单位：[1]Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong UniversitySchool of Medicine, Shanghai, China[2]Department of Neurology, The Sixth People’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 Molecular Neurology, Fujian Medical University, Fuzhou, China[4]Department of Neurology and Research Center of Neurology, The Second Affiliated Hospital Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China[5]Department of Neurology,The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key 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 Affiliated Hospital of Xinjiang Medical University, Urumqi, China[9]Department of Neurology, The First Affiliated Hospital of Anhui Medical University,Collaborative Innovation Center for Neuropsychiatric Disorders and Mental Health, Anhui Medical University Anhui Province Key Laboratory of Cognition and Neuropsychiatric Disorders, Hefei, China[10]Department of Neurology, 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 Affiliated Hospital of Nanjing Medical University, Nanjing, China[13]Department of Neurology, 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 and Department 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 Friendship Hospital, Capital Medical University, Beijing, China[19]Department of Neurology, Xiangya Hospital, Central South University, Changsha, China[20]National Clinical Research Center for Geriatric Diseases, Central South University Key Laboratory of Hunan Province in Neurodegenerative Disorders, 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 of Geriatrics, 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, Huashan Hospital, Fudan University, Shanghai, China[25]National Clinical Research Center 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 Kunming Medical University, Kunming, China[29]Department of Neurology, Shanghai Eighth 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 DiseasesCenter 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, Zhengzhou University 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 Medical University, 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 Medical University, Guilin, China[33]Department of Neurology and Neuroscience Center, First Hospital of Jilin University, Changchun, China[34]Department of Neurology, 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 Craniocerebral Diseases 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神经科华中科技大学同济医学院附属同济医院神经内科[38]Department of Geriatrics and Neurology, The Second Affiliated Hospital and Yuying Children’s Hospital, Wenzhou Medical University, Wenzhou, China[39]Department of Neurology, Guangdong Neuroscience Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China[40]Department of Neurology, 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 of Neurology, 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
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.
第一作者单位：[1]Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong UniversitySchool of Medicine, Shanghai, China[2]Department of Neurology, The Sixth People’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 Sixth People’s Hospital, Shanghai Jiaotong University, Shanghai, China[19]Department of Neurology, 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):67-76.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):67-76
医学