Jinnah H A, Neychev Vladimir, Hess Ellen J
Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, GA, USA.
Department of Surgery, University Multiprofile Hospital for Active Treatment "Alexandrovska", Medical University of Sofia, Sofia, Bulgaria.
Tremor Other Hyperkinet Mov (N Y). 2017 Oct 23;7:506. doi: 10.7916/D8V69X3S. eCollection 2017.
The dystonias include a clinically and etiologically very diverse group of disorders. There are both degenerative and non-degenerative subtypes resulting from genetic or acquired causes. Traditionally, all dystonias have been viewed as disorders of the basal ganglia. However, there has been increasing appreciation for involvement of other brain regions including the cerebellum, thalamus, midbrain, and cortex. Much of the early evidence for these other brain regions has come from studies of animals, but multiple recent studies have been done with humans, in an effort to confirm or refute involvement of these other regions. The purpose of this article is to review the new evidence from animals and humans regarding the motor network model, and to address the issues important to translational neuroscience.
The English literature was reviewed for articles relating to the neuroanatomical basis for various types of dystonia in both animals and humans.
There is evidence from both animals and humans that multiple brain regions play an important role in various types of dystonia. The most direct evidence for specific brain regions comes from animal studies using pharmacological, lesion, or genetic methods. In these studies, experimental manipulations of specific brain regions provide direct evidence for involvement of the basal ganglia, cerebellum, thalamus and other regions. Additional evidence also comes from human studies using neuropathological, neuroimaging, non-invasive brain stimulation, and surgical interventions. In these studies, the evidence is less conclusive, because discriminating the regions that cause dystonia from those that reflect secondary responses to abnormal movements is more challenging.
Overall, the evidence from both animals and humans suggests that different regions may play important roles in different subtypes of dystonia. The evidence so far provides strong support for the motor network model. There are obvious challenges, but also advantages, of attempting to translate knowledge gained from animals into a more complete understanding of human dystonia and novel therapeutic strategies.
肌张力障碍包括一组临床和病因学上非常多样的疾病。存在由遗传或后天原因导致的退行性和非退行性亚型。传统上，所有肌张力障碍都被视为基底神经节疾病。然而，人们越来越认识到其他脑区也参与其中，包括小脑、丘脑、中脑和皮层。关于这些其他脑区的许多早期证据来自动物研究，但最近已经对人类进行了多项研究，以证实或反驳这些其他区域的参与情况。本文的目的是回顾来自动物和人类的关于运动网络模型的新证据，并探讨对转化神经科学很重要的问题。
查阅英文文献，寻找与动物和人类各种类型肌张力障碍的神经解剖学基础相关的文章。
来自动物和人类的证据都表明，多个脑区在各种类型的肌张力障碍中起重要作用。特定脑区的最直接证据来自使用药理学、损伤或遗传学方法的动物研究。在这些研究中，对特定脑区的实验操作提供了基底神经节、小脑、丘脑和其他区域参与的直接证据。额外的证据也来自使用神经病理学、神经影像学、非侵入性脑刺激和手术干预的人类研究。在这些研究中，证据的确定性较低，因为区分导致肌张力障碍的区域与那些反映对异常运动的继发反应的区域更具挑战性。
总体而言，来自动物和人类的证据表明，不同区域可能在不同亚型的肌张力障碍中发挥重要作用。迄今为止的证据为运动网络模型提供了有力支持。将从动物身上获得的知识转化为对人类肌张力障碍更全面的理解和新的治疗策略，存在明显的挑战，但也有优势。
