脊髄小脳失調症6型
- 関
- dominantly-inherited spinocerebellar ataxia、spinocerebellar ataxia、spinocerebellar ataxia type 1、spinocerebellar ataxia type 2、spinocerebellar ataxia type 4、spinocerebellar ataxia type 5、spinocerebellar ataxia type 7、spinocerebellar atrophy
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- inability to coordinate voluntary muscle movements; unsteady movements and staggering gait (同)ataxy, dyssynergia, motor_ataxia
- writing done with a typewriter (同)typewriting
PrepTutorEJDIC
- 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
UpToDate Contents
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English Journal
- Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia.
- Shimojima K, Okumura A, Natsume J, Aiba K, Kurahashi H, Kubota T, Yokochi K, Yamamoto T.SourceTokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
- Brain & development.Brain Dev.2012 Mar;34(3):230-3. Epub 2011 May 19.
- Many types of spinocerebellar ataxias (SCAs) manifest as progressive disorders with cerebellar involvement. SCA type 27 (SCA27) is a rare type of SCA caused by mutations in the fibroblast growth factor 14 gene (FGF14). FGF14 disruption caused by a de novo reciprocal chromosomal translocation between
- PMID 21600715
- Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan.
- Abe K, Ikeda Y, Kurata T, Ohta Y, Manabe Y, Okamoto M, Takamatsu K, Ohta T, Takao Y, Shiro Y, Shoji M, Kamiya T, Kobayashi H, Koizumi A.SourceDepartment of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama University, Okayama Department of Neurology, Ohta Memorial Hospital, Fukuyama Deparment of Neurology, Kurashiki Heisei Hospital, Kurashiki Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
- European journal of neurology : the official journal of the European Federation of Neurological Societies.Eur J Neurol.2012 Feb 21. doi: 10.1111/j.1468-1331.2012.03669.x. [Epub ahead of print]
- Background: A variety of hereditary spinocerebellar ataxia (SCA) develops a broad spectrum of both ataxia and non-ataxia symptoms. Cognitive and affective changes are one such non-ataxia symptoms, but have been described only in hereditary SCAs with exonic CAG gene expansion. Methods: We newly
- PMID 22353375
Japanese Journal
- RNA biologyからみた神経変性疾患の病態機序(1)脊髄小脳失調症31型(SCA31)の病態 (第1土曜特集 神経変性疾患 : 研究と診療の進歩) -- (神経変性疾患の病態機序の解明)
- 脊髄小脳変性症:- ミクログリア動態に対する運動効果の検討 -
- 須藤 奈々,中村 和裕,平井 宏和,Suto Nana,Nakamura Kazuhiro,Hirai Hirokazu
- 北関東医学 63(3), 209-215, 2013
- <B>【目 的】</B> アルツハイマー病では, 運動が脳内ミクログリアの異常増殖を減少させ, 神経変性を抑制することが報告されている. 本研究では, アルツハイマー病と同様に神経変性疾患である脊髄小脳変性症のモデルマウスの小脳において, 運動がミクログリアの動態へ及ぼす効果を調べることを目的とした. <B>【対象と方法】</B> 最初に通常飼育の野 …
- NAID 130003368245
- T2-hyperintensity of the Middle Cerebellar Peduncles in a Patient with SCA7
- Yoshida Shun,Kikuchi Akio,Tateyama Maki,Aoki Masashi
- Internal Medicine 52(12), 1433-1434, 2013
- NAID 130003365655
Related Links
- Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, incontinence, peripheral neuropathy, and ataxia of gait, stance and ...
- What is spinocerebellar ataxia type 6? Spinocerebellar ataxia type 6 (SCA6) is one type of ataxia among a group of inherited diseases of the central nervous system. It is one of the CAG repeat/polyglutamine disorders. SCA6 is caused by a ...
Related Pictures
★リンクテーブル★
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- 英
- triplet repeat disease
- 同
- トリヌクレオチドリピート病 trinucleotide repeat disorder、リピート伸長病 repeat expansion disease、3塩基繰り返し病、トリプレット反復病 triplet repeat disease
- 関
- 3塩基のリピートが翻訳領域に反復して現れることにより、発病機構は不明であるが発病する疾病を総称して言う。
- 下位の疾病概念にポリグルタミン病、CAGリピート病がある。
- ポリグルタミン病の中にハンチントン舞踏病が含まれる。
特徴
- 発症前診断
- 促通現象
- 体細胞モザイク
- gain of function
- 多くが優性遺伝で成人発症
- 神経系の変性疾患
トリプレットリピート病
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脊髄小脳失調症1型、脊髄小脳変性症1型
- 関
- dominantly-inherited spinocerebellar ataxia、SCA1、spinocerebellar ataxia、spinocerebellar ataxia type 2、spinocerebellar ataxia type 4、spinocerebellar ataxia type 5、spinocerebellar ataxia type 6、spinocerebellar ataxia type 7、spinocerebellar atrophy
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脊髄小脳失調症2型
- 関
- dominantly-inherited spinocerebellar ataxia、spinocerebellar ataxia、spinocerebellar ataxia type 1、spinocerebellar ataxia type 4、spinocerebellar ataxia type 5、spinocerebellar ataxia type 6、spinocerebellar ataxia type 7、spinocerebellar atrophy
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脊髄小脳失調症4型
- 関
- dominantly-inherited spinocerebellar ataxia、spinocerebellar ataxia、spinocerebellar ataxia type 1、spinocerebellar ataxia type 2、spinocerebellar ataxia type 5、spinocerebellar ataxia type 6、spinocerebellar ataxia type 7、spinocerebellar atrophy
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脊髄小脳失調症5型
- 関
- dominantly-inherited spinocerebellar ataxia、spinocerebellar ataxia、spinocerebellar ataxia type 1、spinocerebellar ataxia type 2、spinocerebellar ataxia type 4、spinocerebellar ataxia type 6、spinocerebellar ataxia type 7、spinocerebellar atrophy
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- (windows)ファイル内容表示(linux -> cat])
- ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
- 関
- form、mode、pattern、type specimen、typed
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脊髄小脳変性症 spinocerebellar degeneration SCD = SCA
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- 関
- form、mode、pattern、type
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