Abstract
Leber’s hereditary optic atrophy (McKusick 30890) is characterized by severe abiotrophy of the pregeniculate optic pathway with acute onset in young adults, often without any other neurological symptoms. Most of the affected patients are male, but the disease is usually transmitted by the female. The mechanism of this genetic non-mendelian maternal hereditary transmission is not yet known, but the most probable hypothesis is mitochondrial inheritance, as mitochondria and their genetic heritage are of maternal origin.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Bonomi, F., Pagani, S., Cerletti, P. and Cannella, C. Rhodanese-mediated sulphur transfer to succinate dehydrogenase. Eur. J. Biochem. 72 (1977) 17–24
Cagianut, B., Schnebli, H. P., Rhyner, K. and Furrer, J. Decreased thiosulphate sulphur transferase (rhodanese) in Leber’s hereditary optic atrophy. Klin. Wochenschr. 62 (1984) 850–854
Federico, A., Manneschi, L. and Paolini, E. Biochemical difference between intermyofibrillar and subsarcolemmal mitochondria from human muscle. J. Inher. Metab. Dis. 10 Suppl. 2 (1987) 242–246
Nikoskelainen, E., Hassimem, I. E., Paljarvi, L., Lang, H. and Kalimo, K. Leber’s hereditary optic neuroretinopathy; a mitochondrial disease? Lancet 2 (1984) 1474
Novotny, E. J., Sing, G., Wallace, D. C., Dorfman, L. J., Louis, A., Sogg, R. L. and Steiman, L. Leber’s disease and dystonia: a mitochondrial disease. Neurology 36 (1986) 1053–1060
Pages, M. and Pages, A. M. Leber’s disease with spastic paraplegia and peripheral neuropathy. Case report with nerve biopsy study. Eur. Neurol. 22 (1983) 181–185
Pallini, R., Martelli, P., Bardelli, A. M., Guazzi, G. C. and Federico, A. Thiosulphate: cyanide sulphurtransferase in leucocytes from Leber’s patients. Enzyme characterization and activity levels. Neurology 37 (1987) 1878–1882
Poole, C. J. M. and Kind, P. R. M. Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber’s hereditary optic neuropathy. Br. Med. J. 292 (1986) 1229–1230
Author information
Authors and Affiliations
Editor information
Rights and permissions
Copyright information
© 1988 Springer Science+Business Media Dordrecht
About this chapter
Cite this chapter
Federico, A. et al. (1988). Histochemical, Ultrastructural and Biochemical Study of Muscle Mitochondria in Leber’s Hereditary Optic Atrophy. In: Pollitt, R.J., Harkness, R.A., Addison, G.M. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1259-5_29
Download citation
DOI: https://doi.org/10.1007/978-94-009-1259-5_29
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-010-7059-1
Online ISBN: 978-94-009-1259-5
eBook Packages: Springer Book Archive