@article{oai:niigata-u.repo.nii.ac.jp:00018679,
 author = {湯浅, 龍彦},
 issue = {4},
 journal = {新潟医学会雑誌, 新潟医学会雑誌},
 month = {Apr},
 note = {Recent advances in molecular genetics has clarified the disease locus in the chromosomal mapping, including chromosome 6p for SCA-1, chromosome 12q for Menzel (SCA-2), chromosomal 12p for DRPLA, and chromosome 14q for MJD. In this article I will discuss about the clinical viewpoints, which favorate for making the differential diagnosis of Machado-Joseph disease (MJD) from other form of autosomal dominant spinocerebellar atrophy, including Yakura (SCA-1), Menzel (SCA-2), and DRPLA. The symptoms and signs of cerebellar ataxia, including gait ataxia are the most common features among these dominantly inherited ataxic diseases, and there are only a few but important markers left for differential diagnosis. The overt external ophtalmoplegia is a cardinal feature for MJD as well as for SCA-1, but not for DRPLA and SCA-2. Slow saccade eye movement is a popular sign for both SCA-1 and SCA-2. Mental deterioration and dementia are scarecely seen in patients with MJD, but are frequently seen in DRPLA, SCA-1 and also in SCA-2. Epileptic seizure is hardly seen in MJD, and SCA-1 and SCA-2, but is one of important features of DRPLA. Investigation of family members of these diseases is needed for making clinical and genetical diagnosis precisely.},
 pages = {155--161},
 title = {1)Machado-Joseph病の臨床像について : 特に周辺疾患との鑑別を中心に(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}
}