Oculocraniosomatic Neuromuscular Disease With Ragged-Red Fibers: Histochemical and Ultrastructural Changes in Limb Muscles of a Group of Patients With Idiopathic Progressive External Ophthalmoplegia
Oculocraniosomatic Neuromuscular Disease With Ragged-Red Fibers: Histochemical and Ultrastructural Changes in Limb Muscles of a Group of Patients With Idiopathic Progressive External Ophthalmoplegia
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具有锯齿状红色纤维的眼颅体神经肌肉疾病：一组特发性进行性眼外肌麻痹患者肢体肌肉的组织化学和超微结构变化
DOI：
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发表时间：
1972
期刊：
影响因子：
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通讯作者：
R. Einaugler
中科院分区：
文献类型：
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作者：
W. Olson;W. Engel;G. Walsh;R. Einaugler
7例特发性进行性眼瘫伴临床正常或仅轻度弱体肌活检异常，组织化学和超微结构检查显示肌纤维异常由正常和异常线粒体簇和过量脂滴（“红布状”纤维）组成。这种变化被认为是病态的。偶有小的角状纤维，颜色过深，二磷酸吡啶核苷酸-四氮唑还原酶减少，类似于神经支配丧失，提示这些病例中存在额外的神经病变因素。所描述的形态异常，结合特发性进行性眼麻痹，可能代表了一种独特的临床病理综合征，“眼颅躯体神经肌肉疾病伴红纤维皱褶”。其他特征通常包括脑脊液蛋白水平升高，有时心传导异常，视网膜色素沉着，生长受损，感音神经性听力缺损，脑电图异常和共济失调。
In seven cases of idiopathic progressive ophthalmoplegia with abnormal biopsies of clinically normal or only minimally weak somatic muscles, histochemical and ultrastructural examination showed the muscle fiber abnormality to consist of clusters of normal and abnormal mitochondria and excessive lipid droplets ("ragged-red" fiber). That change was considered myopathic. The occasional small angular fibers, excessively dark with reduced diphosphopyridine nucleotide-tetrazolium reductase resembling those present in denervation, suggested an additional minor element of neuropathy in these cases. The described morphologic abnormalities, in combination with idiopathic progressive ophthalmoplegia, may represent a distinct clinicopathologic syndrome, "oculocraniosomatic neuromuscular disease with ragged-red fibers." Additional features usually include elevated cerebrospinal fluid protein levels and sometimes cardiac conduction abnormalities, retinal pigmentation, impaired growth, and sensorineural hearing defect, abnormal electroencephalogram, and ataxia.