Email this article DOI: https://doi.org/10.22141/2224-0713.7.93.2017.116553
Harding-syndrome — Leber’s hereditary optic neuropathy and multiple sclerosis: a clinical case and review of the literature
Abstract
This article presents the clinical observation of a female patient diagnosed with Harding syndrome — a combination of Leber’s hereditary optic neuropathy and multiple sclerosis. Distinctive features of pathogenesis are discussed.
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Man P. Leber hereditary optic neuropathy // Journal of Medical Genetics. — 2002. — 39(3). — 162-169. — doi: 10.1136/jmg.39.3.162.
Harding A., Sweeney M., Miller D. et al. Occurrence of a multiple sclerosis — like illness in women who have a Leber’s hereditary optic neuropathy mitochondrial DNA mutation // Brain. — 1992. — 115(4). — 979-989. — doi: 10.1093/brain/115.4.979.
Palace J. Multiple sclerosis associated with Leber’s Hereditary Optic Neuropathy // Journal of the Neurological Sciences. — 2009. — 286(1–2). — 24-27. — doi: 10.1016/j.jns.2009.09.009.
Giordano C., Carelli V. Reply: Mitochondrial DNA copy number differentiates the Leber’s hereditary optic neuropathy affected individuals from the unaffected mutation carriers // Brain. — 2015. — 139(1). — 2. — doi: 10.1093/brain/awv217.
Riordan-Eva P., Sanders M., Govan G., Sweeney M., Costa J., Harding A. The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation // Brain. — 1995. — 118(2). — 319-337. — doi: 10.1093/brain/118.2.319.
Lees F., Macdonald A., Turner J. Leber’s disease with symptoms resembling disseminated sclerosis // Journal of Neurology, Neurosurgery & Psychiatry. — 1964. — 27(5). — 415-421. — doi: 10.1136/jnnp.27.5.415.
Jansen P., van der Knaap M., de Coo I. Leber’s hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings // Journal of the Neurological Sciences. — 1996. — 135(2). — 176-180. — doi: 10.1016/0022-510x(95)00287-c.
Kovacs G. Neuropathology of white matter disease in Leber’s hereditary optic neuropathy // Brain. — 2004. — 128(1). — 35-41. — doi: 10.1093/brain/awh310.
Matthews L., Enzinger C., Fazekas F. et al. MRI in Leber’s hereditary optic neuropathy: the relationship to multiple sclerosis // Journal of Neurology, Neurosurgery & Psychiatry. — 2014. — 86(5). — 537-542. — doi: 10.1136/jnnp-2014-308186.
Ban M., Elson J., Walton A. et al. Investigation of the Role of Mitochondrial DNA in Multiple Sclerosis Susceptibility // PLoS One. — 2008. — 3(8). — 2891. — doi: 10.1371/journal.pone.0002891.
Mahad D., Ziabreva I., Lassmann H., Turnbull D. Mitochondrial defects in acute multiple sclerosis lesions // Brain. — 2008. — 131(7). — 1722-1735. — doi:10.1093/brain/awn105.
Lu F., Selak M., O’Connor J. et al. Oxidative damage to mitochondrial DNA and activity of mitochondrial enzymes in chronic active lesions of multiple sclerosis // Journal of the Neurological Sciences. — 2000. — 177(2). — 95-103. — doi: 10.1016/s0022-510x(00)00343-9.
Dutta R., McDonough J., Yin X. et al. Mitochondrial dysfunction as a cause of axonal degeneration in multiple sclerosis patients // Annals of Neurology. — 2006. — 59(3). — 478-489. — doi: 10.1002/ana.20736.
Mahad D., Lassmann H., Turnbull D. Review: Mitochondria and disease progression in multiple sclerosis // Neuropathology and Applied Neurobiology. — 2008. — 34(6). — 577-589. — doi: 10.1111/j.1365-2990.2008.00987.x.
Campbell G., Ziabreva I., Reeve A. et al. Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis // Annals of Neurology. — 2010. — 69(3). — 481-492. — doi: 10.1002/ana.22109.
Pfeffer G., Burke A., Yu-Wai-Man P., Compston D., Chinnery P. Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations // Neurology. — 2013. — 81(24). — 2073-2081. — doi: 10.1212/01.wnl.0000437308.22603.43.
Брюхов В.В., Попова Е.В., Кротенкова М.В., Бойко А.Н. Радиологически изолированный синдром (МРТ-критерии и тактика ведения больного) // Журнал неврологии и психиатрии им. C.C. Корсакова. — 2016. — 116. — 10(2). — 52-57.
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