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.

中文翻译：

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肌张力障碍中新兴的分子遗传家族：内体-自噬体-溶酶体和综合应激反应途径


遗传技术和疾病建模的进步大大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越来越趋同到核心生物过程。在这里，我们讨论了其中两个，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，我们进一步讨论了肌张力障碍的分子遗传分组为改变肌张力障碍护理提供的机会。© 2024 作者。由 Wiley Periodicals LLC 代表国际帕金森和运动障碍协会出版的《运动障碍》。