Pathoanatomy of Cerebellar Degeneration in Spinocerebellar Ataxia Type 2 (SCA2) and Type 3 (SCA3)
Pathoanatomy of Cerebellar Degeneration in Spinocerebellar Ataxia Type 2 (SCA2) and Type 3 (SCA3)
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DOI：
10.1007/s12311-011-0340-8
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发表时间：
2012-09-01
期刊：
影响因子：
3.5
通讯作者：
Rueb, U.
中科院分区：
文献类型：
--
作者：
Scherzed, W.;Brunt, E. R.;Rueb, U.
小脑是脊髓小脑性共济失调2型（SCA2）和3型（SCA3）的病理过程的一个众所周知的目标。尽管它的关键作用，这些多聚谷氨酰胺共济失调的临床图片，没有通过小脑连续组织切片的病理解剖学研究已在SCA2和SCA3到目前为止。详细的病理解剖学数据是识别SCA2和SCA3的基础疾病过程的初始事件以及重建其通过大脑的传播的重要先决条件。在本研究中，我们进行了一系列厚组织切片的病理解剖调查，通过小脑的临床诊断和遗传学确诊的SCA2和SCA3患者。这项研究表明，小脑浦肯野细胞层和所有四个深小脑核一致经历相当大的神经元损失在SCA2和SCA3。这些小脑发现实质上有助于临床症状的发病机制（即，SCA2和SCA3患者的构音障碍、意向性震颤、眼功能障碍），并且可以促进SCA2和SCA3的病理过程的初始病理改变的鉴定以及其通过脑的传播的重建。
The cerebellum is one of the well-known targets of the pathological processes underlying spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). Despite its pivotal role for the clinical pictures of these polyglutamine ataxias, no pathoanatomical studies of serial tissue sections through the cerebellum have been performed in SCA2 and SCA3 so far. Detailed pathoanatomical data are an important prerequisite for the identification of the initial events of the underlying disease processes of SCA2 and SCA3 and the reconstruction of its spread through the brain. In the present study, we performed a pathoanatomical investigation of serial thick tissue sections through the cerebellum of clinically diagnosed and genetically confirmed SCA2 and SCA3 patients. This study demonstrates that the cerebellar Purkinje cell layer and all four deep cerebellar nuclei consistently undergo considerable neuronal loss in SCA2 and SCA3. These cerebellar findings contribute substantially to the pathogenesis of clinical symptoms (i.e., dysarthria, intention tremor, oculomotor dysfunctions) of SCA2 and SCA3 patients and may facilitate the identification of the initial pathological alterations of the pathological processes of SCA2 and SCA3 and reconstruction of its spread through the brain.