Cork L C, Munnell J F, Lorenz M D, Murphy J V, Baker H J, Rattazzi M C
Science. 1977 May 27;196(4293):1014-7. doi: 10.1126/science.404709.
Two kitteens with progressive neurologic disease had increased concentrations of GM2 ganglioside in their cerebral cortex. Examination under the light microscope revealed cytoplasmic vacuolation of neurons and hepatocytes. Transmission and scanning electron microscopy demosntrated cytoplasmic inclusions encompassed by membranes in various central nervous system cell types and in hepatocytes. Beta-D-N-acetyl-hexosaminidase activity was reduced to about 1.0 percent of normal in brain, liver, and cultured skin fibroblasts of the diseased kittens; both major electrophoretic forms, A and B, of the enzyme were deficient. In fibroblasts from the parents of the diseased kittens, this enzyme activity was intermediate between that of affected and normal cats, suggesting an autosomal recessive mode of inheritance of the enzyme defect. Histopahtological and ultrastructural lesions, glycolipid storage, enzyme defect, and pattern of inheritance are similar to those of human GM2 gangliosidosis type 2.
两只患有进行性神经疾病的小猫大脑皮质中GM2神经节苷脂浓度升高。光学显微镜检查显示神经元和肝细胞出现细胞质空泡化。透射电子显微镜和扫描电子显微镜显示，在各种中枢神经系统细胞类型和肝细胞中，细胞质内含物被膜包裹。患病小猫的大脑、肝脏和培养的皮肤成纤维细胞中，β-D-N-乙酰己糖胺酶活性降至正常水平的约1.0%；该酶的两种主要电泳形式A和B均缺乏。在患病小猫父母的成纤维细胞中，这种酶活性介于患病猫和正常猫之间，提示该酶缺陷为常染色体隐性遗传模式。组织病理学和超微结构病变、糖脂蓄积、酶缺陷以及遗传模式与人类2型GM2神经节苷脂贮积症相似。
