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Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

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收录情况： ◇ SCIE ◇ 卓越：重点期刊

作者：
Li Cao[1,2] ; Xiaojun Huang[1] ; Ning Wang[3] ; Zhiying Wu[4] ; Cheng Zhang[5] ; Weihong Gu[6] ; Shuyan Cong[7] ; Jianhua Ma[8] ; Ling Wei[9] ; Yanchun Deng[10] ; Qi Fang[11] ; Qi Niu[12] ; Jin Wang[13] ; Zhaoxia Wang[14] ; You Yin[15] ; Jinyong Tian[16] ; Shufen Tian[17] ; Hongyan Bi[18] ; Hong Jiang[19,20] ; Xiaorong Liu[21] ; Yang Lü[22] ; Meizhen Sun[23] ; Jianjun Wu[24,25] ; Erhe Xu[26] ; Tao Chen[27] ; Tao Chen[28] ; Xu Chen[29] ; Wei Li[30] ; Shujian Li[31] ; Qinghua Li[32] ; Xiaonan Song[33] ; Ying Tang[34] ; Ping Yang[35] ; Yun Yang[36] ; Min Zhang[37] ; Xiong Zhang[38] ; Yuhu Zhang[39] ; Ruxu Zhang[40] ; Yi Ouyang[41] ; Jintai Yu[24] ; Quanzhong Hu[42] ; Qing Ke[43] ; Yuanrong Yao[44] ; Zhe Zhao[45] ; Xiuhe Zhao[46] ; Guohua Zhao[47] ; Furu Liang[48] ; Nan Cheng[49] ; Jianhong Han[50] ; Rong Peng[51] ; Shengdi Chen[1] ; Beisha Tang[19,52] ;
机构： [1]Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong UniversitySchool of Medicine, Shanghai, China [2]Department of Neurology, The SixthPeople’s Hospital, Shanghai Jiaotong University, Shanghai, China [3]Department of Neurology and Institute of Neurology, The First AffiliatedHospital, Fujian Medical University, Fujian Key Laboratory of MolecularNeurology, Fujian Medical University, Fuzhou, China [4]Department ofNeurology and Research Center of Neurology, The Second Affiliated Hospital,Key Laboratory of Medical Neurobiology of Zhejiang Province, ZhejiangUniversity School of Medicine, Hangzhou, China [5]Department of Neurology,The First Affiliated Hospital, Sun Yat-sen University, Guangdong ProvincialKey Laboratory of Diagnosis and Treatment of Major Neurological Diseases,National Key Clinical Department and Key Discipline of Neurology,Guangzhou, China [6]Department of Neurology, China-Japan FriendshipHospital, Movement Disorder and Neurogenetics Research Center, Beijing,China [7]Department of Neurology, Shengjing Hospital of China MedicalUniversity, Shenyang, China [8]Department of Neurology, The First AffiliatedHospital of Xinjiang Medical University, Urumqi, China [9]Department ofNeurology, The First Affiliated Hospital of Anhui Medical University,Collaborative Innovation Center for Neuropsychiatric Disorders and MentalHealth, Anhui Medical University, Anhui Province Key Laboratory ofCognition and Neuropsychiatric Disorders, Hefei, China [10]Department ofNeurology, Xijing Hospital, Fourth Military Medical University, Xi’an, China [11]Department of Neurology, The First Affiliated Hospital of SoochowUniversity, Suzhou, China [12]Department of Neurology, The First AffiliatedHospital of Nanjing Medical University, Nanjing, China [13]Department ofNeurology, The First Affiliated Hospital of Guangxi Medical University,Nanning, China [14]Department of Neurology, Peking University First Hospital,Beijing, China [15]Department of Neurology, Changzheng Hospital, the PLANaval Medical University, Shanghai, China [16]Department of Neurology andDepartment of Emergency, Guizhou Provincial People’s Hospital, Guiyang,China [17]Department of Neurology, Affiliated Hospital of Guizhou MedicalUniversity, Guiyang, China [18]Department of Neurology, Beijing FriendshipHospital, Capital Medical University, Beijing, China [19]Department ofNeurology, Xiangya Hospital, Central South University, Changsha, China [20]National Clinical Research Center for Geriatric Diseases, Central SouthUniversity, Key Laboratory of Hunan Province in NeurodegenerativeDisorders, Central South University, Laboratory of Medical Genetics, CentralSouth University, Changsha, China [21]Institute of Neuroscience and TheSecond Affiliated Hospital of Guangzhou Medical University, Key Laboratoryof Neurogenetics and Channelopathies of Guangdong Province and theMinistry of Education of China, Guangzhou, China [22]Department ofGeriatrics, The First Affiliated Hospital of Chongqing Medical University,Chongqing, China [23]Department of Neurology, the First Hospital of ShanxiMedical University, Taiyuan, China [24]Department of Neurology, HuashanHospital, Fudan University, Shanghai, China [25]National Clinical ResearchCenter for Aging and Medicine, Huashan Hospital, Fudan University,Shanghai, China [26]Department of Neurology, Xuanwu Hospital, CapitalMedical University, National Clinical Research Center for Geriatric Diseases,Beijing, China [27]Department of Neurology, Hainan General Hospital, Haikou,China [28]Department of Neurology, First Affiliated Hospital of KunmingMedical University, Kunming, China [29]Department of Neurology, ShanghaiEighth People’s Hospital Affiliated to Jiang Su University, Shanghai, China [30]Department of Neurology, Beijing Tiantan Hospital, Capital MedicalUniversity, China National Clinical Research Center for Neurological Diseases,Center of Stroke, Beijing Institute for Brain Disorders, Beijing Key Laboratoryof Translational Medicine for Cerebrovascular Disease, Beijing, China [31]Department of Neurology, Henan Provincial People’s Hospital, ZhengzhouUniversity People’s Hospital, Zhengzhou, China [32]Department of Neurology,Affiliated Hospital of Guilin Medical University, Guilin Medical University,Guangxi Key Laboratory of Brain and Cognitive Neuroscience, Guilin MedicalUniversity, Guangxi Clinical Research Center for Neurological Diseases,Affiliated Hospital of Guilin Medical University, Guilin Medical University,Guangxi Key Laboratory of Brain and Cognitive Neuroscience, Guilin MedicalUniversity, Guilin, China [33]Department of Neurology and Neuroscience Center, First Hospital of Jilin University, Changchun, China [34]Department ofNeurology, The First Affiliated Hospital of Harbin Medical University, Harbin,China [35]Department of Neurology, and Neuroscience Center, GeneralHospital of Ningxia Medical University, Key Laboratory of CraniocerebralDiseases of Ningxia Hui Autonomous Region, Yinchuan, China [36]Departmentof Neurology, Jiangxi Provincial People’s Hospital Affiliated with NanchangUniversity, Nanchang, China [37]Department of Neurology, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology,Wuhan, China [38]Department of Geriatrics and Neurology, The SecondAffiliated Hospital and Yuying Children’s Hospital, Wenzhou MedicalUniversity, Wenzhou, China [39]Department of Neurology, GuangdongNeuroscience Institute, Guangdong Provincial People’s Hospital, GuangdongAcademy of Medical Sciences, Guangzhou, China [40]Department ofNeurology, The Third Xiangya Hospital, Central South University, Changsha,China. [41]Department of Neurology, First Affiliated Hospital, China MedicalUniversity, Shenyang, China [42]Department of Neurology, Qinghai ProvincialPeople’s Hospital, Qinghai, China [43]Department of Neurology, The FirstAffiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China [44]Department of Neurology, Guizhou Provincial People’s Hospital, MedicalSchool of Guizhou University, Guiyang, China [45]Department of Neurology,the Third Hospital of Hebei Medical University, Shijiazhuang, China [46]Department of Neurology, Qilu Hospital, Shandong University, Jinan, China [47]Department of Neurology, the Fourth Affiliated Hospital, ZhejiangUniversity School of Medicine, Yiwu, China [48]Department of Neurology,Baotou Central Hospital, Baotou, China [49]Institute of Neurology, HospitalAffiliated with Anhui University of TCM, Hefei, China [50]Department ofNeurology, Second Affiliated Hospital of Kunming Medical University,Kunming, China [51]Department of Neurology, West China Hospital, SichuanUniversity, Chengdu, China [52]State Key Laboratory of Medical Genetics,Changsha, China
出处：
DOI： 10.1186/s40035-021-00231-8
ISSN：

