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

Brain Dev. 1979;1(2):83-6. doi: 10.1016/s0387-7604(79)80014-5.

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.

MeSH terms

  • Adult
  • Fibroblasts / enzymology
  • Gangliosidoses / enzymology*
  • Genetic Complementation Test
  • Humans
  • Hybrid Cells / enzymology*
  • Neuraminidase / metabolism
  • beta-Galactosidase / metabolism

Substances

  • Neuraminidase
  • beta-Galactosidase