CEREBRAL LIPIDS IN A CASE OF SYSTEMIC G_M2‐GANGLIOSIDOSIS OF A LATE INFANTILE TYPE¹

Abstract

Abstract —Quantitative analyses performed on the lipids of cerebral grey matter from brains of a normal child and a child with Tay‐Sachs (T‐S) disease were compared with such analyses on the brain of a 6‐year‐old, non‐Jewish male with systemic G M2 ‐gangliosidosis of a late infantile type (G M2 ‐LI). Analysis of gangliosides showed a 3·5‐fold increase of total gangliosides in the G M2 ‐LI brain and a six‐fold increase in the T‐S brain, compared to normal brain. Both pathological brains had similar distribution patterns for gangliosides, with the G M2 ‐ganglioside component constituting more than 80 per cent of the total. Lipid components in the T‐S brain were below normal values except for lecithin and cholesterol, while in the G M2 ‐LI brain there were increases in sulphatides, cerebrosides, sphingomyelin and cholesterol. Approximately twice as much ceramide trihexoside was present in the T‐S brain as in the G M2 ‐LI brain, and none could be detected in the normal brain. The clinical, pathological and biochemical data support the conclusion that this case represents a new variant of systemic late‐infantile gangliosidosis in which there is an accumulation of the G M2 ‐ganglioside like that in Tay‐Sachs disease.