spinocerebellar ataxia type 1

出典: meddic

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

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英文文献

  • The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
  • Maresca A, la Morgia C, Caporali L, Valentino ML, Carelli V.SourceIRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy.
  • Molecular and cellular neurosciences.Mol Cell Neurosci.2013 Jul;55:62-76. doi: 10.1016/j.mcn.2012.08.004. Epub 2012 Aug 15.
  • Retinal ganglion cells (RGCs) project their long axons, composing the optic nerve, to the brain, transmitting the visual information gathered by the retina, ultimately leading to formed vision in the visual cortex. The RGC cellular system, representing the anterior part of the visual pathway, is vul
  • PMID 22960139
  • H1152 promotes the degradation of polyglutamine-expanded ataxin-3 or ataxin-7 independently of its ROCK-inhibiting effect and ameliorates mutant ataxin-3-induced neurodegeneration in the SCA3 transgenic mouse.
  • Wang HL, Hu SH, Chou AH, Wang SS, Weng YH, Yeh TH.SourceDepartment of Physiology and Pharmacology, Chang Gung University School of Medicine, 259 Wen-Hwa 1 Road, Kwei-San, Tao-Yuan, Taiwan, ROC. Electronic address: hlwns@mail.cgu.edu.tw.
  • Neuropharmacology.Neuropharmacology.2013 Jul;70:1-11. doi: 10.1016/j.neuropharm.2013.01.006. Epub 2013 Jan 21.
  • Spinocerebellar ataxia type 3 (SCA3) caused by polyglutamine-expanded ataxin-3 is the most prevalent subtype of spinocerebellar ataxias. A compound, which decreases protein level of mutant ataxin-3 in SCA3 affected CNS regions, should be a promising therapeutic agent for SCA3. SCA3 and Huntington's
  • PMID 23347954
  • Aggregation of polyQ-extended proteins is promoted by interaction with their natural coiled-coil partners.
  • Petrakis S, Schaefer MH, Wanker EE, Andrade-Navarro MA.SourceNeuroproteomics, Max Delbrueck, Center for Molecular Medicine, Berlin, Germany; Aristotle University of Thessaloniki, Thessaloniki, Greece.
  • BioEssays : news and reviews in molecular, cellular and developmental biology.Bioessays.2013 Jun;35(6):503-7. doi: 10.1002/bies.201300001. Epub 2013 Mar 11.
  • Polyglutamine (polyQ) diseases are genetically inherited neurodegenerative disorders. They are caused by mutations that result in polyQ expansions of particular proteins. Mutant proteins form intranuclear aggregates, induce cytotoxicity and cause neuronal cell death. Protein interaction data suggest
  • PMID 23483542
  • Expression of Expanded CAG Transcripts Triggers Nucleolar Stress in Huntington's Disease.
  • Tsoi H, Chan HY.SourceLaboratory of Drosophila Research, School of Life Sciences, Faculty of Science, The Chinese University of Hong Kong, Shatin, N.T., Hong Kong, China.
  • Cerebellum (London, England).Cerebellum.2013 Jun;12(3):310-2. doi: 10.1007/s12311-012-0447-6.
  • Polyglutamine (polyQ) diseases, including several types of spinocerebellar ataxias and Huntington's disease (HD), are dominantly inherited neurodegenerative disorders caused by the expansion of the glutamine-coding CAG repeat in the open reading frame of the disease gene. Apart from being translated
  • PMID 23315009

