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  1. 0 資料タイプ別
  2. 03 紀要論文
  1. 250 大学院医歯学総合研究科(医)
  2. 20 紀要
  3. 02 新潟医学会雑誌
  4. 第109巻第4号

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
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
109(4)_155-161.pdf 109(4)_155-161.pdf (1.3 MB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
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

WEKO 116738

湯浅, 龍彦

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著者別名
識別子 116739
識別子Scheme WEKO
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
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
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