@article{oai:niigata-u.repo.nii.ac.jp:00018680, author = {山田, 光則 and 高橋, 均 and 生田, 房弘 and 大浜, 栄作}, issue = {4}, journal = {新潟医学会雑誌, 新潟医学会雑誌}, month = {Apr}, note = {Machado-Joseph disease (MJD) is an autosomal dominant hereditary ataxia reported in the Portuguese descendants. During the past 10 years, increasing case reports of MJD in Japanese families have indicated that this particular neurodegenerative disorder is not uncommon in Japan as previously supposed, and that affected sites are widely distributed in the CNS regions including the subthalamo-pallidal system, substantia nigra, pontine nuclei, tegmentum of the brain stem, accessory cuneate nucleus, dentate nucleus, cranial nerve nuclei, anterior horn of the spinal cord, Clarke's column, spinocerebellar tracts, intermediolateral nuclei and Onuf's nucleus. The involvement of subthalamo-pallidal system may be characteristic in Japanese patients.}, pages = {162--167}, title = {2)Machado-Joseph病 病理学的問題点(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)}, volume = {109}, year = {1995} }