spinocerebellar ataxia

出典: meddic

脊髄小脳変性症 spinocerebellar degeneration SCD = SCA

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英文文献

  • Toxic effects of expanded ataxin-1 involve mechanical instability of the nuclear membrane.
  • Mapelli L, Canale C, Pesci D, Averaimo S, Guizzardi F, Fortunati V, Falasca L, Piacentini M, Gliozzi A, Relini A, Mazzanti M, Jodice C.SourceDepartment of Biomolecular Science and Biotechnology, University of Milan, Milan, Italy.
  • Biochimica et biophysica acta.Biochim Biophys Acta.2012 Jun;1822(6):906-17. Epub 2012 Feb 4.
  • Ataxin 1 (ATXN1) is the protein involved in spinocerebellar ataxia type 1, one of nine dominantly inherited neurodegenerative diseases triggered by polyglutamine expansion. One of the isolated polyglutamine tracts properties is to interact with lipid bilayers. Here we used a multidisciplinary approa
  • PMID 22330095
  • Identification and quantification of differentially expressed proteins in plasma of spinocerebellar ataxia type 12.
  • Swarup V, Srivastava AK, Rajeswari MR.SourceDepartment of Biochemistry, All India Institute of Medical Sciences, New Delhi, India.
  • Neuroscience research.Neurosci Res.2012 Jun;73(2):161-7. Epub 2012 Mar 16.
  • Spinocerebellar ataxia 12 (SCA12) is a unique dominant type of ataxia characterized by early and prominent action tremors, memory deficit, neuropathy, dysarthria, etc. The expansion of DNA triplet (CAG) repeats in 5'UTR of PPP2R2B gene appears to be the cause for the pathogenesis of the neurodegener
  • PMID 22426495

和文文献

  • 症例報告 初期には脊髄小脳変性症と診断され,オリーブ・橋・小脳病変が高度であった進行性核上性麻痺の1剖検例
  • 岩崎 靖,森 恵子,伊藤 益美 [他]
  • 臨床神経学 51(10), 756-760, 2011-10
  • NAID 40019031123
  • Elucidation of the Molecular Mechanism and Exploration of Novel Therapeutics for Spinocerebellar Ataxia Caused by Mutant Protein Kinase Cγ
  • SEKI Takahiro,ADACHI Naoko,ABE SEKI Nana,SHIMAHARA Takayuki,TAKAHASHI Hideyuki,YAMAMOTO Kazuhiro,SAITO Naoaki,SAKAI Norio
  • Journal of pharmacological sciences 116(3), 239-247, 2011-07-20
  • NAID 10029894921

関連リンク

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. National Center for Biotechnology Information (US). Genes and Disease ... Persons with spinocerebellar ataxia experience a degeneration of ...
Spinocerebellar ataxia. 587 likes · 3 talking about this. Spinocerebellar ataxia is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right. An estimated 150,000 ...

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★リンクテーブル★
先読みSCD」「spinocerebellar degeneration
リンク元オリーブ橋小脳萎縮症」「脊髄小脳変性症」「SCA」「spinocerebellar ataxia type 6」「spinocerebellar ataxia type 2
拡張検索spinocerebellar ataxia type 1」「spinocerebellar ataxia type 4」「polyneuritic hereditary spinocerebellar ataxia
関連記事ataxia

SCD」

  [★]


spinocerebellar degeneration」

  [★] 脊髄小脳変性症 SCD

オリーブ橋小脳萎縮症」

  [★]

olivopontocerebellar atrophy, OPCA, olivopontocerebellar atrophies
デジュリーヌ・トーマ病 Dejerine-Thomas diseaseオリーブ・橋・小脳萎縮症 olivo-ponto-cerebellar atrophyオリーブ橋小脳変性症 olivopontocerebellar degeneration
spinocerebellar ataxia, SCA1多系統萎縮症脊髄小脳変性症

概念

脊髄小脳変性症との関係

多系統萎縮症

  小脳失調 自律神経症状 錐体外路症状
オリーブ橋小脳萎縮症 OPCA MSA-C
Shy-Drager症候群 SDS
線条体黒質変性症 SND MSA-P

症状

YN.J-124
  • 歩行障害→運動失調→平衡障害→構音障害
  • 1. 小脳症状
  • 2. 錐体路症状
  • 3. 錐体外路症状
  • 4. 自立心液晶状
  • 5. 知能低下

治療

予後(YN.J-124)

  • 緩徐進行。発症後5-10年で死亡

国試


脊髄小脳変性症」

  [★]

spinocerebellar degeneration SCD, spinocerebellar ataxia SCA
難病

概念

  • 特定疾患治療研究事業に指定される難病

分類

  • 二次性小脳皮質萎縮症
  • A. 常染色体優性遺伝型小脳失調症
  • spinocerebellar ataxia(SCA) type 1-17
  • B. 常染色体劣性遺伝型小脳失調症
  • C. 遺伝性周期性失調症

参考

  • 1. 脊髄小脳変性症 - 難病情報センター
  • [display]http://www.nanbyou.or.jp/entry/284



SCA」

  [★]


spinocerebellar ataxia type 6」

  [★]

脊髄小脳失調症6型

dominantly-inherited spinocerebellar ataxiaspinocerebellar ataxiaspinocerebellar ataxia type 1spinocerebellar ataxia type 2spinocerebellar ataxia type 4spinocerebellar ataxia type 5spinocerebellar ataxia type 7spinocerebellar atrophy


spinocerebellar ataxia type 2」

  [★]

脊髄小脳失調症2型

dominantly-inherited spinocerebellar ataxiaspinocerebellar ataxiaspinocerebellar ataxia type 1spinocerebellar ataxia type 4spinocerebellar ataxia type 5spinocerebellar ataxia type 6spinocerebellar ataxia type 7spinocerebellar atrophy

spinocerebellar ataxia type 1」

  [★]

脊髄小脳失調症1型脊髄小脳変性症1型

dominantly-inherited spinocerebellar ataxiaSCA1spinocerebellar ataxiaspinocerebellar ataxia type 2spinocerebellar ataxia type 4spinocerebellar ataxia type 5spinocerebellar ataxia type 6spinocerebellar ataxia type 7spinocerebellar atrophy

spinocerebellar ataxia type 4」

  [★]

脊髄小脳失調症4型

dominantly-inherited spinocerebellar ataxiaspinocerebellar ataxiaspinocerebellar ataxia type 1spinocerebellar ataxia type 2spinocerebellar ataxia type 5spinocerebellar ataxia type 6spinocerebellar ataxia type 7spinocerebellar atrophy

polyneuritic hereditary spinocerebellar ataxia」

  [★] 多発神経炎性遺伝性小脳性運動失調

ataxia」

  [★] 運動失調

WordNet   license wordnet

「inability to coordinate voluntary muscle movements; unsteady movements and staggering gait」
ataxy, dyssynergia, motor ataxia




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