遺伝性脊髄性運動失調症
WordNet
- work natural fibers into a thread; "spin silk"
- prolong or extend; "spin out a visit" (同)spin out
- the act of rotating rapidly; "he gave the crank a spin"; "it broke off after much twisting" (同)twirl, twist, twisting, whirl
- a distinctive interpretation (especially as used by politicians to sway public opinion); "the campaign put a favorable spin on the story"
- a short drive in a car; "he took the new car for a spin"
- a swift whirling motion (usually of a missile)
- revolve quickly and repeatedly around ones own axis; "The dervishes whirl around and around without getting dizzy" (同)spin around, whirl, reel, gyrate
- form a web by making a thread; "spiders spin a fine web"
- make up a story; "spin a yarn"
- stream in jets, of liquids; "The creek spun its course through the woods"
- twist and turn so as to give an intended interpretation; "The Presidents spokesmen had to spin the story to make it less embarrassing"
- of or relating to the spine or spinal cord; "spinal cord"; "spinal injury"
- inability to coordinate voluntary muscle movements; unsteady movements and staggering gait (同)ataxy, dyssynergia, motor_ataxia
PrepTutorEJDIC
- (羊毛などから)〈糸など〉‘を'『紡ぐ』《+『名』+『out of』+『名』〈羊毛〉》,(糸などに)〈羊毛など〉‘を'紡ぐ《+『名』〈羊毛〉+『into』+『名』》 / 〈クモ・カイコなどが〉〈糸〉‘を'『吐く』;〈巣・繭〉‘を'かける / …‘を'くるくる回す / 〈物語など〉‘を'作る,話す / 『糸を紡ぐ』;〈クモ・カイコなどが〉糸を吐く / 〈こまなどが〉くるくる回る / 〈車などが〉疾走する / 〈頭などが〉くらくらする / 〈C〉〈U〉くるくる回すこと;回転 / 〈C〉《単数形で》(車などの)一走り / 〈C〉(飛行機の)きりもみ降下 / 〈C〉《単数形で》(価値などの)急落
- 背骨の / せき髄麻酔
- 世襲の,親譲りの / 遺伝的な,遺伝性の
UpToDate Contents
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English Journal
- Decreased functional brain activation in Friedreich ataxia using the Simon effect task.
- Georgiou-Karistianis N, Akhlaghi H, Corben LA, Delatycki MB, Storey E, Bradshaw JL, Egan GF.SourceExperimental Neuropsychology Research Unit, School of Psychology and Psychiatry, Monash University, Clayton 3800, Victoria, Australia. nellie.georgiou-karistianis@monash.edu
- Brain and cognition.Brain Cogn.2012 Aug;79(3):200-8. Epub 2012 Apr 28.
- The present study applied the Simon effect task to examine the pattern of functional brain reorganization in individuals with Friedreich ataxia (FRDA), using functional magnetic resonance imaging (fMRI). Thirteen individuals with FRDA and 14 age and sex matched controls participated, and were requir
- PMID 22542844
- Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions.
- Ashley CN, Hoang KD, Lynch DR, Perlman SL, Maria BL.AbstractChildhood ataxia is characterized by impaired balance and coordination primarily because of cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on the first intron of the frataxin gene on chromosome 9. Mutations in the frataxin gene impair mitochondrial function, increase reactive oxygen species, and trigger redistribution of iron in the mitochondria and cytosol. Targeted therapies for Friedreich ataxia are undergoing testing. In addition, a centralized database, patient registry, and natural history study have been launched to support clinical trials in Friedreich ataxia. The 2011 Neurobiology of Disease in Children symposium, held in conjunction with the 40th annual Child Neurology Society meeting, aimed to (1) describe clinical features surrounding Friedreich ataxia, including cardiomyopathy and genetics; (2) discuss recent advances in the understanding of the pathogenesis of Friedreich ataxia and developments of clinical trials; (3) review new investigations of characteristic symptoms; and (4) establish clinical and biochemical overlaps in neurodegenerative diseases and possible directions for future basic, translational, and clinical studies.
- Journal of child neurology.J Child Neurol.2012 Aug 1. [Epub ahead of print]
- Childhood ataxia is characterized by impaired balance and coordination primarily because of cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on
- PMID 22859693
Japanese Journal
- パピオン犬およびパピオン関連犬種における神経軸索ジストロフィーと小脳皮質アビオトロフィーの臨床・病理所見(病理学)
- The journal of veterinary medical science 69(10), 1047-1052, 2007-10-25
- NAID 110006418724
- パピオン犬およびパピオン関連犬種における神経軸索ジストロフィーと小脳皮質アビオトロフィーの臨床・病理所見(病理学)
- 脊髄小脳変性症の遺伝子型と眼球運動障害についての検討
Related Links
- Abstract • Hereditary Ataxia • Types of Hereditary Ataxia • Evaluation Strategy • Genetic Counseling • Management • Disclosure • References • Acknowledgments • Author information The hereditary ataxias are a ...
- The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum 2005; 4:2. Schöls L, Szymanski S, Peters S, et al. Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet 2000; 107:132. ...
★リンクテーブル★
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- 英
- Friedreich's ataxia Friedreich ataxia FA
- 同
- フリードライヒ失調症, Friedreich運動失調症, Friedreich失調症,Friedreich病, フリードライヒ病 Friedreich disease、遺伝性脊髄性運動失調症 hereditary spinal ataxia
- 関
- 脊髄小脳変性症
概念
病因
- FRDA(9q13)のfrataxin遺伝子におけるGAAリピートの増加あるいは点変異。
疫学
遺伝形式
病理
- (1)脊髄後角、(2)脊髄小脳路、(3)錐体路の変性、(4)後根神経節、後根、末梢神経
- 後索、皮質脊髄路、脊髄小脳路に変性 (BET.335)
症状
- 下肢優位の後索症状、後根障害による反射消失
- Babinski徴候、構音障害、知能障害、拡張型心筋症、足変形、脊柱側彎が高率に見られる。(BET.244)
- 初発症状:深部覚障害による失調性歩行。四肢末梢の筋萎縮、深部知覚障害(振動覚減弱)
- 慢性・進行性・左右対称性
- 運動失調は下肢から上肢に進展。運動失調は脊髄性に小脳性が加わってくる。
- 下肢の運動失調 → 足の変形 → 上肢の運動失調 → 失調性構音障害、眼振(YN.J-127)
- 2. 末梢神経障害: 後根の障害による。反射弓が障害されるので反射が消失する ex. 膝蓋腱反射の消失
- 3. 錐体路の障害: 原始反射出現。腱反射亢進
- 4. そのほか、心筋障害、糖尿病、知能低下、眼振、視神経萎縮、骨格の変形
検査
診断
治療
予後
- 緩徐に進行し20-25歳で運動不能(YN.J-127)
予防
参考
- http://www.nurs.or.jp/~academy/igaku/s7/s7431.htm
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- 英
- hereditary spinal ataxia, spinal heredoataxia
- 関
- フリードライヒ病
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- 関
- heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited
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- 関
- dorsal spine、rachis、spinal column、spinal cord、spine、vertebral column
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