Sandhoff disease in a golden retriever dog

J Inherit Metab Dis. 2002 Aug;25(4):319-20. doi: 10.1023/a:1016562626961.

Abstract

A golden retriever dog is described with total hexosaminidase deficiency and raised GM2-ganglioside in CSF. The animal represents a model for human Sandhoff disease.

Publication types

  • Case Reports

MeSH terms

  • Animals
  • Behavior, Animal
  • Dog Diseases / genetics*
  • Dogs
  • Lysosomes / enzymology
  • Male
  • Nervous System Diseases / etiology
  • Nervous System Diseases / physiopathology
  • Sandhoff Disease / genetics
  • Sandhoff Disease / psychology
  • Sandhoff Disease / veterinary*
  • beta-N-Acetylhexosaminidases / cerebrospinal fluid
  • beta-N-Acetylhexosaminidases / deficiency

Substances

  • beta-N-Acetylhexosaminidases