Cat Gangliosidosis 2 (GM2) is a fatal, progressive neuronopathic lysosomal storage disease resulting from a deficiency of b-N-acetylhexosaminidase activity. GM2 gangliosidosis occurs with varying degrees of severity in cats.
Kittens show typical cerebellar signs at approximately 2 months of age. About 2 months later, they progressively show other neurological signs and subsequently die at about 7 months of age. Magnetic resonance imaging shows an enlarged ventricular system, T1 hyperintensity in the internal capsule, and T2 hyperintensity in the white matter of the whole brain.
Bradbury, A.M., Morrison, N.E., Hwang, M., Cox, N.R., Baker, H.J., and Martin, D.R. (2009). Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. Mol. Genet. Metab. 97, 53–59.
Hasegawa, D., Yamato, O., Kobayashi, M., Fujita, M., Nakamura, S., Takahashi, K., Satoh, H., Shoda, T., Hayashi, D., Yamasaki, M., et al. (2007). Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat. Journal of Feline Medicine & Surgery 9, 232–237.