Brain Dev. 1979;1(2):83-6.

Adult type GMl-gangliosidosis: a complementation study on somatic cell hybrids.

Suzuki Y, Furukawa T, Hoogeveen A, Verheijen F, Galjaard H.

Abstract

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.

PMID:: 121869; [PubMed - indexed for MEDLINE]

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Adult type GMl-gangliosidosis: a complementation study on somatic cell hybrids.

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