Ringel S P, Wilson W B, Barden M T
Ann Neurol. 1979 Oct;6(4):326-39. doi: 10.1002/ana.410060406.
A quantitatives assessment of the pathological changes in extraocular muscle is presented in 8 patients with chronic progressive external ophthalmoplegia (CPEO). Serial cross-sections of extraocular muscle were stained with a battery of histochemical and immunohistochemical techniques and compared with 36 normal extraocular muscles and 1 muscle from a patient who had longstanding third nerve plasy with anomalous reinnervation. Several of the patients had a striking increase in the number of ragged-red fibers in extraocular muscle, particularly if frequent ragged-red fibers also were found on limb muscle biopsy. One patients demonstrated extrajunctional acetylcholine receptor (AChR) in a small percentage of fibers, although this finding was not present in the reinnervated muscle. Numerous darkly staining central regions were noted in the ocular muscle fibers of a patient with Stephens syndrome (CPEO, peripheral neuropathy, and cerebellar disease) and in the reinnervated muscle. A patient with myotubular myopathy had single central nuclei in both limb and ocular muscle. All patients demonstrated in their extraocular muscles variation in both the size and distribution of each of the three histochemical fiber types. Extraocular muscle biopsy proved to be a safe, reliable technique. As a similar quantitative analysis is applied to the study of further patients, a better understanding of the pathogenesis of CPEO should be possible.
对8例慢性进行性眼外肌麻痹（CPEO）患者的眼外肌病理变化进行了定量评估。采用一系列组织化学和免疫组织化学技术对眼外肌的连续横断面进行染色，并与36条正常眼外肌以及1条来自长期动眼神经麻痹伴异常再支配患者的肌肉进行比较。部分患者眼外肌中破碎红纤维数量显著增加，尤其是肢体肌肉活检中也发现频繁出现破碎红纤维的患者。1例患者在小部分纤维中显示出肌膜外乙酰胆碱受体（AChR），尽管在再支配肌肉中未发现这一现象。在患有斯蒂芬斯综合征（CPEO、周围神经病和小脑疾病）的患者的眼肌纤维以及再支配肌肉中发现了许多深色染色的中央区域。1例患有肌管性肌病的患者在肢体和眼肌中均有单个中央核。所有患者的眼外肌中三种组织化学纤维类型的大小和分布均存在差异。眼外肌活检被证明是一种安全、可靠的技术。随着对更多患者应用类似的定量分析，有望更好地理解CPEO的发病机制。
