ISSN:
1471-4159
Source:
Blackwell Publishing Journal Backfiles 1879-2005
Topics:
Medicine
Notes:
—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 GM2-gangliosidosis of a late infantile type (GM2-LI). Analysis of gangliosides showed a 3·5-fold increase of total gangliosides in the GM2-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 GM2-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 GM2-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 GM2-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 GM2-ganglioside like that in Tay-Sachs disease.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1111/j.1471-4159.1970.tb02220.x
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