Joseph's disease: Clinical and pathological studies in a Japanese family
Joseph's disease: Clinical and pathological studies in a Japanese family
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约瑟夫氏病：日本家庭的临床和病理研究
DOI：
10.1002/ana.410190207
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发表时间：
1986
影响因子：
11.2
通讯作者：
T. Miyatake
中科院分区：
文献类型：
--
作者：
T. Yuasa;E. Ohama;H. Harayama;M. Yamada;Yasuhiro Kawase;M. Wakabayashi;T. Atsumi;T. Miyatake
约瑟夫病是一种遗传性共济失调，发现于来自亚速尔群岛的葡萄牙人后代。我们描述了一个日本家庭的4名成员的临床和病理特征，他们被诊断为约瑟夫病。这种疾病始于18至45岁之间的小脑性共济失调。早期表现为眼球震颤、构音障碍和锥体体征。晚期出现眼外肌麻痹、肌张力障碍和/或肢体运动，以及肌肉萎缩。1例患者的神经病理学表现为齿状核和苍白球系统、黑质、桥小脑系统、Clarke‘s柱和脊髓小脑束、前角细胞以及脑干中的颅核变性。下橄榄核、浦肯野细胞和颗粒细胞、大脑皮层、丘脑和纹状体的神经元幸免于难。受累于齿状突部和苍白球系统似乎是日本这种疾病的特征。
Joseph's disease is a hereditary ataxia found among descendants of Portuguese from the Azores Islands. We describe the clinical and pathological features of 4 members of a Japanese family who were diagnosed as having Joseph's disease. The illness began with cerebellar ataxia between the ages of 18 and 45 years. Nystagmus, dysarthria, and pyramidal signs were early manifestations. External ophthalmoplegia, dystonia and/or athetotic movements, and muscular atrophy appeared in the late stages. Neuropathological findings in one patient revealed degeneration of the dentatorubral and pallidoluysian systems, substantia nigra, pontocerebellar system, Clarke's column and spinocerebellar tracts, and anterior horn cells, as well as the cranial nuclei in the brainstem. Neurons in the inferior olivary nuclei, Purkinje's and granule cells, the cerebral cortex, thalamus, and striatum were spared. Involvement of the dentatorubral and pallidoluysian systems seems to be a characteristic feature of this disease in Japan.