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

Translational Neurodegeneration

Xiong Zhang¹  Yang Lü²  Jinyong Tian³  Ning Wang⁴  Xiaonan Song⁵  Zhiying Wu⁶  Qinghua Li⁷  Shufen Tian⁸  Furu Liang⁹  Hongyan Bi^1,10  Wei Li^1,11  You Yin^1,12  Weihong Gu^1,13  Tao Chen^1,14  Yi Ouyang^1,15  Yuhu Zhang^1,16  Yuanrong Yao^1,17  Shujian Li^1,19  Jintai Yu^2,20  Jianjun Wu^2,21  Yun Yang^2,22  Zhaoxia Wang^2,23  Xiuhe Zhao^2,24  Quanzhong Hu^2,25  Shengdi Chen^2,26  Xiaojun Huang^2,26  Li Cao^2,27  Jianhong Han^2,28  Xu Chen^2,29  Shuyan Cong^3,30  Ling Wei^3,31  Jin Wang^3,32  Ying Tang^3,33  Qi Niu^3,34  Qi Fang^3,35  Jianhua Ma^3,36  Cheng Zhang^3,37  Qing Ke^3,38  Ruxu Zhang^3,39  Min Zhang^4,40  Rong Peng^4,41  Hong Jiang^4,42  Beisha Tang^4,43  Yanchun Deng^4,44  Erhe Xu^4,45  Ping Yang^4,46  Meizhen Sun^4,47  Guohua Zhao^4,48  Zhe Zhao^4,49  Nan Cheng^5,50  Xiaorong Liu^5,51 

[1] Department of Geriatrics and Neurology, The Second Affiliated Hospital and Yuying Children’s Hospital, Wenzhou Medical University, Wenzhou, China;Department of Geriatrics, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China;Department of Neurology and Department of Emergency, Guizhou Provincial People’s Hospital, Guiyang, China;Department of Neurology and Institute of Neurology, The First Affiliated Hospital, Fujian Medical University; Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China;Department of Neurology and Neuroscience Center, First Hospital of Jilin University, Changchun, China;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;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;Department of Neurology, Affiliated Hospital of Guizhou Medical University, Guiyang, China;Department of Neurology, Baotou Central Hospital, Baotou, China;Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing, China;Department of Neurology, Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases; Center of Stroke, Beijing Institute for Brain Disorders; Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, China;Department of Neurology, Changzheng Hospital, the PLA Naval Medical University, Shanghai, China;Department of Neurology, China-Japan Friendship Hospital, Movement Disorder and Neurogenetics Research Center, Beijing, China;Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, China;Department of Neurology, First Affiliated Hospital, China Medical University, Shenyang, China;Department of Neurology, Guangdong Neuroscience Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China;Department of Neurology, Guizhou Provincial People’s Hospital, Medical School of Guizhou University, Guiyang, China;Department of Neurology, Hainan General Hospital, Haikou, China;Department of Neurology, Henan Provincial People’s Hospital, Zhengzhou University People’s Hospital, Zhengzhou, China;Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China;Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China;National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China;Department of Neurology, Jiangxi Provincial People’s Hospital Affiliated with Nanchang University, Nanchang, China;Department of Neurology, Peking University First Hospital, Beijing, China;Department of Neurology, Qilu Hospital, Shandong University, Jinan, China;Department of Neurology, Qinghai Provincial People’s Hospital, Qinghai, China;Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China;Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China;Department of Neurology, The Sixth People’s Hospital, Shanghai Jiaotong University, Shanghai, China;Department of Neurology, Second Affiliated Hospital of Kunming Medical University, Kunming, China;Department of Neurology, Shanghai Eighth People’s Hospital Affiliated to Jiang Su University, Shanghai, China;Department of Neurology, Shengjing Hospital of China Medical University, Shenyang, China;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;Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China;Department of Neurology, The First Affiliated Hospital of Harbin Medical University, Harbin, China;Department of Neurology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China;Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China;Department of Neurology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China;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;Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China;Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China;Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China;Department of Neurology, West China Hospital, Sichuan University, Chengdu, China;Department of Neurology, Xiangya Hospital, Central South University, Changsha, China;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, Central South University, Changsha, China;Department of Neurology, Xiangya Hospital, Central South University, Changsha, China;State Key Laboratory of Medical Genetics, Changsha, China;Department of Neurology, Xijing Hospital, Fourth Military Medical University, Xi’an, China;Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China;Department of Neurology, and Neuroscience Center, General Hospital of Ningxia Medical University, Key Laboratory of Craniocerebral Diseases of Ningxia Hui Autonomous Region, Yinchuan, China;Department of Neurology, the First Hospital of Shanxi Medical University, Taiyuan, China;Department of Neurology, the Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, China;Department of Neurology, the Third Hospital of Hebei Medical University, Shijiazhuang, China;Institute of Neurology, Hospital Affiliated with Anhui University of TCM, Hefei, China;Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China;

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

DOI  :  10.1186/s40035-021-00231-8

来源: Springer

【 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.

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