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目的 探讨C型尼曼 匹克病 (NPC)小脑中酪氨酸羟化酶 (TH)异常表达的时间、部位及其与临床表现的关系。 方法 应用TH抗体 ,对不同周龄NPC小鼠和正常小鼠的脑组织切片进行免疫组织化学染色 ,部分相邻切片以抗维生素D依赖性钙结合蛋白抗体染色。 结果 1～ 3周NPC小鼠小脑的浦肯野细胞 (PC)未见明显减少 ,TH染色阴性。 5周时PC开始减少 ,8～ 11周期间PC显著丢失 ,但小脑蚓小结和蚓垂有较多的PC存活。 8周后 ,部分存活的PC及其树突树出现TH免疫反应。其轴突局部球形膨大 ,树突不规则 ,弯曲、断裂、局部膨大 ,树突树萎缩。 结论 NPC1基因突变引起小脑PC严重丢失 ,存活的PC有形态改变和异常基因活动 ,提示其功能不正常 ,这可能是NPC运动障碍的病理基础
Objective To investigate the time and location of abnormal expression of tyrosine hydroxylase (TH) in cerebellar niche of type N Nemansippus (NPC) and its relationship with clinical manifestations. Methods Immunohistochemical staining was performed on brain sections of NPC mice and normal mice at different ages using TH antibody. Some adjacent sections were stained with anti-vitamin D-dependent calcium-binding protein antibody. Results No significant decrease of Purkinje cells (PC) was observed in cerebellum of NPC mice from 1 to 3 weeks, and TH staining was negative. PC began to decrease at 5 weeks, PC was significantly lost during 8 ~ 11 weeks, but there was more PC survival in cerebellar vermiculi and vermis. After 8 weeks, part of the viable PC and its dendritic tree appeared TH immune response. The bulge of the local bulge of axons, irregular dendrites, bending, rupture, local enlargement, dendritic tree atrophy. Conclusion NPC1 gene mutations cause severe loss of cerebellum PC, survival of PC morphological changes and abnormal gene activity, suggesting that its dysfunction, which may be the pathological basis of dyskinesia in NPC