GM2 gangliosidosis in a Japanese Spaniel

J. F. Cummings, P. A. Wood, S. U. Walkley, A. de Lahunta, M. E. DeForest

Research output: Contribution to journalArticlepeer-review

52 Scopus citations


A storage disease in a 2-year-old Japanese Spaniel resembled a GM2 gangliosidosis previously identified in a now extinct line of German Shorthaired Pointers. Despite a later appearance of signs in the Japanese Spaniel, the distribution, staining, and ultrastructure of the stored material were similar in the two breeds. Golgi studies of cerebral cortical neurons revealed the formation of spiny and aspiny enlargements at the axon hillock region (meganeurites) and the growth of secondary neurites from this region. As in the German Shorthaired Pointer model, there was massive storage of GM2 ganglioside as well as a seemingly paradoxical increase in total β-hexosaminidase activity measured in vitro.

Original languageEnglish (US)
Pages (from-to)247-253
Number of pages7
JournalActa neuropathologica
Issue number3-4
StatePublished - Sep 1985


  • Dog
  • GM Gangliosidosis
  • Meganeurites

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience


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