Neuronal-visceral GM1 gangliosidosis in Portuguese water dogs.
Neuronal-visceral GM1 gangliosidosis in Portuguese water dogs.
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葡萄牙水犬的神经元内脏 GM1 神经节苷脂沉积症。
DOI：
10.1111/j.1939-1676.1989.tb00320.x
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发表时间：
1989
影响因子：
2.6
通讯作者：
Giger,U
中科院分区：
文献类型：
--
作者：
Shell,LG;Potthoff,AI;Carithers,R;Katherman,A;Saunders,GK;Wood,PA;Giger,U
一窝七只葡萄牙水犬 (PWD) 中的三只雌性兄弟姐妹在 5 个月大时表现出共济失调和/或跛行的临床症状。小脑功能障碍（意向性震颤、共济失调、宽基站立、辨距困难和/或眼球震颤）和轻度肢体无力的症状迅速出现。血象（三只狗）、血液化学特征（两只狗）、尿液分析（两只狗）、脑电图（两只狗）以及四肢或骨盆（三只狗）、椎骨（两只狗）和头骨（一只狗）的X光检查结果均无异常，除了一只狗的绝对淋巴细胞增多之外。所有三只狗的常规脑脊液（CSF）分析均正常。然而，在测量的一只狗中，脑脊液肌酸激酶浓度升高。所有三只狗都存在粘多糖尿。由于临床症状进展迅速且预后不良，三只狗在 6 至 7 个月大时均被安乐死。组织病理学和电子显微镜研究显示神经元细胞质内含物、空泡肝细胞和空泡肾小管上皮细胞，符合贮积病的诊断。与正常犬相比，白细胞、血清和脑匀浆中的β-半乳糖苷酶活性均降低，储存产物经鉴定为GM，神经节苷脂，证实GM，神经节苷脂沉积症。 （兽医内科杂志 1989 年；3：1-7）
Three female siblings in a litter of seven Portuguese Water dogs (PWDs) showed clinical signs of ataxia and/or lameness at 5 months of age. Signs of cerebellar dysfunction (intention tremors, ataxia, wide‐based stance, dysmetria, and/or nystagmus) and mild limb weakness developed rapidly. Results of hemograms (three dogs), blood chemistry profiles (two dogs), urinalyses (two dogs), electroencephalograms (two dogs), and radiographs of the limbs or pelvis (three dogs), vertebrae (two dogs), and skull (one dog) were unremarkable except for an absolute lymphocytosis in one dog. Routine cerebrospinal fluid (CSF) analyses were normal in all three dogs. However, the CSF creatine kinase concentration was elevated in the one dog in which it was measured. Mucopolysacchariduria was present in all three dogs. Due to the rapid progression of clinical signs and a poor prognosis, all three dogs were euthanatized between 6 and 7 months of age. Histopathologic and electron microscopic studies showed neuronal cytoplasmic inclusions, vacuolated hepatocytes, and vacuolated renal tubular epithelial cells, compatible with the diagnosis of a storage disease. Beta‐galactosidase activities in leukocytes, serum, and brain homogenates were reduced when compared with that in normal dogs and the stored product was identified as GM, ganglioside, confirming GM, gangliosidosis. (Journal of Veterinary Internal Medicine 1989; 3:1–7)
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