Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat
Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat
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DOI：
10.1016/j.jfms.2006.11.003
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发表时间：
2007-06-01
影响因子：
1.7
通讯作者：
Orima, Hiromitsu
中科院分区：
文献类型：
--
作者：
Hasegawa, Daisuke;Yamato, Osamu;Orima, Hiromitsu
本病例报告记录了患有 GM2 神经节苷脂沉积症变异 0 的日本家猫的两只同窝小猫的临床和分子发现。分析包括详细的物理、磁共振成像、生化、病理和基因检查。起初，这些同窝小猫在大约 2 个月大时表现出典型的小脑症状。大约2个月后，它们逐渐出现其他神经系统症状，随后在大约7个月大时死亡。死亡前的磁共振成像显示脑室系统扩大，内囊T1高信号，全脑白质T2高信号。组织学结果表明存在一种溶酶体贮积病。生化研究表明，这些小猫受到 GM2 神经节苷脂沉积症变体 0 的影响，DNA 检测最终证明这些动物的突变是纯合的，作者在日本家猫的另一个家族中发现了这种突变。本病例的研究结果提供了有关日本家猫 GM2 神经节苷脂沉积症变异 0 的有用信息。
This case report documents clinical and molecular findings in two littermate kittens of the Japanese domestic cat with GM2 gangliosidosis variant 0. Analysis included detailed physical, magnetic resonance imaging, biochemical, pathological and genetic examinations. At first, these littermate kittens showed typical cerebellar signs at approximately 2 months of age. About 2 months later, they progressively showed other neurological signs and subsequently died at about 7 months of age. Magnetic resonance imaging just before the death showed an enlarged ventricular system, T1 hyperintensity in the internal capsule, and T2 hyperintensity in the white matter of the whole brain. Histological findings suggested a type of lysosomal storage disease. Biochemical studies demonstrated that the kittens were affected with GM2 gangliosidosis variant 0, and a DNA assay finally demonstrated that these animals were homozygous for the mutation, which the authors had identified in a different family of the Japanese domestic cat. The findings in the present cases provide useful information about GM2 gangliosidosis variant 0 in Japanese domestic cats.