Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T
J Neurol Sci. 1980 Jul;47(1):117-33. doi: 10.1016/0022-510x(80)90031-3.
A report is given of an association of dyssynergia cerebellaris myoclonica associated with Friedreich's ataxia and mitochondrial myopathy in 2 patients. They had suffered from gradually increasing bursts of myoclonus since the wage of 14 and childhood, respectively. The other striking clinical features included generalized convulsions, mental deterioration, intention tremor, ataxia, muscular atrophy and deformity of feet. Muscle biopsies revealed ragged-red fibres in both cases. On electron microscopy these fibres contained subsarcolemnal aggregations of abundant abnormal mitochondria with proliferation of inner membranes or paracrystalline inclusions. One of these patients showed elevated blood lactate and pyruvate with an increased lactate/pyruvate ration, apparently of primary origin. These 2 cases resemble those reported briefly by Tsairis et al. (1974). An association of dyssynergia cerebellaris myoclonica associated with Friedreich's ataxia and mitochondrial myopathy in these 2 patients is unlikely to be coincidental but may represent one nosological entity. This myoclonus epilepsy syndrome associated with ragged-red fibres is compared with other possibly related mitochondrial encephalomyopathies.
报告了2例肌阵挛性小脑协同失调与弗里德赖希共济失调及线粒体肌病相关联的病例。他们分别从14岁起及儿童时期就开始出现逐渐增多的肌阵挛发作。其他显著的临床特征包括全身性惊厥、智力衰退、意向性震颤、共济失调、肌肉萎缩和足部畸形。肌肉活检显示两例均有破碎红纤维。电镜检查发现这些纤维含有大量异常线粒体的肌膜下聚集，伴有内膜增生或类晶体包涵体。其中1例患者血乳酸和丙酮酸升高，乳酸/丙酮酸比值增加，显然为原发性。这2例病例与Tsairis等人（1974年）简要报道的病例相似。这2例患者中肌阵挛性小脑协同失调与弗里德赖希共济失调及线粒体肌病相关联不太可能是巧合，而可能代表一种疾病实体。将这种与破碎红纤维相关的肌阵挛癫痫综合征与其他可能相关的线粒体脑肌病进行了比较。
