Adult type GMl-gangliosidosis: a complementation study on somatic cell hybrids.
Two adult siblings with progressive pyramidal and extrapyramidal lesions, and generalized muscle atrophy had a profound deficiency of beta-galactosidase in all the cells and body fluids examined. Neuraminidase activity was normal in fibroblasts. The fused fibroblasts of infantile GMl-gangliosidosis and each of these adult patients had beta-galactosidase activity as expected for the average value in a mixture of equal numbers of parental cells. However, there was a remarkable increase in the activity of beta-galactosidase when the cells from each of these cases were fused with those from the beta-galactosidase-deficient adult with cherry-red spots, cerebellar ataxia, myoclonus and neuraminidase deficiency in fibroblasts. It was concluded that the two siblings represent a new genetic variant (adult type) of GMl-gangliosidosis.
D000328:Adult; D005347:Fibroblasts / Q000201:enzymology; D005733:Gangliosidoses / Q000201:enzymology*; D005816:Genetic Complementation Test; D006801:Humans; D006822:Hybrid Cells / Q000201:enzymology*; D009439:Neuraminidase / Q000378:metabolism; D001616:beta-Galactosidase / Q000378:metabolism
D009439:Neuraminidase; D001616:beta-Galactosidase