Polyunsaturated Fatty Acid Lipidosis: A New Nosological Entity

  • Lars Svennerholm
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)


In 1963 Dr Bengt Hagberg saw in the Pediatric Service, University Hospital, Uppsala, a 2-year-old girl who was severely retarded, had no speech or grasping ability, could sit but not stand by herself and had pronounced truncal ataxia. Her reflexes were normal. She had no optic atrophy, but her vision was impaired, and she did not react in a normal manner to optic stimuli. Her EEG showed severe and diffusely spread abnormalities with an irregular delta activity and bilateral synchronous sharp waves of a low amplitude. She then rapidly deteriorated and half a year later she could no longer sit or utter any sound. Soon afterwards she lost the ability even to turn round, and her eye movements became irregular. Fits increased in frequency and intensity. When 2 years 9 months old she was soporous and in a neonatal motoric state with a flexion pattern, no head control and general floppiness. She then remained in a soporous state, quite flaccid and was unable to make any purposeful movements for more than three years and died at the age of 6 years.


White Matter Fatty Acid Composition Cerebral Cortex Fatty Acid Pattern Monoenoic Acid 
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  1. 1.
    Alling, C., Dencker, S.J., Svennerholm, L. and Tichy, J. Serum fatty acid pattern in chronic alcoholics after acute abuse. Acta Med. Scand. 185, 99–105, 1969.PubMedCrossRefGoogle Scholar
  2. 2.
    Breckenridge, W.C., Gombos, G. and Morgan, I.G. The lipid composition of adult rat brain synaptosomal plasma membranes. Biochim. Biophys. Acta 266, 695–707, 1972.CrossRefGoogle Scholar
  3. 3.
    Hagberg, B., Hultquist, G., Ohman, R. and Svennerholm, L. Congenital amaurotic Idiocy. Acta Paediat. Scand. 54, 116–130, 1965.PubMedCrossRefGoogle Scholar
  4. 4.
    Hagberg, B., Sourander, P. and Svennerholm, L. Late infantile progressive encephalopathy with disturbed polyunsaturated metabolism. Acta Paediat. Scand. 57, 495–499, 1968.PubMedCrossRefGoogle Scholar
  5. 5.
    Kristensson, K. and Sourander, P. Occurrence of lipofuscin in inherited metabolic disorders affecting the nervous system. J. Neurol. Neurosurg. Psychiat. 29, 113–118, 1966.CrossRefGoogle Scholar
  6. 6.
    Ohman, R. Subcellular fractionation of ganglioside sialidase from human brain. J. Neurochem. 18, 89–95, 1971.PubMedCrossRefGoogle Scholar
  7. 7.
    Santavuori, P., Haltia, M. and Rapola, J. Infantile type of so-called neuronal ceroid lipifuscinosis. Developm. Med. Child. Neurol. 16, 644–653, 1974.CrossRefGoogle Scholar
  8. 8.
    Svennerholm, L. Ganglioside metabolism. In M. Florkin and E.M. Stotz (eds): Comprehensive Biochemistry, vol. 18, Lipid Metabolism. Amsterdam, Elsevier, 1970, 201–227.Google Scholar
  9. 9.
    Svennerholm, L. and Vanier, M.T. The distribution of lipids in the human nervous system. II Lipid composition of human fetal and infant brain. Brain Res. 47, 457–468, 1972.PubMedCrossRefGoogle Scholar
  10. 10.
    Svennerholm, L. and Vanier, M.T. The distribution of lipids in the human nervous system. III Fatty acid composition of phosphoglycerides of human fetal and infant brain. Brain Res. 50, 341–351, 1973.PubMedCrossRefGoogle Scholar
  11. 11.
    Svennerholm, L. and Vanier, M.T. The distribution of lipids in the human nervous system. IV Fatty acid composition of major sphingolipids of human infant brain. Brain Res. 55, 413–423, 1973.PubMedCrossRefGoogle Scholar
  12. 12.
    Svennerholm, L. and Vanier, M.T. Brain ganglioside in Krabbe disease. In B. W. Volk and S. M. Aronson (eds): Sphingolipids, Spingolipidoses and Allied Disorders, New York, Plenum Press. Adv. Exp. Med. Biol. 119, 499–514, 1972.Google Scholar
  13. 13.
    Tettamanti, G., Morgan, I.G., Gombos, G., Vincendon, G. and Mandel, P. Sub-synaptosomal localization of brain particulate neuraminidase. Brain Res. 47, 515–518, 1972.PubMedCrossRefGoogle Scholar
  14. 14.
    Vanier, M.T. and Svennerholm, L. Chemical Pathology of Krabbe Disease. III Ceramide-hexosides and gangliosides of brain. Acta Paediat. Scand. 64, 641–648, 1975.PubMedCrossRefGoogle Scholar
  15. 15.
    Zeman, W., Donahue, S., Dyken, P. and Green, J. The neuronal ceroid-lipofuscinosis. (Batten-Vogt syndrome). In P. J. Vinken and G.W. Bruyn (eds). Handbook of Clinical Neurology vol. 10. Amsterdam, North-Holland Publ. Co, 1970, 588–679.Google Scholar

Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • Lars Svennerholm
    • 1
  1. 1.Department of Neurochemistry, Psychiatric Research CentreUniversity of GöteborgGöteborgSweden

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