Department of Neurology, University of Tennessee Health Science Center Memphis, Tennessee 38163, USA.
Mov Disord. 2013 Jun 15;28(7):968-81. doi: 10.1002/mds.25547.
The dystonias are a group of hyperkinetic movement disorders whose principal cause is neuron dysfunction at 1 or more interconnected nodes of the motor system. The study of genes and proteins that cause familial dystonia provides critical information about the cellular pathways involved in this dysfunction, which disrupts the motor pathways at the systems level. In recent years study of the increasing number of DYT genes has implicated a number of cell functions that appear to be involved in the pathogenesis of dystonia. A review of the literature published in English-language publications available on PubMed relating to the genetics and cellular pathology of dystonia was performed. Numerous potential pathogenetic mechanisms have been identified. We describe those that fall into 3 emerging thematic groups: cell-cycle and transcriptional regulation in the nucleus, endoplasmic reticulum and nuclear envelope function, and control of synaptic function. © 2013 Movement Disorder Society.
肌张力障碍是一组由运动系统中 1 个或多个相互连接的神经元功能障碍引起的运动障碍。研究导致家族性肌张力障碍的基因和蛋白质为我们提供了关于细胞通路的关键信息，这些通路在系统水平上破坏了运动通路。近年来，对越来越多的 DYT 基因的研究表明，许多细胞功能似乎与肌张力障碍的发病机制有关。我们对在 PubMed 上可获取的英文文献中关于肌张力障碍的遗传学和细胞病理学的研究进行了综述。现已确定了许多潜在的发病机制。我们描述了属于 3 个新兴主题组的那些机制：核内细胞周期和转录调控、内质网和核膜功能以及突触功能的控制。 © 2013 运动障碍协会。
