by 61 · see citing works
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
Delettre, C., Lenaers, G., Griffoin, J.-M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc‐Carel, C., Perret, E., et al. (2001) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(01)00852-2 · Cited by 60 · see citing works
High incidence of pre‐excitation syndrome in Japanese families with Leber's hereditary optic neuropathy
Mashima, Y., Kigasawa, K., Hasegawa, H., Tani, M., & Oguchi, Y. (1996) · Clinical Genetics · doi:10.1111/j.1399-0004.1996.tb02732.x · Cited by 60 · see citing works
Leber's hereditary optic neuropathy
Cortelli, P., Montagna, P., Avoni, P., et al. (1991) · Neurology · doi:10.1212/wnl.41.8.1211 · Cited by 59 · see citing works
A probable case of cytoplasmic inheritance in man: A critique of leber’s disease
IMAI, Y., & Moriwaki, D. (1936) · Journal of Genetics · doi:10.1007/bf02982530 · Cited by 56 · see citing works
Identical Twins Who Are Discordant for Leber's Hereditary Optic Neuropathy
Johns, D. R. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110057023 · Cited by 56 · see citing works
The neuropathology of hereditary optic atrophy (Leber's disease); the first complete anatomic study.
KWITTKEN, J., & Barest, H. D. (2000) · PubMed · Cited by 55 · see citing works
Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings
Jansen, P. H. P., van der Knaap, M. S., & de Coo, I. F. M. (1996) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(95)00287-c · Cited by 54 · see citing works
Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection
Shaikh, S., Ta, C. N., Basham, A. A., et al. (2001) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(00)00716-9 · Cited by 52 · see citing works
Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy
Lodi, R. (2002) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.72.6.805 · Cited by 52 · see citing works
Magnetic Resonance Imaging Findings in Leber’s Hereditary Optic Neuropathy
Dotti, M. T., Caputo, N., Signorini, E., & Federico, A. (2008) · European Neurology · doi:10.1159/000116781 · Cited by 52 · see citing works
When does bilateral optic atrophy become Leber hereditary optic neuropathy?
Howell, N., Halvorson, S. J., Burns, J., McCullough, D. A., & Paulton, J. (1993) · PubMed · Cited by 50 · see citing works
Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation.
Black, G. C. M., Morten, K., Laborde, A., & Poulton, J. (1996) · British Journal of Ophthalmology · doi:10.1136/bjo.80.10.915 · Cited by 50 · see citing works
Leber's Hereditary Optic Neuropathy—The Spectrum of Mitochondrial DNA Mutations in Chinese Patients
Yen, M. (2002) · Japanese Journal of Ophthalmology · doi:10.1016/s0021-5155(01)00460-9 · Cited by 50 · see citing works
Apoptotic Cell Death of Cybrid Cells Bearing Leber's Hereditary Optic Neuropathy Mutations Is Caspase Independent
Zanna, C., Ghelli, A. M., Porcelli, A. M., Carelli, V., Martinuzzi, A., & Rugolo, M. (2003) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1299.037 · Cited by 50 · see citing works
Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.
Chalmers, R. M., Davis, M. B., Sweeney, M. G., Wood, N. W., & Harding, A. E. (1996) · PubMed Central · Cited by 48 · see citing works
Cardiac arrhythmia and Leber's hereditary optic neuropathy
Bower, S., Hawley, I., & Mackey, D. A. (1992) · The Lancet · doi:10.1016/0140-6736(92)91257-9 · Cited by 48 · see citing works
A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy.
