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GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog
Moeko Kohyama1, Akira Yabuki1, Yasuaki Kawasaki1
1From the Laboratories of Clinical Pathology (M.K., A.Y., M.M.R., O.Y.), Behavioral Physiology and Ecology (Y.Ka.), Veterinary Histopathology (H.K., N.Miy.), and Diagnostic Imaging (N.Miu.) of the Joint Faculty of Veterinary Medicine, Kagoshima University, Kagoshima, Japan; Kitano Animal Hospital, Izumi, Japan (Y.Ki.); and Minamata Animal Hospital, Minamata, Japan (T.O.).
Abstract:
GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive, neurodegenerative lysosomal storage disease caused by simultaneous deficiencies of acid β-hexosaminidases A and B. Canine SD has so far been identified only in two purebreeds. In this article, we present the case of a 10 mo old, male dog of mixed breed that developed progressive neurological signs including ataxia, postural deficit, and visual deficits and finally died at the age of 21 mo. The dog was diagnosed with SD on the basis of the results of biochemical and histopathological analyses. This is the third report of canine SD and the first time it has been identified in a mixed breed.
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