GM1-gangliosidosis in a cross-bred dog confirmed by detection of GM1-ganglioside using electrospray ionisation-tandem mass spectrometry

Acta Neuropathol. 2000 Oct;100(4):409-14. doi: 10.1007/s004010000187.

Abstract

The post-mortem diagnosis of lysosomal storage diseases can be confounded by the unavailability of suitable material. Here we report the diagnosis of GM1-gangliosidosis in a cross-bred dog, from which only formalin-fixed brain was available, by a combination of electron microscopy and the detection of elevated levels of GM1-ganglioside within the tissue using the novel technique of electrospray ionisation tandem mass spectrometry. Electron microscopic examination of ultrathin sections of resin-embedded tissue revealed cytoplasmic inclusions (membranous cytoplasmic and zebra bodies) in brain stem and cerebellar neurons that were characteristic of a gangliosidosis. Glycolipids were extracted from the fixed tissue and analysed by tandem mass spectrometry. Two major ions were detected, which corresponded to GM1 (d18:1-C18:0) and Gm1 (d20:1-C18:0). Their identity was confirmed by comparison of their fragmentation patterns with those of authentic standards. The concentration of GM1 was approximately sixfold higher on a wet weight basis than in the brain of a normal control dog, confirming the diagnosis of GM1-gangliosidosis.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / pathology*
  • Brain Chemistry*
  • Carbohydrate Conformation
  • Carbohydrate Sequence
  • Cattle
  • Dog Diseases / genetics*
  • Dog Diseases / metabolism
  • Dog Diseases / pathology
  • Dogs
  • G(M1) Ganglioside / analysis*
  • Gangliosidosis, GM1 / genetics
  • Gangliosidosis, GM1 / metabolism
  • Gangliosidosis, GM1 / pathology
  • Gangliosidosis, GM1 / veterinary*
  • Glycolipids / analysis
  • Male
  • Microscopy, Electron
  • Molecular Sequence Data
  • Spectrometry, Mass, Electrospray Ionization*

Substances

  • Glycolipids
  • G(M1) Ganglioside