Yang Q, Hashizume Y, Yoshida M, Wang Y, Goto Y, Mitsuma N, Ishikawa K, Mizusawa H
Institute for Medical Science of Aging, Aichi Medical University, Japan.
Acta Neuropathol. 2000 Oct;100(4):371-6. doi: 10.1007/s004010000201.
Spinocerebellar ataxia type 6 (SCA6) was recently identified as a form of autosomal dominant spinocerebellar ataxia associated with a small CAG repeat expansion of the gene encoding an alpha 1 A-voltage-dependent calcium channel gene subunit on chromosome 19p13. In this study 50-microm-thick sections of cerebellar tissue from one patient with SCA6 were subjected to free-floating immunohistochemical staining with calbindin-D and parvalbumin antibodies. Severe loss of Purkinje cells was found, particularly in the vermis, and various morphological changes in Purkinje cells and their dendritic arborizations were demonstrated. Many of the remaining Purkinje cells were found to have heterotopic, irregularly shaped nuclei, an unclear cytoplasmic membrane outline, and somatic sprouts. Increased numbers of spine-like protrusions from swelling dendritic arborizations were found in the molecular layer. The axonal arrangement was disordered, and many torpedos were found in the granular layer and white matters. These morphological changes are completely different from those observed in paraneoplastic cerebellar degeneration (PCD) and multiple system atrophy (MSA) and are considered to be related to the genetic abnormality that causes abnormal development of Purkinje cells.
6型脊髓小脑共济失调（SCA6）最近被确定为常染色体显性脊髓小脑共济失调的一种形式，与19号染色体p13上编码α1A电压依赖性钙通道基因亚基的基因中一个小的CAG重复序列扩增有关。在本研究中，对一名SCA6患者的小脑组织进行50微米厚切片，用钙结合蛋白-D和小白蛋白抗体进行游离免疫组织化学染色。发现浦肯野细胞严重缺失，尤其是在小脑蚓部，并且证实了浦肯野细胞及其树突分支存在各种形态学变化。发现许多剩余的浦肯野细胞具有异位、形状不规则的细胞核、不清楚的细胞质膜轮廓和体细胞芽。在分子层中发现肿胀的树突分支上有棘状突起数量增加。轴突排列紊乱，在颗粒层和白质中发现许多鱼雷样结构。这些形态学变化与副肿瘤性小脑变性（PCD）和多系统萎缩（MSA）中观察到的变化完全不同，被认为与导致浦肯野细胞异常发育的基因异常有关。
