Department of Brain Disease Research, Shinshu University School of Medicine, Matsumoto, Japan.
Department of Pathology, Bain Research Institute, Niigata University, Niigata, Japan.
Neuropathology. 2022 Aug;42(4):274-281. doi: 10.1111/neup.12811. Epub 2022 May 23.
The presence of polyglutamine-immunoreactive deposits in neurons of the neostriatum has been reported in dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), and Huntington disease (HD). However, among these diseases, precise quantitative investigations on neurons have been performed only for HD. Changes in the number of neurons and the immunohistological features of polyglutamine deposits in the caudate head and putamen were examined in six patients with DRPLA, three with MJD, and four with HD. In the neostriatum in DRPLA, the numbers of large and small neurons were reduced to 33-38% and 48-68% relative to controls, respectively, whereas the corresponding figures in MJD were 19-26% and 65-76%, respectively, and those in HD were 34-35% and 12-16%, respectively. In DRPLA, 2-55% of neurons remaining in the neostriatum showed diffuse nuclear accumulation of polyglutamine, in contrast to 3-20% in MJD and a few percent in HD. These findings indicate that, in the neostriatum, a decrease in the number of small neurons is predominant in HD, whereas a decrease in the number of large neurons is predominant in DRPLA and MJD. Thus, it is suggested that disease processs differ among polyglutamine diseases.
在齿状核红核苍白球路易体萎缩症（DRPLA）、马查多-约瑟夫病（MJD）和亨廷顿病（HD）的神经元中，已经报道存在多聚谷氨酰胺免疫反应性沉积物。然而，在这些疾病中，只有 HD 对神经元进行了精确的定量研究。检查了 6 例 DRPLA、3 例 MJD 和 4 例 HD 患者的尾状核头和壳核神经元数量和多聚谷氨酰胺沉积物的免疫组织化学特征。在 DRPLA 的新纹状体中，大神经元和小神经元的数量分别减少到对照组的 33-38%和 48-68%，而 MJD 的相应数字分别为 19-26%和 65-76%，HD 则分别为 34-35%和 12-16%。在 DRPLA 中，新纹状体中残留的 2-55%的神经元表现出多聚谷氨酰胺的弥散核积聚，而 MJD 为 3-20%，HD 为少数几个百分点。这些发现表明，在新纹状体中，HD 中小神经元数量的减少占主导地位，而 DRPLA 和 MJD 中则以大神经元数量的减少为主。因此，提示不同的多聚谷氨酰胺疾病具有不同的疾病进程。
