Takeda S, Wakabayashi K, Ohama E, Ikuta F
Department of Pathology, Niigata University, Japan.
Acta Neuropathol. 1988;75(5):433-40. doi: 10.1007/BF00687129.
The post-mortem findings are reported of two patients with myoclonus epilepsy associated with ragged-red fibers (MERRF, Fukuhara's disease), whose clinical findings have been described in detail previously. In addition to the mitochondrial myopathy, both patients had consistent lesions in the central and peripheral nervous systems: (1) degeneration of the dentatorubral and pallidoluysian systems, (2) spinal cord lesions resembling Friedreich's ataxia, and (3) degeneration of the substantia nigra, cerebellar cortex, inferior olivary nucleus, locus ceruleus, gracile and cuneate nuclei, and the pontine tegmentum. The nature and distribution of the lesions are different not only from the other mitochondrial encephalomyopathies but also from other known diseases. It is concluded that MERRF is a disease entity.
本文报告了两例伴有破碎红纤维的肌阵挛性癫痫（MERRF，福原病）患者的尸检结果，其临床发现此前已有详细描述。除线粒体肌病外，两名患者的中枢和周围神经系统均有一致的病变：（1）齿状红核和苍白球路易体系统变性；（2）类似弗里德赖希共济失调的脊髓病变；（3）黑质、小脑皮质、下橄榄核、蓝斑、薄束核、楔束核和脑桥被盖部变性。这些病变的性质和分布不仅与其他线粒体脑肌病不同，也与其他已知疾病不同。结论是MERRF是一种独立的疾病实体。