Sadun, A. A., Carelli, V., Salomão, S. R., Berezovsky, A., Quirós, P. A., Sadun, F., DeNegri, A., Andrade, R., Schein, S., & Belfort, R. (2002) · Europe PMC (PubMed Central) · Cited by 47 · see citing works
Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations
Meire, F. M., Candaele, C., Coster, R. V., et al. (1995) · Ophthalmic Genetics · doi:10.3109/13816819509059971 · Cited by 45 · see citing works
Predominance of the T14484C Mutation in French-Canadian Families with Leber Hereditary Optic Neuropathy Is Due to a Founder Effect
Macmillan, C., Johns, T. A., Fu, K., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302716 · Cited by 43 · see citing works
Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis
Chen, J.-D., Cox, I., & Denton, M. J. (1989) · Human Genetics · doi:10.1007/bf00291154 · Cited by 43 · see citing works
Leber's disease : a genealogic, genetic and clinical study of 101 cases of retrobulbar optic neuritis in 20 Danish families
Lundsgaard, R., & Fraser, R. (1944) · Medical Entomology and Zoology · Cited by 42 · see citing works
Cerebellar ataxia in patients with Leber's hereditary optic neuropathy
Funakawa, I., Kato, H., Terao, A., Ichihashi, K., Kawashima, S., Hayashi, T., Mitani, K., & Miyazaki, S. (1995) · Journal of Neurology · doi:10.1007/bf00887819 · Cited by 42 · see citing works
LEBER'S DISEASE
Seedorff, T. (1968) · Acta Ophthalmologica · doi:10.1111/j.1755-3768.1968.tb02490.x · Cited by 42 · see citing works
No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers
Oostra, R., Kemp, S., Bolhuis, P. A., & Bleeker‐Wagemakers, E. M. (1996) · Human Genetics · doi:10.1007/bf02267075 · Cited by 39 · see citing works
The Mitochondrial DNA Mutation ND6*14,484C Associated with Leber Hereditary Optic Neuropathy, Leads to Deficiency of Complex I of the Respiratory Chain
Oostra, R., Vangalen, M. J. M., Bolhuis, P. A., et al. (1995) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1995.2563 · Cited by 39 · see citing works
X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant
Pegoraro, E., Carelli, V., Zeviani, M., Cortelli, P., Montagna, P., Barboni, P., Angelini, C. I., & Hoffman, E. P. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960202)61:4 · Cited by 39 · see citing works
Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy
Zhu, D., Economou-Petersen, E., Antonarakis, S. E., & Maumenee, I. H. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420208 · Cited by 37 · see citing works
Optic Nerve Enhancement on Orbital Magnetic Resonance Imaging in Leber??s Hereditary Optic Neuropathy
Vaphiades, M. S., & Newman, N. J. (1999) · Journal of Neuro-Ophthalmology · doi:10.1097/00041327-199912000-00006 · Cited by 36 · see citing works
The two locus control of Leber hereditary optic neurophathy and a high penetrance in Japanese pedigrees
Nakamura, M., Fujiwara, Y., & Yamamoto, M. (1993) · Human Genetics · doi:10.1007/bf00217353 · Cited by 36 · see citing works
Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7
Carvalho, M. R. S., ller, B. M. U., tzer, E. R. O., et al. (1992) · Human Heredity · doi:10.1159/000154089 · Cited by 34 · see citing works
Evidence for a metabolic trigger for Leber's hereditary optic neuropathy. A case report.
Lg, D., & Feldon, S. E. (1992) · PubMed · Cited by 34 · see citing works
Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation
Oostra, R., Bolhuis, P. A., Zorn-Ende, I., de Kok, M., & Bleeker‐Wagemakers, E. M. (1994) · Human Genetics · doi:10.1007/bf00208281 · Cited by 33 · see citing works
Orbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber's hereditary optic neuropathy
Mashima, Y., Oshitari, K., Imamura, Y., Momoshima, S., Shiga, H., & Oguchi, Y. (1998) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.64.1.124 · Cited by 33 · see citing works
Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene
Besch, D., Leo‐Kottler, B., Zrenner, E., & Wissinger, B. (1999) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s004170050307 · Cited by 32 · see citing works
HEREDITARY OPTIC ATROPHY (LEBER'S DISEASE)
Merritt, H. H. (1930) · Archives of Neurology And Psychiatry · doi:10.1001/archneurpsyc.1930.02220160111012 · Cited by 32 · see citing works
The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity.
Cock, H. R., Cooper, J. M., & Schapira, A. H. V. (1995) · PubMed · Cited by 32 · see citing works
alpha-Tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutation
Klivènyi, P. (2001) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.70.3.359 · Cited by 31 · see citing works
Antibodies to human optic nerve in Leber's hereditary optic neuropathy
Smith, P. R., Cooper, J. M., Govan, G. G., et al. (1995) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(95)00021-s · Cited by 30 · see citing works
Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema
Bissler, J. J., Donaldson, V. H., & Davis, A. E. (1994) · Human Genetics · doi:10.1007/bf00212020 · Cited by 30 · see citing works
Leber’s hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery
Leo‐Kottler, B., Luberichs, J., Besch, D., Christ-Adler, M., & Fauser, S. (2002) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-002-0494-7 · Cited by 29 · see citing works
Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population
Finnilä, S., & Majamaa, K. (2001) · Journal of Human Genetics · doi:10.1007/s100380170110 · Cited by 26 · see citing works
Leber's hereditary optic neuropathy mitochondrial DNA mutations in familial multiple sclerosis
Mojon, D. S., Fujihara, K., Hirano, M., Miller, C., Lincoff, N. S., Jacobs, L., & Greenberg, S. J. (1999) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s004170050243 · Cited by 26 · see citing works
Carbon monoxide poisoning as an epigenetic factor for Leber's hereditary optic neuropathy
Hwang, J. M., & Park, H. W. (1996) · Korean Journal of Ophthalmology · doi:10.3341/kjo.1996.10.2.122 · Cited by 24 · see citing works
Mitochondrial DNA mutation in Leber's hereditary optic neuropathy.
