Cat Gangliosidosis 1 (GM1)
Cat gangliosidosis 1 (GM1) is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the β-galactosidase (GLB1) gene. In general, affected cats manifest neurological signs of progressive motor dysfunctions starting from 4 to 6 months of age and die prematurely at approximately 1 year of age. The carrier frequency is high (16.7%, 38/227) in Korat cats from a number of countries. As one of the large groups of breeds is derived completely, or in part, from Southeast Asian ancestors, GM1 gangliosidosis caused by the same mutation may also occur in those breeds (Oriental Shorthair, Balinese, Havana Brown, Birman, Burmese, Singapura and others). Thus, as c.1448G>C has possibly spread to related pure-breeds around the world, a PCR-based diagnostic test is important for rapid differential diagnosis in cats suspected of having the disease and/or for genotyping to control and prevent the mutation in pure-breeds related to Siamese and Korat cats.
Uddin, M.M., Tanimoto, T., Yabuki, A., Kotani, T., Kuwamura, M., Chang, H.-S., and Yamato, O. (2012). Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s. J. Feline Med. Surg. 14, 900–902.