Brain Gangliosides in Krabbe Disease

  • Lars Svennerholm
  • Marie-Thérèse Vanier
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)

Abstract

Infantile globoid cell leucodystrophy (GLD) or Krabbe disease is considered to be a rare genetic disease, but in Scandinavia at the present time it is the most common form of the sphingolipidoses. In 1963 we published clinical neuropathological, and biochemical studies of six cases (Hagberg et al., 1963) and more recently Hagberg et al. (1969) reported clinical and genetic studies of 32 Swedish cases collected during a 15-year period. Autopsy material from 12 representative cases from this study, and from 5 new cases, has been used in the present biochemical study.

Keywords

White Matter Cerebral Cortex Alditol Acetate Subacute Sclerosing Panencephalitis Brain Ganglioside 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. 1.
    Arce A., Maccioni H.J. and Caputto R. The incorporation of galactose, N-acetylgalactosamine and N-acetylneuraminic acid into endogenous acceptors of subcellular particles from rat brain in vitro. Biochem. J., 121, 483, 1971.PubMedGoogle Scholar
  2. 2.
    Austin J.H. Studies in globoid cell leucodystrophy. Arch.Neurol.(Chic.), 9, 207, 1963.CrossRefGoogle Scholar
  3. 3.
    Austin J.H. and Lehfeldt D. Studies in globoid(Krabbe) leucodystrophy III - Significance of experimentally produced globoidlike elements in rat white matter and spleen. J. Neuropath.exp.Neurol., 24, 265, 1965.PubMedCrossRefGoogle Scholar
  4. 4.
    Austin J.H., Suzuki K., Armstrong D., Brady R., Bachhawat B.K., Schlenker J., Stumpf D. Studies in globoid(Krabbe) leukodystrophy (GT,D) V - Controlled enzymic studies in ten human cases. Arch.Neurol., 23, 502, 1970.PubMedCrossRefGoogle Scholar
  5. 5.
    Brante G. Studies on lipids in the nervous system. Acta physiol.Scand., 18, suppl. 63, 164. 1949.Google Scholar
  6. 6.
    Crowell E.P., Burnett B.B. Determination of the carbohydrate composition of wood pulps by gas chromatography of the alditol acetates. Anal. Chem., 39, 121, 1967.CrossRefGoogle Scholar
  7. 7.
    Eto Y. and Suzuki K. Brain sphingoglycolipids in Krabbe’s globoid cell leucodystrophy. J. Neurochem., 18, 503, 1971.PubMedCrossRefGoogle Scholar
  8. 8.
    Hagberg B., Kollberg H., Sourander P. and Ikesson H.O. Infantile globoid cell leucodystrophy. Neuropädiatrie 1, 74, 1969.PubMedCrossRefGoogle Scholar
  9. 9.
    Hagberg B., Sourander P. and Svennerholm L. Diagnosis of Krabbe’s infantile leucodystrophy. J. Neurol. Neurosurg.Psych. 26, 195, 1963.CrossRefGoogle Scholar
  10. 10.
    Hamberger A. and Svennerholm L. Composition of gangliosides and phospholipids in neuronal and glial cell enriched fractions. J. Neurochem., 18, 1821, 1971.PubMedCrossRefGoogle Scholar
  11. 11.
    Kaufman B., Basu S., Roseman S. Studies on the biosynthesis of gangliosides. In Inborn disorders of sphingolipid metabolism, Aronson S.M. and Volk B.W. eds.), Oxford, Pergamon Press Ltd. 1967, P. 193.Google Scholar
  12. 12.
    Kaufman B., Basu S. and Roseman S. Enzymatic synthesis of disialogangliosides from monosialogangliosides by sialyltransferases from embryonic chicken brain. J. Biol. Chem. 243, 5804, 1968.PubMedGoogle Scholar
  13. 13.
    Ledeen R., Salsman K. and Cabrera M. Gangliosides in subacute sclerosing panencephalitis: isolation and fatty acid composition of nine fractions. J. Lipid Res. 9, 129, 1968.PubMedGoogle Scholar
  14. 14.
    Norton W.T. and Poduslo S.E. Neuronal perikarya and astroglia of rat brain: chemical composition during myelination. J. Lipid Res. 12, 84, 1971.PubMedGoogle Scholar
  15. 15.
    Öhman R., Ekelund H. and Svennerholm L. The diagnosis of Tay Sachs disease. Acta Paediat. Scand. 60, 399, 1971.PubMedCrossRefGoogle Scholar
  16. 16.
    Öuman R. and Svennerholm L. The activity of ganglioside sialidase in the developing human brain. J. Neurochem. 18, 79, 1971.CrossRefGoogle Scholar
  17. 17.
