Work

2) Machado-Joseph病の神経病理(シンポジウム遺伝性脊髄小脳変性症 : 最近の知見から, 第417回新潟医学会)

Year: 1986

Type: article

Abstract: Although clinical reports of Machado-Joseph disease have been increasing, its neuropathology is not fully understood. We studied neuropathologically a patient with Machado-Joseph disease in a Japanese family and reviewed the pathological findings of the past literatures. Case report: There were four patients in the two generations of this K－family, and the hereditary pattern seemed to be autosomally dominant. The patient noticed unsteadiness of gait at age 18. Cerebellar ataxia and brisked deep tendon reflexes were observed. At age 28, she had facial grimacing, dystonic posture and athetotic movement in the neck, trunk and extremities. Thereafter muscle atrophy and progressive external ophthalmoplegia appeared, and she died at age 34. Main neuropathological findings were as follows. Affected sites: globus pallidus, subthalamic nucleus, substantia nigra, pontine nuclei, dentate nucleus, cranial nerve nuclei, anterior horn cells, Clarke's column, dorsal and ventral spinocerebellar tracts. Unaffected sites: cerebral cortex, thalamus, inferior olivary nucleus, cerebellar cortex and corticospinal tract. We considered that the degeneration of subthalamo-pallidal system seemed to be one of the essential changes of Machado-Jaseph disease, especially in the Japanese cases. At present, it seems to be proper to consider that Machado-Joseph disease is a unique heredo-degenerative disease.

Source: Institutional Repositories DataBase (IRDB)