GM1-gangliosidosis in Alaskan huskies:: Clinical and pathologic findings
GM1-gangliosidosis in Alaskan huskies:: Clinical and pathologic findings
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DOI：
10.1354/vp.38-3-281
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发表时间：
2001-05-01
影响因子：
2.4
通讯作者：
Baumgärtner, W
中科院分区：
文献类型：
--
作者：
Müller, G;Alldinger, S;Baumgärtner, W
三只阿拉斯加哈士奇，两只雌性和一只雄性，被诊断为GM(1)-神经节脂质病。临床上,病变;动物在5-7个月大时表现出比例侏儒症和进行性神经损伤，伴有小脑功能障碍的迹象。在5.5个月大的雄性狗的x线片显示，骨骼病变的特征是椎体骨骺内软骨成骨迟缓。中枢神经系统（CNS）的组织学检查显示，由于排列紧密的空泡取代了尼氏物质，大多数神经元增大，胞浆呈泡沫状至颗粒状。石蜡包埋切片的空泡用Luxol快蓝法和Grocott法染色呈阳性，冷冻切片的空泡呈周期性酸-希夫阳性。自主神经节神经元内也出现泡沫泡化现象。脑外细胞如巨噬细胞和外周淋巴细胞也表现出泡沫状细胞质和空泡化。在患病动物的中枢神经系统中，与年龄和性别匹配的对照犬相比，轻度脱髓鞘和轴突变性伴有显著的灰质星形胶质增生（P < 0.05）。与对照组相比，发病动物的灰质和白质中少突胶质细胞的损失也显著（P < 0.05）。在超微结构上，神经元存储材料由许多圆形到同心螺旋的层状膜或平行排列的膜堆组成。阿拉斯加哈士奇的GM(1)神经节苷脂病类似于其他犬种的β -半乳糖苷酶缺乏症，这些中枢神经系统疾病可能是神经元储存和髓磷脂加工紊乱的结果。
Three Alaskan Huskies, two females and one male, were diagnosed with GM(1)-gangliosidosis. Clinically, diseased;animals exhibited proportional dwarfism and developed progressive neurologic impairment with signs of cerebellar dysfunction at the age of 5-7 months. Skeletal lesions characterized by retarded enchondral ossification of vertebral epiphyses were revealed by radiographs of the male dog at 5.5 months of age. Histologic examination of the central nervous system (CNS) revealed that most neurons were enlarged with a foamy to granular cytoplasm due to tightly packed vacuoles that displaced the Nissl substance. Vacuoles in paraffin-embedded sections stained positively with Luxol fast blue and Grocott's method, and in frozen sections vacuoles were periodic acid-Schiff positive. Foamy vacuolation also occurred within neurons of the autonomic ganglia. Extracerebral cells such as macrophages and peripheral lymphocytes also displayed foamy cytoplasm and vacuolation. In the CNS of diseased animals, a mild demyelination and axonal degeneration was accompanied by a significant astrogliosis (P < 0.05) in the gray matter as compared with age- and sex-matched control dogs. There was also a significant loss (P < 0.05) of oligodendrocytes in the gray and white matter of affected animals as compared with controls. Ultrastructurally, the neuronal storage material consisted of numerous circular to concentric whorls of lamellated membranes or stacks of membranes in parallel arrays. GM(1)-gangliosidosis in Alaskan Huskies resembles beta -galactosidase deficiency in other canine breeds, and these CNS disorders may be a consequence of neuronal storage and disturbed myelin processing.