Laboratory diagnosis of canine GM2-gangliosidosis using blood and cerebrospinal fluid

J Vet Diagn Invest. 2004 Jan;16(1):39-44. doi: 10.1177/104063870401600107.


In the present study, laboratory techniques were used to diagnose canine GM2-gangliosidosis using blood and cerebrospinal fluid (CSF) that can be collected noninvasively from living individuals. Lysosomal acid beta-hexosaminidase (Hex) was measured spectrofluorometrically using 4-methylumbelliferyl N-acetyl-beta-D-glucosaminide and 4-methylumbelliferyl 7-(6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside) as substrates. Main isoenzymes A and B of Hex in leukocytes were also analyzed using cellulose acetate membrane electrophoresis. GM2-ganglioside in CSF was detected and determined quantitatively by using thin-layer chromatography/enzyme-immunostaining method with anti-GM2-ganglioside antibody. In normal dogs, Hex activities could be determined in leukocytes, serum, and CSF and the total activities were markedly reduced in all the enzyme sources in a dog with Sandhoff disease. Electrophoresis of a leukocyte lysate from a normal dog showed that the Hex A and Hex B were not separated distinctively with formation of a broad band, whereas there were no bands in electrophoresis of a lysate from a dog with Sandhoff disease, showing a deficiency in the total enzyme activity. GM2-ganglioside could be detected and determined quantitatively in as little as 100 microl of canine CSE GM2-ganglioside in CSF in a dog with Sandhoff disease increased to 46 times the normal level. In conclusion, the methods in the present study are useful for diagnosis of canine GM2-gangliosidosis. These techniques enable definitive and early diagnosis of canine GM2-gangliosidosis even if tissues and organs cannot be obtained.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromatography, Thin Layer / veterinary
  • Dog Diseases / blood*
  • Dog Diseases / cerebrospinal fluid*
  • Dog Diseases / enzymology
  • Dogs
  • Electrophoresis, Cellulose Acetate / veterinary
  • G(M2) Ganglioside / cerebrospinal fluid
  • Gangliosidoses, GM2 / blood
  • Gangliosidoses, GM2 / cerebrospinal fluid
  • Gangliosidoses, GM2 / enzymology
  • Gangliosidoses, GM2 / veterinary*
  • Hexosaminidase A
  • Hexosaminidase B
  • Isoenzymes / blood
  • Leukocytes / enzymology
  • Male
  • Sandhoff Disease / diagnosis
  • Sandhoff Disease / enzymology
  • Sandhoff Disease / veterinary
  • beta-N-Acetylhexosaminidases / blood
  • beta-N-Acetylhexosaminidases / cerebrospinal fluid


  • Isoenzymes
  • G(M2) Ganglioside
  • Hexosaminidase A
  • Hexosaminidase B
  • beta-N-Acetylhexosaminidases