Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
The Edmond J. Safra Program in Parkinson's Disease and The Morton and Gloria Shulman Movement Disorder Clinic, Toronto Western Hospital, University of Toronto, Toronto, Canada.
Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28.
In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion-based list of confirmed monogenic movement disorders. Since then, a substantial number of novel disease-causing genes have been described, which warrant classification using this system. In addition, with this update, we further refined the system and propose dissolving the imaging-based categories of Primary Familial Brain Calcification and Neurodegeneration with Brain Iron Accumulation and reclassifying these genetic conditions according to their predominant phenotype. We also introduce the novel category of Mixed Movement Disorders (MxMD), which includes conditions linked to multiple equally prominent movement disorder phenotypes. In this article, we present updated lists of newly confirmed monogenic causes of movement disorders. We found a total of 89 different newly identified genes that warrant a prefix based on our criteria; 6 genes for parkinsonism, 21 for dystonia, 38 for dominant and recessive ataxia, 5 for chorea, 7 for myoclonus, 13 for spastic paraplegia, 3 for paroxysmal movement disorders, and 6 for mixed movement disorder phenotypes; 10 genes were linked to combined phenotypes and have been assigned two new prefixes. The updated lists represent a resource for clinicians and researchers alike and they have also been published on the website of the Task Force for the Nomenclature of Genetic Movement Disorders on the homepage of the International Parkinson and Movement Disorder Society (https://www.movementdisorders.org/MDS/About/Committees--Other-Groups/MDS-Task-Forces/Task-Force-on-Nomenclature-in-Movement-Disorders.htm). © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.
2016 年，运动障碍学会命名遗传运动障碍任务组提出了一个新的系统，用于命名遗传性运动障碍，并提供了一个基于标准的已确认的单基因运动障碍清单。此后，大量新的致病基因被描述出来，需要使用该系统进行分类。此外，通过本次更新，我们进一步完善了该系统，并建议解散基于影像学的原发性家族性脑钙化和神经铁沉积伴神经退行性变的类别，并根据其主要表型对这些遗传疾病进行重新分类。我们还引入了新的混合运动障碍（MxMD）类别，其中包括与多种同样突出的运动障碍表型相关的疾病。在本文中，我们提供了新的更新的运动障碍单基因病因列表。我们总共发现了 89 个不同的新基因，根据我们的标准，这些基因需要前缀；6 个帕金森病基因，21 个肌张力障碍基因，38 个显性和隐性共济失调基因，5 个舞蹈病基因，7 个肌阵挛基因，13 个痉挛性截瘫基因，3 个阵发性运动障碍基因，6 个混合运动障碍表型基因；10 个与混合表型相关的基因已被分配了两个新的前缀。这些更新的列表为临床医生和研究人员提供了一个资源，它们也已在运动障碍学会遗传运动障碍命名任务组的网站上发布，该网站是国际帕金森病和运动障碍学会的主页 (https://www.movementdisorders.org/MDS/About/Committees--Other-Groups/MDS-Task-Forces/Task-Force-on-Nomenclature-in-Movement-Disorders.htm)。© 2022 作者。运动障碍由 Wiley 期刊公司代表国际帕金森运动障碍学会出版。
