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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan

http://hdl.handle.net/10091/16901
http://hdl.handle.net/10091/16901
88ace44c-fca3-48ff-8fe7-19f8ec22b61a
名前 / ファイル ライセンス アクション
Severity_progression_rate_cerebellar_ataxia_16q-linked_autosomal_dominant_cerebellar_ataxia.pdf Severity_progression_rate_cerebellar_ataxia_16q-linked_autosomal_dominant_cerebellar_ataxia.pdf (679.2 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2013-04-01
タイトル
タイトル Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan
言語
言語 eng
DOI
関連識別子 https://doi.org/10.1007/s12311-008-0062-8
関連名称 10.1007/s12311-008-0062-8
キーワード
主題 Cerebellar ataxia, 16q-ADCA, SCA6, ICARS, SARA, Puratrophin-1
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Yoshida, Kunihiro

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Shimizu, Yusaku

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Morita, Hiroshi

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Okano, Tomomi

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Sakai, Haruya

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Ohata, Takako

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Matsumoto, Naomichi

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Nakamura, Katsuya

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Tazawa, Ko-ichi

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Ohara, Shinji

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Tabata, Kenichi

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Inoue, Atsushi

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Sato, Shunichi

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Shimojima, Yasuhiro

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Hattori, Takeshi

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Ushiyama, Masao

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Ikeda, Shu-ichi

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信州大学研究者総覧へのリンク
氏名 Yoshida, Kunihiro
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html
信州大学研究者総覧へのリンク
氏名 Morita, Hiroshi
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.HUyNHhkh.html
信州大学研究者総覧へのリンク
氏名 Shimojima, Yasuhiro
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.ghTmHVkh.html
出版者
出版者 SPRINGER
引用
内容記述 CEREBELLUM. 8(1):46-51 (2009)
書誌情報 CEREBELLUM

巻 8, 号 1, p. 46-51, 発行日 2009-03
抄録
内容記述 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5' untranslated region of the puratrophin-1 gene. In Nagano, the central mountainous district of the main island of Japan, 16q-ADCA and spinocerebellar ataxia type 6 (SCA6) are the most and second most prevalent subtypes of ADCA, respectively. Both subtypes are classified into Harding's ADCA III, but little attention has been given to the differences in the severity and progression rate of cerebellar ataxia between 16q-ADCA and SCA6. We investigated the clinical severity and progression rate of cerebellar ataxia of 16q-ADCA patients using international cooperative ataxia rating scale and scale for the assessment and rating of ataxia and compared them with those of SCA6 patients. The age at onset was much higher in 16q-ADCA patients (60.1 +/- 9.8 years, n = 66) than in SCA6 patients (41.1 +/- 8.7 years, n = 35). Clinical features of 16q-ADCA were basically consistent with pure cerebellar ataxia, as well as in SCA6, but gaze-evoked nystagmus was observed less frequently in 16q-ADCA patients than in SCA6 patients. When compared at almost the same disease duration after onset, the severity of cerebellar ataxia was a little higher, and the progression rate seemed more rapid in 16q-ADCA patients than in SCA6 patients, but the differences were not significant.
資源タイプ(コンテンツの種類)
ISSN
収録物識別子タイプ PISSN
収録物識別子 1473-4222
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AA11691452
PubMed
識別子タイプ PMID
関連識別子 https://pubmed.ncbi.nlm.nih.gov/18855094
関連名称 18855094
権利
権利情報 The final publication is available at www.springerlink.com
出版タイプ
出版タイプ AM
出版タイプResource http://purl.org/coar/version/c_ab4af688f83e57aa
WoS
URL http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000263830500007
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Cite as

Yoshida, Kunihiro, Shimizu, Yusaku, Morita, Hiroshi, Okano, Tomomi, Sakai, Haruya, Ohata, Takako, Matsumoto, Naomichi, Nakamura, Katsuya, Tazawa, Ko-ichi, Ohara, Shinji, Tabata, Kenichi, Inoue, Atsushi, Sato, Shunichi, Shimojima, Yasuhiro, Hattori, Takeshi, Ushiyama, Masao, Ikeda, Shu-ichi, 2009, Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan: SPRINGER, 46–51 p.

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