Abstract
Leber’s hereditary optic neuropathy (LHON) is a well-defined disorder clinically characterized by acute or subacute bilateral visual loss, usually in young, otherwise healthy men. Women can also be affected. The disease is clearly maternally transmitted and, in contrast to X-inheritance, the descendants of men are never affected. ThSis particular type of genetic transmission directed the attention to the mitochondrial pathogenesis of the disease, which has recently been demonstrated (Wallace et al., 1988).
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References
Berninger, T.A., Meyer, L.V., Siess, E. et al. (1989) Br. J. Ophthalmol., 73, 314–16.
Bruyn, G.W. and Went, L.N. (1964) J. Neurol. Sci., 1, 59–80.
Cagianut, B., Schnebli, H.P., Rhyner, K. and Furrer, J. (1984) Klin. Wochenschr., 62, 850–4.
Cliff, J., Lundquist, P., Martensson, J. et al. (1985) Lancetss, i, 1211–13.
De Weerdt, C.J. and Wend, L.N. (1971) Acta Neurol. Scand., 47, 541–54.
Federico, A., Aitiani, P., Lo Monaco, B. et al. (1987) J. InheritedMetab. Dis. 10, (Suppl. 2), 256–9.
Federico, A., Manneschi, L., Meloni, M. et al. (1988) J. Inherited Metab. Dis., 11 (Suppl. 2), 193–7.
Hotta, Y, Hayaakawa, M., Saito, K. et al. (1989) Am. J. Ophthalmol., 108, 601–2.
Leber, Th. (1871) Albrecht v. Graefes Arch. Ophthalmol., 17, 249–91.
Lees, F., MacDonald, A.M.E. and Turner, J.W.A. (1964) J. Neurol. Neurosurg. Pschiat., 27, 415–21.
McLeod, J.G., Low, P.A. and Morgan, J.A. (1978) Neurology, 28, 179–84.
Mondelli, M., Rossi, A., Scarpini, C. et al. (1990) Acta Neurol. Scand., 81, 349–53.
Nikoskelainen, E. (1984) Neurology, 34, 1482–8.
Nikoskelainen, E., Hoyt, W.F. and Nummelin, K. (1982) Arch. Ophthalmol., 100, 1597–602.
Nikoskelainen, E., Hoyt, W.F. and Nummelin, K. (1983) Arch. Ophthalmol., 101, 1059–68.
Nikoskelainen, E., Hassinen, I.E., Raljarri, L. et al. (1984) Lancet, ii, 1474.
Nikoskelainen, E., Savontaus, M.L., Wanne, O. et al. (1987) Arch. Ophthalmol., 105, 665–71.
Nikoskelainen, E., Wanne, O. and Dahl, M. (1985) Lancet, i, 696.
Novotny, E.J., Singh, G., Wallace, D.C. et al. (1986) Neurology, 36, 1053–60.
Oldfors, A., Holme, E., Kristiansson, B. et al. (1989) Abstract, Meeting Molecular Basis of Neurological Disorders and their Treatment, Selva di Fasano, Sept. 11–14.
Pagani, G. and Galante, Y.M. (1983) Biochem. Biophys. Acta, 742, 278–84.
Pages, M. and Pages, A.M. (1983) Eur. Neurol., 22, 181–5.
Pallini, R., Martelli, P., Bardelli, A.M. et al. (1987) Neurology, 37, 1878–80.
Pallini, R., Dotti, M.T., Di Natale, P. et al. (1988) Brain Dysjunct., 1, 331–4.
Pallini, R., Cannella, C., Bardelli, A.M. et al. (1989) Bull. Mol. Biol. Med., 14, 1–10.
Parker, W.D., Jr, Oley, C.A. and Parks, J.K. (1989) N. Engl. J. Med., 320, 1331–1333.
Petty, R.K.H., Harding, A.E. and Morgan Hughes, J.A. (1986) Brain, 109, 915–38.
Poole, C.J.M. and Kind, P.R.N. (1986) Br. Med. J., 292, 1229–30.
Rieders, F. (1977) Trattato di farmacologia Medica di Drill, Piccin, Padova, pp. 1154–60.
Rogers, A.R. (1977) Aust. J. Ophthalmol., 5, 111–19.
Rose, F.C., Bowden, A.N. and Bowden, P.M.A. (1970) Br. J. Ophthalmol., 54, 388–93.
Syme, I.G., Bronte-Stewart, J., Foulds, W.S. et al. (1983) Trans. Ophthalmol. Soc. UK, 103, 556–9.
Vilkki, J., Savantaus, M.L. and Nikoskelainen, E.K. (1989) Am. J. Hum. Genet., 45, 206–11.
Wallace, D.C. (1970) Brain, 93, 121–32.
Wallace, D.C., Sing, G., Lott, M.T. et al. (1988) Science, 242, 1427–30.
Went, L.N. (1972) in Handbook of Clinical Neurology, Vol. 13 (eds P.J. Vinken and G.W. Bruyn), North-Holland, Amsterdam, pp. 94–110.
Wilson, J. (1965) J. Clin. Sci., 29, 505–15.
Yoneda, M., Tsuji, S., Yamauchi, T. et al. (1989) Lancet, ii, 1076–7.
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Federico, A. (1991). Leber’s hereditary optic neuropathy: from the clinical to the neurobiochemical and molecular findings for understanding the pathogenesis of the disorder. In: Gorrod, J.W., Albano, O., Ferrari, E., Papa, S. (eds) Molecular Basis of Neurological Disorders and Their Treatment. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-3114-8_16
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DOI: https://doi.org/10.1007/978-94-011-3114-8_16
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