首页> 外文期刊>Journal of neurogenetics >Dopamine DRD2 polymorphism (DRD2/ANNK1-Taq1A) is not a significant risk factor in writer's cramp
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Dopamine DRD2 polymorphism (DRD2/ANNK1-Taq1A) is not a significant risk factor in writer's cramp

机译:多巴胺DRD2多态性(DRD2 / ANNK1-TAQ1A)不是作家痉挛的重要风险因素

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摘要

Writers' cramp is a movement disorder with dystonic co-contraction of fingers and hand during writing and is part of the clinical spectrum of focal dystonias. Previous studies showed reduced striatal dopamine receptor D2 (DRD2) availability in dystonia. The expression of D2 receptors is modulated by a DRD2/ANKK1-Taq1A polymorphism (rs1800497). This study addresses the question of whether the DRD2/ANKK1-Taq1A polymorphism is a risk factor for writer's cramp. We determined the DRD2/ANKK1-Taq1A polymorphism 34 patients with writer's cramp compared to 67 age matched controls. 35.3% of the patients and 31.3% of our controls were assigned to the A1 genotype status (p = .7). Therefore DRD2/ANKK1-Taq1A gene is not a significant risk factor in the evolution of writer's cramp.
机译:作家痉挛是一种运动障碍,在写作过程中手指和手的张力性共同收缩异常,是局部张力障碍临床谱的一部分。先前的研究表明,肌张力障碍患者纹状体多巴胺受体D2(DRD2)的可用性降低。D2受体的表达受DRD2/ANKK1-Taq1A多态性(rs1800497)的调控。这项研究探讨了DRD2/ANKK1-Taq1A多态性是否是作家抽筋的风险因素的问题。我们测定了34例书写痉挛患者与67例年龄匹配的对照组的DRD2/ANKK1-Taq1A多态性。35.3%的患者和31.3%的对照组被分配到A1基因型状态(p=0.7)。因此,DRD2/ANKK1-Taq1A基因不是作家抽筋进化的重要危险因素。

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