Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease
Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease
复制标题
舞蹈病-棘红细胞增多症和亨廷顿病中大脑皮层的病理结构
DOI：
10.1111/nan.12495
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发表时间：
2019-04-01
影响因子：
5
通讯作者：
Danek, A.
中科院分区：
文献类型：
--
作者：
Liu, J.;Heinsen, H.;Danek, A.
目的定量评估舞蹈病棘红细胞增多症（ChAc）患者皮质神经元丢失及其对层状结构的影响。方法：我们使用无偏体视学工具，通过三名受试者的完整半球，用基因验证的ChAc和一系列疾病持续时间，在连续的没食子花青染色脑切片中估计皮质病理学程度。我们将这些结果与我们以前的5例亨廷顿病（HD）和5例对照病例的数据进行了比较。病理结构的变化被示例性地记录在TE 1的61岁的女性HD-，60岁的女性对照病例，和ChAc 3。结果肉眼观察，ChAc病例（ChAc 1 -3）的皮质体积接近正常。然而，神经元的平均数量在ChAc中减少了46%，在HD中减少了33%（对于ChAc和HD与对照相比P = 0.03;对于ChAc与HD相比P = 0.64）。终末期HD病例的特征是选择性层状神经元丢失，III、V和VIa层苍白，皮质深层VI和V中有高密度的小、苍白、紧密排列的放射状纤维，皮质下白色物质收缩和嗜色。在ChAc，明显的弥漫性星形胶质细胞增生模糊了层状边界，从而掩盖了完全和部分损失的锥体细胞在第IIIc层和神经元在第III，V和VI层。结论ChAc是一种以皮质神经退行性变为特征的神经退行性疾病。具有粗纵纹的微柱周围神经间隙的肥大是ChAc的特征。星形胶质细胞在这种疾病的发病机制中的作用仍有待阐明。
Aims Quantitative estimation of cortical neurone loss in cases with chorea-acanthocytosis (ChAc) and its impact on laminar composition. Methods We used unbiased stereological tools to estimate the degree of cortical pathology in serial gallocyanin-stained brain sections through the complete hemispheres of three subjects with genetically verified ChAc and a range of disease durations. We compared these results with our previous data of five Huntington's disease (HD) and five control cases. Pathoarchitectonic changes were exemplarily documented in TE1 of a 61-year-old female HD-, a 60-year-old female control case, and ChAc3. Results Macroscopically, the cortical volume of our ChAc cases (ChAc1-3) remained close to normal. However, the average number of neurones was reduced by 46% in ChAc and by 33% in HD (P = 0.03 for ChAc & HD vs. controls; P = 0.64 for ChAc vs. HD). Terminal HD cases featured selective laminar neurone loss with pallor of layers III, V and VIa, a high density of small, pale, closely packed radial fibres in deep cortical layers VI and V, shrinkage, and chromophilia of subcortical white matter. In ChAc, pronounced diffuse astrogliosis blurred the laminar borders, thus masking the complete and partial loss of pyramidal cells in layer IIIc and of neurones in layers III, V and VI. Conclusion ChAc is a neurodegenerative disease with distinct cortical neurodegeneration. The hypertrophy of the peripheral neuropil space of minicolumns with coarse vertical striation was characteristic of ChAc. The role of astroglia in the pathogenesis of this disorder remains to be elucidated.