多巴胺DRD2基因多态性（DRD2/ANK1-Taq1A）并非书写痉挛的显著风险因素。
Dopamine DRD2 polymorphism (DRD2/ANNK1-Taq1A) is not a significant risk factor in writer's cramp.
作者信息
Zeuner Kirsten E, Acewicz Albert, Knutzen Arne, Dressler Dirk, Lohmann Katja, Witt Karsten
机构信息
a Department of Neurology , University of Kiel , Germany.
b First Department of Neurology , Institute of Psychiatry and Neurology , Warsaw , Poland.
出版信息
J Neurogenet. 2016 Sep-Dec;30(3-4):276-279. doi: 10.1080/01677063.2016.1238916. Epub 2016 Oct 4.
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.
书写痉挛是一种运动障碍，表现为书写时手指和手部的肌张力障碍性共同收缩，是局限性肌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D2受体（DRD2）可用性降低。D2受体的表达受DRD2/ANKK1 - Taq1A多态性（rs1800497）调控。本研究探讨DRD2/ANKK1 - Taq1A多态性是否为书写痉挛的危险因素。我们测定了34例书写痉挛患者与67例年龄匹配对照者的DRD2/ANKK1 - Taq1A多态性。35.3%的患者和31.3%的对照者被归为A1基因型状态（p = 0.7）。因此，DRD2/ANKK1 - Taq1A基因在书写痉挛的发病过程中并非显著的危险因素。
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