早发型脊髓小脑共济失调6型家系的神经病理学研究

摘要

目的 对我国首次报道的经基因诊断明确的早发型脊髓小脑共济失调6型(spinocerebellar ataxia 6,SCA6)家系进行神经病理学研究.方法 对经基因诊断明确的一个SCA6家系中的2例患者进行尸检,分别取小脑上蚓部、齿状核、下橄榄核等部位进行HE染色、尼氏染色、Golgi染色、Calbindin免疫组织化学以及电镜的检测,研究早发型SCA6中枢神经系统的病理改变.结果 早发型SCA6患者的小脑皮质浦肯野细胞出现严重的神经退行性改变,齿状核、下橄榄核神经元以及大脑皮质中央前回也受到累及,而脊髓相对保存无明显的神经病理学改变.结论 早发型SCA6患者中枢神经系统存在较为严重的神经退行性改变,主要发生在小脑皮质、齿状核以及下橄榄核,这些病理改变随病程的延长而逐渐加重.%Objective To investigate the real type of the first earlier onset spinocerebellar ataxia family in China. Methods Two family members were subjected to autopsy, whose genetypings were confirmed by polymerase chain reaction (PCR) and direct sequencing technique. Golgi staining, immunohistochemistry and electron microscopy methods were used to detect the neurodegeneration in central nervous system of 2 patients. Results The light microscopic and electron microscopic showed synaptic degeneration of Purkinje cell in the cerebellar cortex, which was accompanied by deterioration of Purkinje cell, and both inferior olivary complex, dentate nucleus and anterior central gyrus. Conclusions There is severer neurodegeneration in the central nervous system of earlier onset spiuocerebellar ataxia 6 patient, especially in cerebellar cortex, inferior olivary complex and dentate nucleus, and the neurodegeneration may depend on disease duration.