和文文献

  • 症例報告 痙性対麻痺様の症候を呈した脊髄小脳失調症2型の1例
  • 宮地 洋輔,土井 宏,児矢野 繁 [他]
  • 臨床神経学 50(9), 641-644, 2010-09
  • NAID 40017328813
  • Congo Red, an Amyloid-Inhibiting Compound, Alleviates Various Types of Cellular Dysfunction Triggered by Mutant Protein Kinase Cγ That Causes Spinocerebellar Ataxia Type 14 (SCA14) by Inhibiting Oligomerization and Aggregation
  • Seki Takahiro,Takahashi Hideyuki,Yamamoto Kazuhiro [他],Ogawa Kota,Onji Tomoya,Adachi Naoko,Tanaka Shigeru,Hide Izumi,Saito Naoaki,Sakai Norio
  • Journal of Pharmacological Sciences advpub(0), 1010010456, 2010
  • … Several missense mutations in the protein kinase Cγ (γPKC) gene have been found to cause spinocerebellar ataxia type 14 (SCA14), an autosomal dominant neurodegenerative disease. …
  • NAID 130000439860
  • Prevalence of Autosomal Dominant Cerebellar Ataxia in Aomori, the Northernmost Prefecture of Honshu, Japan
  • Yamamoto-Watanabe Yukiko,Watanabe Mitsunori,Hikichi Motofumi,Ikeda Yoshio,Jackson Mandy,Wakasaya Yasuhito,Matsubara Etsuro,Kawarabayashi Takeshi,Kannari Kazuya,Shoji Mikio
  • Internal Medicine 49(22), 2409-2414, 2010
  • … Objective The frequency of autosomal dominant cerebellar ataxia (ADCA) varies between different regions of Japan. … Methods and Patients Sixty-five familial spinocerebellar ataxia (SCA) patients and 15 sporadic SCA patients were genetically examined. … Results Spinocerebellar ataxia (SCA) type 6 was often observed (77.7% of cases), with SCA2 (10.6% of cases) being the next most common form. …
  • NAID 130000413368

関連リンク

Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and ...
NATIONALF ATAAXIAQ FOUNDATION What is spinocerebellar ataxia type 1? Spinocerebellar ataxia type 1 (SCA1) is one specific type of ataxia among a group of inherited diseases of the central nervous system. In SCA1, genetic ...
164400 - SPINOCEREBELLAR ATAXIA 1; SCA1 - SPINOCEREBELLAR ATROPHY I;; OLIVOPONTOCEREBELLAR ATROPHY I; OPCA1;; OPCA I;; CEREBELLOPARENCHYMAL DISORDER I; CPD1;; MENZEL TYPE ...

関連画像

Ataxia Type 1; Spinocerebellar Ataxia Type Ataxia Type 1; Spinocerebellar Ataxia Type Spinocerebellar ataxia type 1spinocerebellar-ataxia-1-1-728.jpg?cb Spinocerebellar Ataxia Type 1 | JPNDSpinocerebellar Ataxia Type 1 - Neurowiki Spinocerebellar ataxia type-6


★リンクテーブル★
先読みspinocerebellar ataxia
リンク元脊髄小脳失調症1型」「spinocerebellar ataxia type 4」「spinocerebellar ataxia type 6」「spinocerebellar ataxia type 7」「spinocerebellar ataxia type 2
関連記事type」「ataxia」「typing」「spinocerebellar ataxia」「typed

spinocerebellar ataxia」

  [★] 脊髄小脳変性症 spinocerebellar degeneration SCD = SCA


脊髄小脳失調症1型」

  [★]

spinocerebellar ataxia type 1
脊髄小脳変性症脊髄小脳変性症1型脊髄小脳失調症2型脊髄小脳失調症7型脊髄小脳失調症4型脊髄小脳失調症5型脊髄小脳失調症6型脊髄小脳萎縮症優性遺伝性脊髄小脳失調症


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


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 7」

  [★]

脊髄小脳失調症7型

dominantly-inherited spinocerebellar ataxiaspinocerebellar ataxiaspinocerebellar ataxia type 1spinocerebellar ataxia type 2spinocerebellar ataxia type 4spinocerebellar ataxia type 5spinocerebellar ataxia type 6spinocerebellar 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

type」

  [★]

  • n.
(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
formmodepatterntype specimentyped

WordNet   license wordnet

「write by means of a keyboard with types; "type the acceptance letter, please"」
typewrite

WordNet   license wordnet

「(biology) the taxonomic group whose characteristics are used to define the next higher taxon」

WordNet   license wordnet

「a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"」

WordNet   license wordnet

「all of the tokens of the same symbol; "the word `element'' contains five different types of character"」

WordNet   license wordnet

「printed characters; "small type is hard to read"」

PrepTutorEJDIC   license prepejdic

「〈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」

WordNet   license wordnet

「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"」

WordNet   license wordnet

「identify as belonging to a certain type; "Such people can practically be typed"」
typecast


ataxia」

  [★] 運動失調

WordNet   license wordnet

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

typing」

  [★]

  • n.
  • タイプで打つこと、タイピング。分類


WordNet   license wordnet

「writing done with a typewriter」
typewriting


spinocerebellar ataxia」

  [★] 脊髄小脳変性症 spinocerebellar degeneration SCD = SCA


typed」

  [★]

  • adj.
  • 型の
formmodepatterntype




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