Inheritance: Autosomal Recessive
Mutation(s): 19 bp duplication (dup TCCCAGACTTGCCCCAGGA)
Affected Gene(s): GLB1
Affected Breed(s): Alaskan Husky

Common Symptoms

GM1 gangliosidosis is an inherited lysosomal storage disorder affecting dogs. Affected dogs typically present with symptoms of neurologic disease around 1 to 3 months of age. Dogs with GM1 gangliosidosis have insufficient activity of the enzyme beta-galactosidase, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of break down products such as GM1 in cells, especially cells of the brain and nervous system. Symptoms include nystagmus, difficulties walking, loss of balance, head tremors and weight loss. Affected dogs usually have abnormal bone growth and proportional dwarfism. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die by one year of age.

References

  • Kreutzer R, Kreutzer M, Sewell AC, Techangamsuawn S, Leeb T, Baumgartner W. Impact of beta-galactosidase mutations on the expression of the canine lysosomal multienzyme complex. Biochim Biophys Acta. 2009 Oct;1792(10):982-7. [PubMed: 19607915]
  • Kreutzer R, Leeb T, Müller G, Moritz A, Baumgärtner W. A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics. 2005 Aug; 170(4):1857-61. [PubMed: 15944348]
  • Muller G, Alldinger S, Moritz A, Zurbriggen A, Kirchhof N, Sewell A, Baumgartner W. GM-1-gangliosidosis in Alaskan Huskies: Clinical and pathological findings. Vet Pathol. 2001 May;38(3):281-90. [PubMed: 11355658]