PDF(Pubmed)
Abstract：
Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.
摘要：
临床病例研究和报告对于发现新的疾病和医学科学的进步很重要。临床医生和基础科学家都扮演着同样重要的角色，导致治疗方法和症状的发现。在运动障碍领域，临床医生对患者的特殊观察势在必行，不仅对于现象学，而且对于这些疾病的可变发生也是如此，以及其他体征和症状，全天和疾病过程。成立了亚洲运动障碍工作队（TF），以帮助加强和促进该地区运动障碍的合作和研究。作为一个开始,TF回顾了该地区初步描述的运动障碍的原始研究。其中包括在亚洲首次描述的九种疾病-Segawa病，PARK-Parkin,X连锁肌张力障碍-帕金森病（XDP），牙齿-苍白萎缩（DRPLA），伍德豪斯-萨卡蒂综合征,良性成人家族性肌阵挛性癫痫（BAFME），Kufor-Rakeb病,与钙调蛋白结合转录激活因子2（CAMTA2）基因突变相关的震颤性肌张力障碍，和阵发性运动障碍（PKD）。我们希望提供的信息将尊重原始研究人员，并帮助我们学习和理解早期的神经学家和基础科学家如何共同发现新的疾病并在该领域取得进展，影响我们所有人直到今天。
