Müller G, Alldinger S, Moritz A, Zurbriggen A, Kirchhof N, Sewell A, Baumgärtner W
Institut für Veterinär-Pathologie, Justus-Liebig-Universität Giessen, Germany.
Vet Pathol. 2001 May;38(3):281-90. doi: 10.1354/vp.38-3-281.
Three Alaskan Huskies, two females and one male, were diagnosed with GM1-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. GM1-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.
三只阿拉斯加哈士奇，两雌一雄，被诊断患有GM1神经节苷脂沉积症。临床上，患病动物表现出比例性侏儒症，并在5至7月龄时出现进行性神经功能障碍，伴有小脑功能障碍的症状。5.5月龄雄性犬的X光片显示，骨骼病变的特征是椎体骨骺软骨内骨化延迟。中枢神经系统（CNS）的组织学检查显示，由于紧密堆积的空泡取代了尼氏体，大多数神经元增大，细胞质呈泡沫状至颗粒状。石蜡包埋切片中的空泡用卢克斯ol坚牢蓝和格罗科特法染色呈阳性，冰冻切片中的空泡过碘酸希夫染色呈阳性。自主神经节的神经元内也出现泡沫样空泡化。脑外细胞如巨噬细胞和外周淋巴细胞也显示出泡沫状细胞质和空泡化。与年龄和性别匹配的对照犬相比，患病动物中枢神经系统灰质中出现轻度脱髓鞘和轴突变性，并伴有明显的星形胶质细胞增生（P<0.05）。与对照组相比，患病动物灰质和白质中的少突胶质细胞也有显著损失（P<0.05）。超微结构上，神经元储存物质由许多圆形至同心的层状膜螺旋或平行排列的膜堆叠组成。阿拉斯加哈士奇的GM1神经节苷脂沉积症类似于其他犬种的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鞘加工紊乱的结果。
