Calakos Nicole, Zech Michael
Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA.
Department of Neurobiology, Duke University Medical Center, Durham, North Carolina, USA.
Mov Disord. 2025 Jan;40(1):7-21. doi: 10.1002/mds.30037. Epub 2024 Oct 28.
Advances in genetic technologies and disease modeling have greatly accelerated the pace of introducing and validating molecular-genetic contributors to disease. In dystonia, there is a growing convergence across multiple distinct forms of the disease onto core biological processes. Here, we discuss two of these, the endosome-autophagosome-lysosome pathway and the integrated stress response, to highlight recent advances in the field. Using these two pathomechanisms as examples, we further discuss the opportunities that molecular-genetic grouping of dystonias present to transform dystonia care. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
基因技术和疾病建模的进展极大地加快了引入和验证疾病分子遗传因素的步伐。在肌张力障碍中,多种不同形式的疾病正日益汇聚到核心生物学过程。在此,我们讨论其中的两个过程,即内体-自噬体-溶酶体途径和综合应激反应,以突出该领域的最新进展。以这两种病理机制为例,我们进一步讨论肌张力障碍的分子遗传学分组为转变肌张力障碍治疗带来的机遇。© 2024作者。《运动障碍》由Wiley Periodicals LLC代表国际帕金森病和运动障碍协会出版。