Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient
Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient
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基于解剖学的中枢体感系统系统研究指南及其在 2 型脊髓小脑共济失调 (SCA2) 患者中的应用
DOI：
10.1046/j.1365-2990.2003.00504.x
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发表时间：
2003
影响因子：
5
通讯作者：
G. Auburger
中科院分区：
文献类型：
--
作者：
U. Rüb;C. Schultz;K. Tredici;K. Gierga;G. Reifenberger;R. D. Vos;C. Seifried;H. Braak;G. Auburger
体感系统功能障碍是多种多聚谷氨酰胺或 CAG 重复疾病的临床症状之一。该系统内的缺陷可能会阻碍对潜在威胁的感知，损害躯体运动功能，并导致运动不协调、共济失调和跌倒。然而，尽管此类缺陷具有相当大的临床相关性，但目前还没有针对多聚谷氨酰胺疾病中枢体感系统的系统病理解剖学研究。本文有两个目标：（1）重新推荐一种经济的组织采样方法并优化该组织的组织学处理，以便快速可靠地评估这个复杂系统内所有已知中继站和互连纤维束的结构完整性，以及（2）为人类中枢体感系统的快速而详细的病理解剖学研究程序提出指南。为此，我们借鉴了神经解剖学研究的现状，并将本文提出的方法和指南应用于一名 25 岁的 2 型脊髓小脑共济失调 (SCA2) 女性患者。使用 SCA2 患者中枢体感组件的 100μm 连续切片显示，该系统的几乎所有中继站（克拉克柱；楔形、外楔形和薄弱核；脊髓、主和中脑三叉神经核；丘脑腹侧后外侧核和腹侧后内侧核）均发生明显的神经元丢失，而大多数互连纤维束（脊髓小脑背侧束；楔形束和薄束；内侧丘系；三叉脊束、三叉神经和中脑三叉束）表现出萎缩迹象并伴有脱髓鞘作用。这些病理学发现足以解释患者的振动感、位置感和温度感受损。此外，与运动小脑丘脑皮质反馈回路（脑桥核、小脑深核和小脑皮质、丘脑腹外侧核）中看到的损伤一起，它们还解释了在年轻女性中观察到的躯体运动缺陷（步态、站立和肢体共济失调、跌倒和书写障碍）。在提出这些新指南时，我们希望能让其他人能够研究其他 CAG 重复疾病患者中迄今为止未知的体感功能障碍的形态学对应物。
Dysfunctions of the somatosensory system are among the clinical signs that characterize a variety of polyglutamine or CAG‐repeat diseases. Deficits within this system may hinder the perception of potential threats, be detrimental to somatomotor functions, and result in uncoordinated movements, ataxia, and falls. Despite the considerable clinical relevance of such deficits, however, no systematic pathoanatomical studies of the central somatosensory system in polyglutamine diseases are currently available. The present paper has two goals: (1) re‐commendation of an economical tissue sampling method and optimized histological processing of this tissue to allow rapid and reliable evaluation of the structural integrity of all known relay stations and interconnecting fibre tracts within this complex system, and (2) the proposal of guidelines for a rapid and detailed pathoanatomical investigative procedure of the human central somatosensory system. In so doing, we draw on the current state of neuroanatomic research and apply the methods and guidelines proposed here to a 25‐year‐old female patient with spinocerebellar ataxia type 2 (SCA2). The use of 100 µm serial sections through the SCA2 patient's central somatosensory components showed that obvious neuronal loss occurred in nearly all of the relay stations of this system (Clarke's column; cuneate, external cuneate and gracile nuclei; spinal, principal and mesencephalic trigeminal nuclei; ventral posterior lateral and ventral posterior medial nuclei of the thalamus), whereas the majority of interconnecting fibre tracts (dorsal spinocerebellar tract; cuneate and gracile fascicles; medial lemniscus; spinal trigeminal tract, trigeminal nerve and mesencephalic trigeminal tract) displayed signs of atrophy accompanied by demyelinization. These pathological findings suffice to explain the patient's impaired senses of vibration, position and temperature. Moreover, together with the lesions seen in the motor cerebellothalamocortical feedback loop (pontine nuclei, deep cerebellar nuclei and cerebellar cortex, ventral lateral nucleus of the thalamus), they also account for the somatomotor deficits that were observed in the young woman (gait, stance, and limb ataxia, falls, and impaired writing). In proposing these new guidelines, we hope to enable others to study the hitherto unknown morphological counterparts of somatosensory dysfunctions in additional CAG‐repeat disease patients.
常染色体显性小脑共济失调患者中脊髓小脑共济失调 2 型三核苷酸重复的患病率和广泛的临床谱。
影响因子：
9.8
作者：
Geschwind,DH;Perlman,S;Figueroa,CP;Treiman,LJ;Pulst,SM
通讯作者：
Pulst,SM