Yen, M., Yen, T., Pang, C., Liu, J., & Wei, Y. (1992) · PubMed · Cited by 23 · see citing works
Leber hereditary optic neuropathy: estimation of number of embryonic precursor cells and disease threshold in heterozygous affected females at the X‐linked locus
Bu, X., & Rotter, J. I. (1992) · Clinical Genetics · doi:10.1111/j.1399-0004.1992.tb03226.x · Cited by 21 · see citing works
Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy.
Montagna, P., Plazzi, G., Cortelli, P., et al. (1995) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.58.5.640 · Cited by 21 · see citing works
Optic nerve sheath distention in Leber's optic neuropathy and the significance of the "Wallace mutation".
Jl, S., Dt, T., Sf, B., et al. (1990) · PubMed · Cited by 19 · see citing works
Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy.
Handoko, H. Y., Wirapati, P., Sudoyo, H., et al. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.8.668 · Cited by 18 · see citing works
Optic nerve enhancement on orbital magnetic resonance imaging in Leber's hereditary optic neuropathy
Vaphiades (1999) · Medical Entomology and Zoology · Cited by 18 · see citing works
Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: A possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly
Tommerup, N., Mortensen, E., Nielsen, M. H., et al. (1993) · Human Genetics · doi:10.1007/bf01247331 · Cited by 17 · see citing works
Identical Twins No Longer Discordant for Leber's Hereditary Optic Neuropathy
Lam, B. L. (1998) · Archives of Ophthalmology · doi:10.1001/archopht.116.7.956 · Cited by 15 · see citing works
A Family With Leber??s Hereditary Optic Neuropathy With Mitochondrial DNA Heteroplasmy Related to Disease Expression
Tanaka, A., Kiyosawa, M., Mashima, Y., et al. (1998) · Journal of Neuro-Ophthalmology · doi:10.1097/00041327-199806000-00001 · Cited by 15 · see citing works
HLA class II genotypes in Leber's hereditary optic neuropathy
Govan, G. G., Smith, P. R., Kellar-Wood, H., et al. (1994) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(94)90272-0 · Cited by 14 · see citing works
TISSUE-SPECIFICITY OF X-CHROMOSOME INACTIVATION PATTERNS
GALE, R., Wheadon, H., BOULOS, P., et al. (1993) · UCL Discovery (University College London) · Cited by 14 · see citing works
HLA class I genotypes in Leber's hereditary optic neuropathy
Chalmers, R. M., Govan, G. G., Schapira, A. H. V., et al. (1996) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(95)00286-b · Cited by 12 · see citing works
Magnetization transfer and diffusion tensor MR imaging of the optic radiations and calcarine cortex from patients with Leber's hereditary optic neuropathy
Inglese, M., Rovaris, M., Bianchi, S., et al. (2001) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(01)00542-1 · Cited by 10 · see citing works
Distended optic nerve sheaths in Leber's hereditary optic neuropathy.
de Gottrau, P., Büchi, E. R., & Daicker, B. (1992) · PubMed · Cited by 9 · see citing works
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy
Man, P. Y. W., Morris, C. M., Zeviani, M., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.4.e41 · Cited by 8 · see citing works
Self-citation
Annual Review in Neuro-Ophthalmology The Anterior Visual Pathways
Sadun, A. A., & Dao, J. (1994) · Journal of Neuro-Ophthalmology · doi:10.1097/00041327-199409000-00004 · Cited by 8 · see citing works
Genotypes of aldehyde dehydrogenase and alcohol dehydrogenase polymorphisms in patients with leber’s hereditary optic neuropathy
Isashiki, Y., Tabata, Y., Kamimura, K., et al. (1997) · The Japanese Journal of Human Genetics · doi:10.1007/bf02766921 · Cited by 7 · see citing works
Mitochondrial DNA analysis in Leber's hereditary optic neuropathy
Barboni, P., Mantovani, V., Montagna, P., Bragliani, M., Cortelli, P., Lugaresi, E., Puddu, P., & Caramazza, R. (1992) · Ophthalmic Paediatrics and Genetics · doi:10.3109/13816819209105170 · Cited by 7 · see citing works
In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by P-31 magnetic resonance spectroscopy
Lodi, R., Taylor, D., Tabrizi, S., et al. (1997) · UCL Discovery (University College London) · Cited by 5 · see citing works
No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers
Oostra, R., Kemp, S., Bolhuis, P. A., et al. (1996) · Human Genetics · doi:10.1007/s004390050081 · Cited by 4 · see citing works
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Khan (2000) · doi:10.1002/1531-8249(200008)48:2
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Price (1999) · doi:10.1002/1531-8249(199903)45:3

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Research works printed but not linked: 6

Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 1995;57:77-86.
Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000;48:188-93.
Sherman J, Kleiner L. Visual-system dysfunction in Lebers hereditary optic neuropathy. Clin Neurosci 1994;2:121-9.
Inglese M, Rovaris M, Bianchi S, Mancardi GL, Ghezzi A, Salvi F, Cortelli P, Filippi M. MRI, MTI, and DWI study of the optic nerve, brain, and cervical cord from patients with Leber hereditary optic neuropathy. Neurology 2000;54:A320.
Nikoskelainen EK. Clinical picture of LHON. Clin Neurosci 1994;2:115-20.
Man PYW, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet 2002;39:162-169 doi:10.1136/jmg.39.3.162. The first author's name of all three papers has been corrected to Patrick Yu-Wai-Man. J Med Genet 2016;53:493. doi:10.1136/jmg-2003-011247corr1, doi:10.1136/jmg-40.4.e41corr1, and doi:10.1135.jmg.39.3.162corr1 Li W, et al. J Med Genet 2016;53:488-493. doi:10.1136/jmedgenet-2015-103684 · DOI

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Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676 · see citing works
“14484TNC), which in total are present in at least 95% of LHON cases [56,124].”
BackgroundSelf-citation
Hereditary optic neuropathies: from the mitochondria to the optic nerve.
Newman, N. J. (2005) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2005.03.017 · Cited by 209 · see citing works
The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes
Bonnet, C., Augustin, S., Ellouze, S., Bénit, P., Bouaita, A., Rustin, P., Sahel, J.-A., & Corral-Debrinski, M. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2008.04.018 · Cited by 130 · see citing works
Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
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Macarrón, C. P.-C., Leon, M. D., Fernández, L., et al. (2015) · Journal of Pediatric Neurology · doi:10.1055/s-0035-1557279
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Ohtake, A., Murayama, K., Mori, M., Harashima, H., Yamazaki, T., Tamaru, S., Yamashita, Y., Kishita, Y., Nakachi, Y., Kohda, M., et al. (2014) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2014.01.025 · Cited by 59 · see citing works
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease
Watanabe, C., Osaka, H., Watanabe, M., Miyauchi, A., Jimbo, E. F., Tokuyama, T., Uosaki, H., Kishita, Y., Okazaki, Y., Onuki, T., et al. (2023) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2022.100951 · Cited by 11 · see citing works
Normal Muscle Respiratory Chain Enzymes Can Complicate Mitochondrial Disease Diagnosis
Oglesbee, D., Freedenberg, D. L., Kramer, K. A., et al. (2006) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2006.05.007 · Cited by 20 · see citing works
Genetic defects causing mitochondrial respiratory chain disorders and disease
Christodoulou, J. (2000) · Human Reproduction · doi:10.1093/humrep/15.suppl_2.28 · Cited by 34 · see citing works

Authors: Man, P. Y. W., Turnbull, D. M., & Chinnery, P. F.
Affiliations: Newcastle University (GB)
Corresponding author: Chinnery, P F
ORCID: Chinnery, P F
Venue: Journal of Medical Genetics
Publisher: BMJ
Published: 2002-03
Volume: 39
Issue: 3
Pages: 162-169
ISSN: 0022-2593 (ISSN-L)
1468-6244
DOI: 10.1136/jmg.39.3.162
PMC: PMC1735056
OpenAlex: W2002896548
Cited by: 520
References: 176
Citations by year: 2026: 17 · 2025: 18 · 2024: 29 · 2023: 28 · 2022: 33 · 2021: 36 · 2020: 27 · 2019: 19 · 2018: 24 · 2017: 20 · 2016: 23 · 2015: 12 · 2014: 16 · 2013: 10 · 2012: 19
FWCI: 1.59
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Journal of Medical Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Newcastle University ePrints (Newcastle Univesity)
Funders: Medical Research Council
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Health Sciences › Medicine › Ophthalmology › Glaucoma and retinal disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: Leber's hereditary optic neuropathy, mitochondrial DNA mutations, G11778A mutation, retinal ganglion cell death, optic neuropathy, incomplete penetrance, sex bias, environmental factors, natural history (disease), diagnosis, genetic counseling, pathophysiology
MeSH terms: DNA, Mitochondrial, England, Genetic Counseling, Haplotypes, Humans, Mutation, Penetrance, Optic Atrophy, Hereditary, Leber

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