Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal acid beta-galactosidase: a canine model of human GM1 gangliosidosis.
Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal acid beta-galactosidase: a canine model of human GM1 gangliosidosis.
复制标题
溶酶体酸性β-半乳糖苷酶缺乏的柴犬的临床和临床病理特征：人GM1神经节苷脂沉积症的犬模型。
DOI：
--
复制
发表时间：
2003
影响因子：
1.2
通讯作者：
Y. Maede
中科院分区：
文献类型：
--
作者：
O. Yamato;Y. Masuoka;M. Yonemura;A. Hatakeyama;H. Satoh;A. Kobayashi;Masanari Nakayama;Tomoya Asano;Toru Shoda;M. Yamasaki;K. Ochiai;T. Umemura;Y. Maede
本研究旨在确定患有GM 1神经节苷脂沉积症的Shiba犬的临床和临床病理特征，该疾病是由于溶酶体酸性β-半乳糖苷酶活性的常染色体Reconymous遗传性缺陷所致。对10只患有GM 1神经节苷脂沉积症的纯合子Shiba犬的临床和临床病理特征进行了研究。发病时的年龄为5至6个月，犬表现出进行性神经系统体征，包括平衡丧失、间歇性跛行、共济失调、辨距障碍和头部意向性震颤。由于共济失调和四肢痉挛的进展，犬在10月龄时无法站立。在9至12个月时观察到角膜混浊、视力缺陷、全身性肌肉痉挛、情绪障碍和嗜睡倾向。这些犬从13个月大开始变得昏昏欲睡。生存期14 ~ 15个月。作为临床病理学特征，在犬的整个生命周期内，在外周血中观察到具有异常大空泡的淋巴细胞（占总淋巴细胞的30 - 50%）。该动物模型的临床和临床病理学特征不仅可用于开发和测试潜在的治疗方法，还可用于兽医诊所中受影响的纯合子Shiba犬的诊断。
The present study was conducted to determine the clinical and clinico-pathologic characteristics of Shiba dogs with GM1 gangliosidosis, which is due to an autosomal recessively inherited deficiency of lysosomal acid beta-galactosidase activity. Clinical and clinico-pathological features were investigated in 10 homozygous Shiba dogs with GM1 gangliosidosis. The age at onset was 5 to 6 months and the dogs manifested progressive neurologic signs including loss of balance, intermittent lameness, ataxia, dysmetria and intention tremor of the head. The dogs were unable to stand by 10 months of age due to a progression of ataxia and spasticity in all limbs. Corneal clouding, a visual defect, generalized muscle rigospasticity, emotional disorder and a tendency to be lethargic were observed at 9 to 12 months. The dogs became lethargic from 13 months of age. The survival period seemed to be 14 to 15 months. As a clinico-pathologic feature, lymphocytes with abnormally large vacuoles were observed in peripheral blood (30 to 50% of total lymphocytes) through the lifetime of the dogs. The clinical and clinico-pathologic characteristics of this animal model are useful for not only the development and testing of potential methods of therapy, but also the diagnosis of affected homozygous Shiba dogs in veterinary clinics.
葡萄牙水犬的神经元内脏 GM1 神经节苷脂沉积症。
影响因子：
2.6
作者：
Shell,LG;Potthoff,AI;Carithers,R;Katherman,A;Saunders,GK;Wood,PA;Giger,U
通讯作者：
Giger,U
犬GM1-神经节苷脂沉积症。
DOI：
--
发表时间：
1992
期刊：
The American journal of pathology
影响因子：
--
作者：
Alroy,J;Orgad,U;DeGasperi,R;Richard,R;Warren,CD;Knowles,K;Thalhammer,JG;Raghavan,SS
通讯作者：
Raghavan,SS