Although dystonia represents the third most common movement disorder, its pathophysiology remains still poorly understood. In the past two decades, multiple models have been generated, improving our knowledge on the molecular and cellular bases of this heterogeneous group of movement disorders. In this short survey, we will focus on recently generated novel models of DYT1 dystonia, the most common form of genetic, "isolated" dystonia. These models clearly indicate the existence of multiple signaling pathways affected by the protein mutation causative of DYT1 dystonia, torsinA, paving the way for potentially multiple, novel targets for pharmacological intervention.

中文翻译：

---

肌张力障碍模型：更新。

尽管肌张力障碍是第三大最常见的运动障碍，但其病理生理学仍知之甚少。在过去的二十年中，已经产生了多种模型，从而提高了我们对这组异类运动障碍的分子和细胞基础的认识。在这次简短的调查中，我们将重点介绍DYT1肌张力障碍的最新模型，DYT1肌张力障碍是遗传的“分离的”肌张力障碍的最常见形式。这些模型清楚地表明，存在多种信号通路，这些信号通路受DYT1肌张力障碍蛋白TorsinA的蛋白质突变所致，为潜在的多种新型药理干预目标铺平了道路。