{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T04:42:46Z","timestamp":1789188166626,"version":"build-2803163510"},"reference-count":10,"publisher":"American Animal Hospital Association","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:title\/>\n                  <jats:p>GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive, neurodegenerative lysosomal storage disease caused by simultaneous deficiencies of acid \u03b2-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.<\/jats:p>","DOI":"10.5326\/jaaha-ms-6258","type":"journal-article","created":{"date-parts":[[2015,11,4]],"date-time":"2015-11-04T14:49:10Z","timestamp":1446648550000},"page":"396-400","source":"Crossref","is-referenced-by-count":5,"title":["GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog"],"prefix":"10.5326","volume":"51","author":[{"given":"Moeko","family":"Kohyama","sequence":"first","affiliation":[{"name":"From 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Yabuki","sequence":"additional","affiliation":[{"name":"From 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuaki","family":"Kawasaki","sequence":"additional","affiliation":[{"name":"From 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Kawaguchi","sequence":"additional","affiliation":[{"name":"From 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Miura","sequence":"additional","affiliation":[{"name":"From 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiaki","family":"Kitano","sequence":"additional","affiliation":[{"name":"From 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshinori","family":"Onitsuka","sequence":"additional","affiliation":[{"name":"From 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Mahbubur","family":"Rahman","sequence":"additional","affiliation":[{"name":"From 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriaki","family":"Miyoshi","sequence":"additional","affiliation":[{"name":"From 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Yamato","sequence":"additional","affiliation":[{"name":"From 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3280","reference":[{"key":"i1547-3317-51-6-396-b01","series-title":", eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed","first-page":"3827","article-title":"The GM2 gangliosidosis","author":"Gravel\n              RA,","year":"2001","unstructured":"Gravel\n              RA, \n            \n              Kaback\n              MM, \n            \n              Proia\n              RL, \n            et al\n          . The GM2 gangliosidosis. In: SciverCR, BeaudetAL, SlyWS, et al., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001:3827\u20133876."},{"key":"i1547-3317-51-6-396-b02","series-title":"Clinical Biochemistry of Domestic Animals. 6th ed","first-page":"731","article-title":"Lysosomal storage diseases","author":"Haskins\n              M,","year":"2008","unstructured":"Haskins\n              M, \n            \n              Giger\n              U.\n            \n          \n          Lysosomal storage diseases. In: KanekoJJ, HarveyJW, BrussML, eds. Clinical Biochemistry of Domestic Animals. 6th ed. Burlington: Academic Press, 2008:731\u2013750."},{"issue":"1","key":"i1547-3317-51-6-396-b03","series-title":"J Vet Diagn Invest","first-page":"39","article-title":"Laboratory diagnosis of canine GM2-gangliosidosis using blood and cerebrospinal fluid","volume":"16","author":"Yamato\n              O,","year":"2004","unstructured":"Yamato\n              O, \n            \n              Satoh\n              H, \n            \n              Matsuki\n              N, \n            et al\n          . Laboratory diagnosis of canine GM2-gangliosidosis using blood and cerebrospinal fluid. J Vet Diagn Invest2004;16(1):39\u201344."},{"issue":"4","key":"i1547-3317-51-6-396-b04","series-title":"J Inherit Metab Dis","first-page":"319","article-title":"Sandhoff disease in a golden retriever dog","volume":"25","author":"Yamato\n              O,","year":"2002","unstructured":"Yamato\n              O, \n            \n              Matsuki\n              N, \n            \n              Satoh\n              H, \n            et al\n          . Sandhoff disease in a golden retriever dog. J Inherit Metab Dis2002;25(4):319\u2013320."},{"issue":"5","key":"i1547-3317-51-6-396-b05","series-title":"J Vet Intern Med","first-page":"1013","article-title":"GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of Toy Poodles","volume":"24","author":"Tamura\n              S,","year":"2010","unstructured":"Tamura\n              S, \n            \n              Tamura\n              Y, \n            \n              Uchida\n              K, \n            et al\n          . GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of Toy Poodles. J Vet Intern Med2010;24(5):1013\u201319."},{"issue":"3","key":"i1547-3317-51-6-396-b06","series-title":"Vet J","first-page":"412","article-title":"A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease)","volume":"194","author":"Rahman\n              MM,","year":"2012","unstructured":"Rahman\n              MM, \n            \n              Chang\n              HS, \n            \n              Mizukami\n              K, \n            et al\n          . A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). Vet J2012;194(3):412\u20136."},{"issue":"17","key":"i1547-3317-51-6-396-b07","series-title":"Vet Rec","first-page":"493","article-title":"GM1 gangliosidosis in shiba dogs","volume":"146","author":"Yamato\n              O,","year":"2000","unstructured":"Yamato\n              O, \n            \n              Ochiai\n              K, \n            \n              Masuoka\n              E, \n            et al\n          . GM1 gangliosidosis in shiba dogs. Vet Rec2000;146(17):493\u20136."},{"issue":"3","key":"i1547-3317-51-6-396-b08","series-title":"Can Vet J","first-page":"275","article-title":"Magnetic resonance imaging of GM2-gangliosidosis in a Golden Retriever","volume":"46","author":"Matsuki\n              N,","year":"2005","unstructured":"Matsuki\n              N, \n            \n              Yamato\n              O, \n            \n              Kusuda\n              M, \n            et al\n          . Magnetic resonance imaging of GM2-gangliosidosis in a Golden Retriever. Can Vet J2005;46(3):275\u20138."},{"issue":"8","key":"i1547-3317-51-6-396-b09","series-title":"J Vet Med Sci","first-page":"813","article-title":"Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population","volume":"70","author":"Yamato\n              O,","year":"2008","unstructured":"Yamato\n              O, \n            \n              Hayashi\n              D, \n            \n              Satoh\n              H, \n            et al\n          . Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population. J Vet Med Sci2008;70(8):813\u20138."},{"key":"i1547-3317-51-6-396-b10","series-title":"OMIA \u2013 Online Mendelian Inheritance in Animals","year":"2015","unstructured":"OMIA \u2013 Online Mendelian Inheritance in Animals. 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