    Olsson Y., Sourander P. and Svennerholm L. Experimental studies on the pathogenesis of leucodystrophies I - The effect of intracerebrally injected sphingolipids in the rat’s brain. Acta neuropath.(Berl.) 6, 153, 1966.CrossRefGoogle Scholar
  18. 18.
    Radin N.S. and Arora R.C. A simplified assay method for galactosylceramide ß-galactosidase. J.Lipid Res. 12, 256, 1971.PubMedGoogle Scholar
  19. 19.
    Sawardeker J.S., Sloneker J.H. and Jeanes A. Quantitative determination of monosaccharides as their alditol acetates by gas liquid chromatography. Anal. Chem. 37, 1602, 1965.CrossRefGoogle Scholar
  20. 20.
    Sourander P., Hansson H.A., Olsson Y. and Svennerholm L. Experimental studies of the pathogenesis of leucodystrophies II - The effect of sphingolipids on various cell types in cultures from the nervous system. Acta neuropath. 6, 231, 1966.PubMedCrossRefGoogle Scholar
  21. 21.
    Sourander P. and Olsson Y. Peripheral neuropathy in globoid cell leucodystrophy(Morbus Krabbe). Acta neuropath. 11, 69, 1968.PubMedCrossRefGoogle Scholar
  22. 22.
    Suzuki K. Ganglioside patterns of normal and pathological brains. In Inborn disorders of sphingolipid metabolism, Aronson S.M. and Volk B.V.(eds.), Oxford, Pergamon Press Ltd. 1967, p. 187.Google Scholar
  23. 23.
    Suzuki K. and Suzuki Y. Globoid cell leucodystrophy (Krabbe’s disease): Deficiency of galactocerebroside ß-galactosidase. Proc.Nat.Acad.Sci. USA 66, 302, 1970.PubMedCrossRefGoogle Scholar
  24. 24.
    Svennerholm L. The determination of hexosamines with special reference to nervous tissue. Acta Soc. Med. Ups. 61, 287, 1956.Google Scholar
  25. 25.
    Svennerholm L. Some aspects of the biochemical changes in leucodystrophy. In Brain lipids and lipoproteins and the leukodystrophies, Folch-Pi J. and Bauer H.J.(eds.), Amsterdam, Elsevier Pubi. Co., 1963, p. 104.Google Scholar
  26. 26.
    Svennerholm L. The distribution of lipids in the human nervous system. I - Analytical procedure. Lipids of foetal and newborn brain. J. Neurochem. 11, 839, 1964.PubMedCrossRefGoogle Scholar
  27. 27.
    Svennerholm L. The metabolism of gangliosides in cerebral lipidoses. In Inborn disorders of sphingolipid metabolism, Aronson S.M. and Volk B.V. (eds.), Oxford, Pergamon Press Ltd. 1967, p. 169.Google Scholar
  28. 28.
    Svennerholm L. New principles for the classification of glycolipidoses. Metabolismo, 5, 61, 1969.Google Scholar
  29. 29.
    Svennerholm L. Ganglioside metabolism. In Comprehensive Biochemistry, vol. 18, Florkin M. and Stotz E.M.(eds.), Amsterdam, Elsevier, 1970, p. 201.Google Scholar
  30. 30.
    Svennerholm L. Isolation of gangliosides. In Methods in Carbohydrate Chemistry, vol. 6, Whistler R.L. and Wolfrom M.L. New York, Academic Press, in pressGoogle Scholar
  31. 31.
    Svennerholm L. and Ställberg-Stenhagen S. Changes in the fatty acid composition of cerebrosides and sulfatides of human nervous tissue with age, J. Lipid Res., 9, 215, 1968.PubMedGoogle Scholar
  32. 32.
    Svennerholm E. and Svennerholm L. The separation of neutral blood-serum glycolipids by thin-layer chromatography. Biochem. Biophys.Acta 70, 432, 1963.PubMedCrossRefGoogle Scholar
  33. 33.
    Van Hoof F. and Hers H.G. The abnormalities of lysosomal enzymes in mucopolysaccharidoses. European J. Biochem. 7, 34, 1968.CrossRefGoogle Scholar
  34. 34.
    Vanier M.T., Holm M., Oilman R. and Svennerholm L. Developmental profiles of gangliosides in human and rat brain. J. Neurochem. 18, 581, 1971.PubMedCrossRefGoogle Scholar
  35. 35.
    Yu R.K. and Ledeen R.W. Gas-liquid chromatographic assay of lipid-bound sialic acids: measurement of gangliosides of brain in several species. J. Lipid Res. 11, 506, 1970.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • Lars Svennerholm
    • 1
  • Marie-Thérèse Vanier
    • 2
  1. 1.Department of Neurochemistry, Psychiatric Research CentreUniversity of GöteborgGöteborgSweden
  2. 2.Hôpital Sainte-EugénieLyonFrance

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