关键词： China Diagnosis and treatment Expert consensus Paroxysmal kinesigenic dyskinesia

摘要：
Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different causes. Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and can be divided into primary and secondary types based on the etiology. Clinically, PKD is characterized by recurrent and transient attacks of involuntary movements precipitated by a sudden voluntary action. The major cause of primary PKD is genetic abnormalities, and the inheritance pattern of PKD is mainly autosomal-dominant with incomplete penetrance. The proline-rich transmembrane protein 2 (PRRT2) was the first identified causative gene of PKD, accounting for the majority of PKD cases worldwide. An increasing number of studies has revealed the clinical and genetic characteristics, as well as the underlying mechanisms of PKD. By seeking the views of domestic experts, we propose an expert consensus regarding the diagnosis and treatment of PKD to help establish standardized clinical evaluation and therapies for PKD. In this consensus, we review the clinical manifestations, etiology, clinical diagnostic criteria and therapeutic recommendations for PKD, and results of genetic analyses in PKD patients performed in domestic hospitals. © 2021, The Author(s).

基金：
We express our gratitude to all the neurologists who contributed to this paper.
语种：
外文
被引次数：
WOS：
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中科院(CAS)分区：
出版当年[2022]版：
大类 | 1 区 医学
小类 | 1 区 神经科学
最新[2023]版：
大类 | 1 区 医学
小类 | 1 区 神经科学
JCR分区：
出版当年[2021]版：
Q1 NEUROSCIENCES
最新[2023]版：
Q1 NEUROSCIENCES

影响因子： 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者：
第一作者机构： [1]Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong UniversitySchool of Medicine, Shanghai, China [2]Department of Neurology, The SixthPeople’s Hospital, Shanghai Jiaotong University, Shanghai, China
共同第一作者：
通讯作者：
通讯机构： [1]Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong UniversitySchool of Medicine, Shanghai, China [2]Department of Neurology, The SixthPeople’s Hospital, Shanghai Jiaotong University, Shanghai, China [19]Department ofNeurology, Xiangya Hospital, Central South University, Changsha, China [52]State Key Laboratory of Medical Genetics,Changsha, China
推荐引用方式(GB/T 7714)：
Li Cao,Xiaojun Huang,Ning Wang,et al.Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China[J].TRANSLATIONAL NEURODEGENERATION.2021,10(1):doi:10.1186/s40035-021-00231-8.
APA：
Li Cao,Xiaojun Huang,Ning Wang,Zhiying Wu,Cheng Zhang...&Beisha Tang.(2021).Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.TRANSLATIONAL NEURODEGENERATION,10,(1)
MLA：
Li Cao,et al."Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China".TRANSLATIONAL NEURODEGENERATION 10..1(2021)

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