GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog
GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog
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DOI：
10.5326/jaaha-ms-6258
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发表时间：
2015-11-01
影响因子：
1.3
通讯作者：
Yamato, Osamu
中科院分区：
文献类型：
--
作者：
Kohyama, Moeko;Yabuki, Akira;Yamato, Osamu
GM2神经节脂质增多症变异0 （Sandhoff病，SD）是一种致命的、进行性的神经退行性溶酶体贮积症，由酸性β -六糖氨酸酶a和b的同时缺乏引起。在这篇文章中，我们报告了一只10月龄的雄性杂交犬，它出现了进行性神经症状，包括共济失调、姿势缺陷和视觉缺陷，最终在21月龄时死亡。根据生化和组织病理学分析结果，该犬被诊断为SD。这是第三次报道犬SD，也是第一次在混合品种中发现。
GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive, neurodegenerative lysosomal storage disease caused by simultaneous deficiencies of acid beta-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.