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Large Alterations in Ganglioside and Neutral Glycosphingolipid Patterns in Brains from Cases with Infantile Neuronal Ceroid Lipofuscinosis/Polyunsaturated Fatty Acid Lipidosis


Address correspondence and reprint requests to Dr. L. Svennerholm at Department of Psychiatry and Neurochemistry, Goteborg University, St. Jörgen's Hospital, S-422 03 Hisings Backa, Sweden.


Lipid composition was studied on cerebral tissue from nine children who had died of a progressive encepha-lopathy called the infantile form of neuronal ceroid lipofus-cinosis (INCL) or polyunsaturated fatty acid lipidosis (PFAL). In the terminal stage of the disease, the concentrations of all lipid classes were found to be significantly reduced in the cerebral and cerebellar cortex and white matter. The concentration of gangliosides of the cerebral cortex was 15% and that of cerebrosides (galactosylceramide) in white matter 0.2–5% of the normal values for the children's ages. The reduction of gangliosides mainly affected those of the gangliotetraose series, particularly GDI a. The fatty acids of the linolenic acid series were strongly reduced in ethanolamine and serine phosphoglycerides. A very large increase up to 100-fold of oligoglycosphingolipids of the globo series and two fucose-containing lipids of the neo-lacto series was found in the forebrain of the three advanced cases examined. The brain tissue also contained very high concentrations of mono-, d -, and trisialogangliosides of the lacto and neolacto series, gangliosides with type 1 chain, dominating. The structures of the gangliosides were tentatively identified by gas chromatography-mass spectrometry and monoclonal antibodies with carefully determined epitope specificity. The gangliosides and neutral glycosphingolipids had very similar fatty acid composition, consisting of about 40% stearic acid and 40% C24-acids.