Ganglioside storage

There is no question that there is ganglioside storage in TSD. In addition, recent analyses have shown that gangliosides are also increased in the late-infantile amaurotic family idiocy. Variable findings have been reported for the juvenile form, and increased gangliosides have not yet been found in the adult variety. 

Since ganglioside storage is observed in gargoylism (Pfaundler-Hurler syndrome), this disease will be considered under the heading of gangliosidoses, although the complex disturbance of lipid and mucopolysaccharide metabolism in gargoylism is still poorly understood. 

In contrast, therefore, to Tay-Sachs disease, to some cases of late-infantile amaurotic family idiocy and to one case of congenital amaurotic family idiocy, there is no evidence of storage of a specific ganglioside in JAFI. The solution to yet unanswered questions may come from analyses of particularly involved areas instead of unselected parts, since, in contrast to Tay-Sachs disease, the biochemical lesion responsible for the development of JAFI, does not result in ganglioside storage which is as impressive as that observed in Tay-Sachs disease. 

On the other hand, the catabolism of the other class of sialylated compounds, namely the gangliosides, seems not impaired, as there is no evidence of ganglioside storage. Moreover, the neuraminidase activity towards various ganglioside substrates was normal in the patients fibroblasts. 

Stem, J., 1972, The induction of ganglioside storage in nervous system cultures. Lab. Invest. 25 509. 

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