Gangliosidosis

From Cow

Gangliosidosis is a rare autosomal recessive genetic disease of inbred Friesian dairy cows worldwide.

GM1-gangliosidosis is seen in inbred Friesian calves and is due to a generalised metabolic deficiency in beta-galactosidase and beta-glucuronidase[1].

Clinical signs become evident during the first week of life and include visual disturbances[2], depression, swaying of the hindquarters, reluctance to move, and stiffness. Death occurs in 6 – 8 months[3]. This disease is relentlessly progressive, characterised by lysosomal hypertrophy with ultrastructural inclusions occur in neurons, endothelial and other cells.

Clinical signs similar to gangliosidosis has been reported in cattle ingesting Solanum fastigiatum horse nettles[4].

Definitive diagnosis requires biochemical identification of the storage product and enzyme deficiency[5].

Because most affected cattle deteriorate over time, euthanasia is usually required.

References

  1. Hieber V et al (1980) Selective noncompetitive assimilation of bovine testicular beta-galactosidase and bovine liver beta-glucuronidase by generalized gangliosidosis fibroblasts. J Clin Invest 65(4):879-884
  2. Sheahan BJ et al (1978) Ocular pathology of bovine GM1 gangliosidosis. Acta Neuropathol 41(2):91-95
  3. Merck Vet Manual
  4. Riet-Correa F et al (1983) Intoxication by Solanum fastigiatum var. fastigiatum as a cause of cerebellar degeneration in cattle. Cornell Vet 73(3):240-256
  5. Baker HJ et al (1979) The gangliosidoses: comparative features and research applications. Vet Pathol 16(6):635-649