Translational Neurodegeneration (Feb 2021)
Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China
- Li Cao,
- Xiaojun Huang,
- Ning Wang,
- Zhiying Wu,
- Cheng Zhang,
- Weihong Gu,
- Shuyan Cong,
- Jianhua Ma,
- Ling Wei,
- Yanchun Deng,
- Qi Fang,
- Qi Niu,
- Jin Wang,
- Zhaoxia Wang,
- You Yin,
- Jinyong Tian,
- Shufen Tian,
- Hongyan Bi,
- Hong Jiang,
- Xiaorong Liu,
- Yang Lü,
- Meizhen Sun,
- Jianjun Wu,
- Erhe Xu,
- Tao Chen,
- Tao Chen,
- Xu Chen,
- Wei Li,
- Shujian Li,
- Qinghua Li,
- Xiaonan Song,
- Ying Tang,
- Ping Yang,
- Yun Yang,
- Min Zhang,
- Xiong Zhang,
- Yuhu Zhang,
- Ruxu Zhang,
- Yi Ouyang,
- Jintai Yu,
- Quanzhong Hu,
- Qing Ke,
- Yuanrong Yao,
- Zhe Zhao,
- Xiuhe Zhao,
- Guohua Zhao,
- Furu Liang,
- Nan Cheng,
- Jianhong Han,
- Rong Peng,
- Shengdi Chen,
- Beisha Tang
Affiliations
- Li Cao
- Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine
- Xiaojun Huang
- Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine
- Ning Wang
- Department of Neurology and Institute of Neurology, The First Affiliated Hospital, Fujian Medical University; Fujian Key Laboratory of Molecular Neurology, Fujian Medical University
- Zhiying Wu
- 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
- Cheng Zhang
- 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
- Weihong Gu
- Department of Neurology, China-Japan Friendship Hospital, Movement Disorder and Neurogenetics Research Center
- Shuyan Cong
- Department of Neurology, Shengjing Hospital of China Medical University
- Jianhua Ma
- Department of Neurology, The First Affiliated Hospital of Xinjiang Medical University
- Ling Wei
- 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
- Yanchun Deng
- Department of Neurology, Xijing Hospital, Fourth Military Medical University
- Qi Fang
- Department of Neurology, The First Affiliated Hospital of Soochow University
- Qi Niu
- Department of Neurology, The First Affiliated Hospital of Nanjing Medical University
- Jin Wang
- Department of Neurology, The First Affiliated Hospital of Guangxi Medical University
- Zhaoxia Wang
- Department of Neurology, Peking University First Hospital
- You Yin
- Department of Neurology, Changzheng Hospital, the PLA Naval Medical University
- Jinyong Tian
- Department of Neurology and Department of Emergency, Guizhou Provincial People’s Hospital
- Shufen Tian
- Department of Neurology, Affiliated Hospital of Guizhou Medical University
- Hongyan Bi
- Department of Neurology, Beijing Friendship Hospital, Capital Medical University
- Hong Jiang
- Department of Neurology, Xiangya Hospital, Central South University
- Xiaorong Liu
- 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
- Yang Lü
- Department of Geriatrics, The First Affiliated Hospital of Chongqing Medical University
- Meizhen Sun
- Department of Neurology, the First Hospital of Shanxi Medical University
- Jianjun Wu
- Department of Neurology, Huashan Hospital, Fudan University
- Erhe Xu
- Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases
- Tao Chen
- Department of Neurology, Hainan General Hospital
- Tao Chen
- Department of Neurology, First Affiliated Hospital of Kunming Medical University
- Xu Chen
- Department of Neurology, Shanghai Eighth People’s Hospital Affiliated to Jiang Su University
- Wei Li
- 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
- Shujian Li
- Department of Neurology, Henan Provincial People’s Hospital, Zhengzhou University People’s Hospital
- Qinghua Li
- 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
- Xiaonan Song
- Department of Neurology and Neuroscience Center, First Hospital of Jilin University
- Ying Tang
- Department of Neurology, The First Affiliated Hospital of Harbin Medical University
- Ping Yang
- Department of Neurology, and Neuroscience Center, General Hospital of Ningxia Medical University, Key Laboratory of Craniocerebral Diseases of Ningxia Hui Autonomous Region
- Yun Yang
- Department of Neurology, Jiangxi Provincial People’s Hospital Affiliated with Nanchang University
- Min Zhang
- Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
- Xiong Zhang
- Department of Geriatrics and Neurology, The Second Affiliated Hospital and Yuying Children’s Hospital, Wenzhou Medical University
- Yuhu Zhang
- Department of Neurology, Guangdong Neuroscience Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences
- Ruxu Zhang
- Department of Neurology, The Third Xiangya Hospital, Central South University
- Yi Ouyang
- Department of Neurology, First Affiliated Hospital, China Medical University
- Jintai Yu
- Department of Neurology, Huashan Hospital, Fudan University
- Quanzhong Hu
- Department of Neurology, Qinghai Provincial People’s Hospital
- Qing Ke
- Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine
- Yuanrong Yao
- Department of Neurology, Guizhou Provincial People’s Hospital, Medical School of Guizhou University
- Zhe Zhao
- Department of Neurology, the Third Hospital of Hebei Medical University
- Xiuhe Zhao
- Department of Neurology, Qilu Hospital, Shandong University
- Guohua Zhao
- Department of Neurology, the Fourth Affiliated Hospital, Zhejiang University School of Medicine
- Furu Liang
- Department of Neurology, Baotou Central Hospital
- Nan Cheng
- Institute of Neurology, Hospital Affiliated with Anhui University of TCM
- Jianhong Han
- Department of Neurology, Second Affiliated Hospital of Kunming Medical University
- Rong Peng
- Department of Neurology, West China Hospital, Sichuan University
- Shengdi Chen
- Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine
- Beisha Tang
- Department of Neurology, Xiangya Hospital, Central South University
- DOI
- https://doi.org/10.1186/s40035-021-00231-8
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 10
Abstract
Abstract 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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