- 関
- ataxia、dyssynergia、incoordination、lack of coordination、limb ataxia、motor ataxia、sensory ataxia、truncal ataxia
WordNet
- a lack of coordination of movements
- inability to coordinate voluntary muscle movements; unsteady movements and staggering gait (同)ataxy, dyssynergia, motor_ataxia
- relating to or consisting of an appendage or appendages; especially the limbs; "the appendicular skeleton"
UpToDate Contents
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- 1. 急性運動失調を呈する小児に対するアプローチ approach to the child with acute ataxia
- 2. 遺伝性運動失調の概要 overview of the hereditary ataxias
- 3. フリードライヒ失調症 friedreich ataxia
- 4. 毛細血管拡張性運動失調症 ataxia telangiectasia
- 5. 急性小脳性運動失調 acute cerebellar ataxia
English Journal
- FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.
- Solvsten C, Nielsen AL.AbstractThe Fragile X mental retardation (FMR1) gene contains a polymorphic CGG trinucleotide repeat in the 5'-untranslated region. The repeat length in the normal population is between 5 and 54 repeats. A repeat length between 55 and 200 is defined as the pre-mutation repeat size. Elderly carriers of the pre-mutation can develop the progressive neurodegenerative disease Fragile X-associated tremor/ataxia syndrome (FXTAS). In FXTAS the FMR1 mRNA levels are increased and it is hypothesized that FXTAS is caused by a RNA gain of function mechanism. Repeat lengths beyond 200 CGGs are defined as the full-mutation and causes Fragile X-syndrome which is the most common inherited form of mental retardation. The full-mutation results in the absence of the FMR1 mRNA and protein, FMRP, through abnormal CpG methylation and FMR1 gene silencing. In this report we have used the Flp-In T-REx system to generate locus directed stable cell lines harboring the FMR1 5'-UTR with varying CGG repeat lengths in front of a reporter gene. By this system the influence of various CGG repeat lengths for reporter gene expression can be comparatively examined in cell lines where the only genetic difference is CGG repeat lengths. In such cell lines we find that a full-mutation CGG repeat confers inhibition of reporter gene expression, whereas a pre-mutation CGG repeat did not increase reporter gene expression. In transient transfection assays using the same expression vectors the pre-mutation and full-mutation CGG repeats increased reporter gene expression. This study shows that locus directed integration of model FMR1 CGG transgenes could be a new basic tool to further elucidating the basic molecular mechanisms behind transcriptional deregulation of the FMR1 gene in fragile X-syndrome and FXTAS.
- Gene.Gene.2011 Oct 15;486(1-2):15-22. Epub 2011 Jul 13.
- The Fragile X mental retardation (FMR1) gene contains a polymorphic CGG trinucleotide repeat in the 5'-untranslated region. The repeat length in the normal population is between 5 and 54 repeats. A repeat length between 55 and 200 is defined as the pre-mutation repeat size. Elderly carriers of the p
- PMID 21767618
- Slow-progressive ataxia with a methionine-to-arginine point mutation in codon 232 in the prion protein gene (PRNP).
- Nishimoto Y, Ito D, Suzuki S, Shimizu T, Kitamoto T, Suzuki N.SourceDepartment of Neurology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
- Clinical neurology and neurosurgery.Clin Neurol Neurosurg.2011 Oct;113(8):696-8. Epub 2011 May 28.
- PMID 21620563
Related Links
- Appendicular Ataxia defined on the Free Online Medical Dictionary. Medical terminology definitions including drugs, abbreviations, equipment, devices, and more from almost all medical specialties. Online-Medical-Dictionary.org.
Related Pictures
★リンクテーブル★
| リンク元 | 「dyssynergia」「incoordination」「lack of coordination」「四肢失調」「motor ataxia」 |
「dyssynergia」
- 関
- appendicular ataxia、asynergia、asynergy、ataxia、dyssynergic、incoordination、lack of coordination、limb ataxia、motor ataxia、sensory ataxia、truncal ataxia
「incoordination」
- n.
- 関
- appendicular ataxia、ataxia、dyssynergia、lack of coordination、limb ataxia、motor ataxia、sensory ataxia、truncal ataxia
「lack of coordination」
- 関
- appendicular ataxia、ataxia、dyssynergia、incoordination、limb ataxia、motor ataxia、sensory ataxia、truncal ataxia