Background

The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal repetitive movements or postures. In blepharospasm, the face is affected, leading to excessive eye blinking and spasms of muscles around the eyes. The pathogenesis of blepharospasm is not well understood, but several imaging studies have implied subtle structural defects in several brain regions, including the cerebellum.

Objective

To delineate cerebellar pathology in brains collected at autopsy from 7 human subjects with blepharospasm and 9 matched controls.

Methods

Sections from 3 cerebellar regions were sampled and processed using Nissl and silver impregnation stains. Purkinje neurons were the focus of the evaluation, along with as several other subtle pathological features of cerebellar dysfunction such as Purkinje neuron axonal swellings (torpedo bodies), proliferation of basket cell processes around Purkinje neurons (hairy baskets), empty baskets (missing Purkinje neurons), and displacement of cell soma from their usual location (ectopic Purkinje neurons).

Results

The results revealed a significant reduction in Purkinje neuron and torpedo body density, but no changes in any of the other measures.

Conclusions

These findings demonstrate subtle neuropathological changes similar to those reported for subjects with cervical dystonia. These findings may underly some of the subtle imaging changes reported for blepharospasm.

中文翻译：

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眼睑痉挛的神经病理学

背景

肌张力障碍是一组以肌肉过度收缩导致异常重复运动或姿势为特征的疾病。在眼睑痉挛中，面部会受到影响，导致过度眨眼和眼睛周围的肌肉痉挛。眼睑痉挛的发病机制尚不清楚，但几项影像学研究表明，包括小脑在内的几个大脑区域存在细微的结构缺陷。

客观的

描绘在尸体解剖时收集的大脑中的小脑病理学，这些大脑来自 7 名患有眼睑痉挛的人类受试者和 9 名匹配的对照。

方法

使用 Nissl 和银浸渍染色对 3 个小脑区域的切片进行取样和处理。浦肯野神经元是评估的重点，以及小脑功能障碍的其他几个细微病理特征，例如浦肯野神经元轴突肿胀（鱼雷体）、浦肯野神经元周围篮状细胞突起的增殖（毛篮）、空篮（缺失浦肯野神经元） ), 以及细胞体从它们通常的位置 (异位浦肯野神经元) 的位移。

结果

结果显示浦肯野神经元和鱼雷体密度显着降低，但其他任何指标都没有变化。

结论

这些发现表明细微的神经病理学变化与颈肌张力障碍受试者的报告相似。这些发现可能是报告的眼睑痉挛的一些细微影像变化的基础。