Niemann-Pick disease: a genetic model in Siamese cats

Science. 1980 Jun 27;208(4451):1471-3. doi: 10.1126/science.7189903.

Abstract

Three Siamese cats were found to have a progressive neurological disease that became obvious when they were 4 to 5 months of age. Their brains contained an excess of GM2 and GM3 gangliosides, and their livers a nine- to tenfold excess of sphingomyelin and cholesterol. A total deficiency of lysosomal (pH 5.0) sphingomyelinase was found in the leukocytes, liver, and brain of the cats, although the activity of the microsomal (pH 7.4, magnesium-dependent) sphingomyelinase was normal in brain. These cats appear to have a genetic disease identical to Niemann-Pick disease type A.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Brain / enzymology
  • Brain Chemistry
  • Cat Diseases / enzymology
  • Cat Diseases / genetics*
  • Cats
  • Disease Models, Animal*
  • Gangliosides / analysis
  • Humans
  • Kinetics
  • Liver / analysis
  • Niemann-Pick Diseases / enzymology
  • Niemann-Pick Diseases / genetics*
  • Phospholipids / analysis
  • Sphingomyelin Phosphodiesterase / analysis

Substances

  • Gangliosides
  • Phospholipids
  • Sphingomyelin Phosphodiesterase