亚洲首次描述的九种遗传性运动障碍:它们的历史和进化。

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS ACS Applied Bio Materials Pub Date : 2023-09-01 Epub Date: 2023-06-13 DOI:10.14802/jmd.23065
Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir S N AlDin, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri
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引用次数: 0

摘要

临床病例研究和报告对新疾病的发现和医学科学的进步至关重要。临床医生和基础科学家在发现治疗方法和症状方面发挥着同样重要的作用。在运动障碍领域,临床医生必须对患者进行特殊观察,这不仅是为了现象学,也是为了了解这些障碍以及其他体征和症状在一天中和整个病程中的变化情况。亚洲运动障碍特别工作组(TF)成立的目的是帮助加强和促进该地区对运动障碍的合作和研究。首先,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连锁肌张力障碍性帕金森病、齿下苍白球萎缩、Woodhouse-Sakati综合征、良性成人家族性肌阵挛性癫痫、Kufor-Rakeb病、与钙调素结合转录激活因子2基因突变相关的颤抖性肌张力障碍和阵发性运动性肌张力异常。我们希望所提供的信息将向最初的研究人员致敬,并帮助我们了解和理解早期的神经学家和基础科学家是如何共同发现新的疾病并在该领域取得进展的,这些疾病一直影响着我们。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.

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.

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来源期刊
ACS Applied Bio Materials
ACS Applied Bio Materials Chemistry-Chemistry (all)
CiteScore
9.40
自引率
2.10%
发文量
464
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