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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)
http://hdl.handle.net/10191/42312
0b76bfdf-a53a-4491-ab10-0ee54f8005c1
名前 / ファイル | ライセンス | アクション | |
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2016-06-27 | |||||
タイトル | ||||||
タイトル | 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) | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | 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) | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Machado-Joseph disease | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | SCA-1 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | SCA-2 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | DRPLA | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 脊髄小脳変性症 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ジョセフ病 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | メンツェル病 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 遺伝性 OPCA | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 歯状核 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 赤核 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 淡蒼球 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ルイ体萎縮症 | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | departmental bulletin paper | |||||
その他のタイトル | ||||||
その他のタイトル | Clinical Features of Machado-Joseph Disease : a Special Reference for Differential Diagnosis of Autosomal Dominant Ataxia, SCA-1, SCA-2 and DRPLA (Pathophysiology of Hereditary Neurologic Diseases) | |||||
著者 |
湯浅, 龍彦
× 湯浅, 龍彦 |
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著者別名 | ||||||
識別子 | ||||||
識別子 | 116739 | |||||
識別子Scheme | WEKO | |||||
姓名 | ||||||
姓名 | Yuasa, Tatsuhiko | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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. | |||||
書誌情報 |
新潟医学会雑誌 en : 新潟医学会雑誌 巻 109, 号 4, p. 155-161, 発行日 1995-04 |
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出版者 | ||||||
出版者 | 新潟医学会 | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 00290440 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00182415 | |||||
著者版フラグ | ||||||
値 | publisher |