Review

. 2021 Feb 16;10(1):7.

doi: 10.1186/s40035-021-00231-8.

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

Li Cao^#^{1

2}, Xiaojun Huang^#³, Ning Wang⁴, Zhiying Wu⁵, Cheng Zhang⁶, Weihong Gu⁷, Shuyan Cong⁸, Jianhua Ma⁹, Ling Wei¹⁰, Yanchun Deng¹¹, Qi Fang¹², Qi Niu¹³, Jin Wang¹⁴, Zhaoxia Wang¹⁵, You Yin¹⁶, Jinyong Tian¹⁷, Shufen Tian¹⁸, Hongyan Bi¹⁹, Hong Jiang^{20

21}, Xiaorong Liu²², Yang Lü²³, Meizhen Sun²⁴, Jianjun Wu^{25

26}, Erhe Xu²⁷, Tao Chen²⁸, Tao Chen²⁹, Xu Chen³⁰, Wei Li³¹, Shujian Li³², Qinghua Li³³, Xiaonan Song³⁴, Ying Tang³⁵, Ping Yang³⁶, Yun Yang³⁷, Min Zhang³⁸, Xiong Zhang³⁹, Yuhu Zhang⁴⁰, Ruxu Zhang⁴¹, Yi Ouyang⁴², Jintai Yu²⁵, Quanzhong Hu⁴³, Qing Ke⁴⁴, Yuanrong Yao⁴⁵, Zhe Zhao⁴⁶, Xiuhe Zhao⁴⁷, Guohua Zhao⁴⁸, Furu Liang⁴⁹, Nan Cheng⁵⁰, Jianhong Han⁵¹, Rong Peng⁵², Shengdi Chen⁵³, Beisha Tang^{54

55}

Affiliations

¹ Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. caoli2000@yeah.net.
² Department of Neurology, The Sixth People's Hospital, Shanghai Jiaotong University, Shanghai, China. caoli2000@yeah.net.
³ Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
⁴ 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.
⁵ 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.
⁶ 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.
⁷ Department of Neurology, China-Japan Friendship Hospital, Movement Disorder and Neurogenetics Research Center, Beijing, China.
⁸ Department of Neurology, Shengjing Hospital of China Medical University, Shenyang, China.
⁹ Department of Neurology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
¹⁰ 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.
¹¹ Department of Neurology, Xijing Hospital, Fourth Military Medical University, Xi'an, China.
¹² Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.
¹³ Department of Neurology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
¹⁴ Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
¹⁵ Department of Neurology, Peking University First Hospital, Beijing, China.
¹⁶ Department of Neurology, Changzheng Hospital, the PLA Naval Medical University, Shanghai, China.
¹⁷ Department of Neurology and Department of Emergency, Guizhou Provincial People's Hospital, Guiyang, China.
¹⁸ Department of Neurology, Affiliated Hospital of Guizhou Medical University, Guiyang, China.
¹⁹ Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
²⁰ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
²¹ 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.
²² 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.
²³ Department of Geriatrics, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
²⁴ Department of Neurology, the First Hospital of Shanxi Medical University, Taiyuan, China.
²⁵ Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
²⁶ National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China.
²⁷ Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China.
²⁸ Department of Neurology, Hainan General Hospital, Haikou, China.
²⁹ Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, China.
³⁰ Department of Neurology, Shanghai Eighth People's Hospital Affiliated to Jiang Su University, Shanghai, China.
³¹ 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.
³² Department of Neurology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China.
³³ 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.
³⁴ Department of Neurology and Neuroscience Center, First Hospital of Jilin University, Changchun, China.
³⁵ Department of Neurology, The First Affiliated Hospital of Harbin Medical University, Harbin, China.
³⁶ Department of Neurology, and Neuroscience Center, General Hospital of Ningxia Medical University, Key Laboratory of Craniocerebral Diseases of Ningxia Hui Autonomous Region, Yinchuan, China.
³⁷ Department of Neurology, Jiangxi Provincial People's Hospital Affiliated with Nanchang University, Nanchang, China.
³⁸ Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
³⁹ Department of Geriatrics and Neurology, The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
⁴⁰ Department of Neurology, Guangdong Neuroscience Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
⁴¹ Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
⁴² Department of Neurology, First Affiliated Hospital, China Medical University, Shenyang, China.
⁴³ Department of Neurology, Qinghai Provincial People's Hospital, Qinghai, China.
⁴⁴ Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
⁴⁵ Department of Neurology, Guizhou Provincial People's Hospital, Medical School of Guizhou University, Guiyang, China.
⁴⁶ Department of Neurology, the Third Hospital of Hebei Medical University, Shijiazhuang, China.
⁴⁷ Department of Neurology, Qilu Hospital, Shandong University, Jinan, China.
⁴⁸ Department of Neurology, the Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, China.
⁴⁹ Department of Neurology, Baotou Central Hospital, Baotou, China.
⁵⁰ Institute of Neurology, Hospital Affiliated with Anhui University of TCM, Hefei, China.
⁵¹ Department of Neurology, Second Affiliated Hospital of Kunming Medical University, Kunming, China.
⁵² Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
⁵³ Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. chensd@rjh.com.cn.
⁵⁴ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China. bstang7398@163.com.
⁵⁵ State Key Laboratory of Medical Genetics, Changsha, China. bstang7398@163.com.

^# Contributed equally.

PMID: 33588936
PMCID: PMC7885391
DOI: 10.1186/s40035-021-00231-8

Review

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

Li Cao et al. Transl Neurodegener. 2021.

. 2021 Feb 16;10(1):7.

doi: 10.1186/s40035-021-00231-8.

Authors

Affiliations

¹ Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. caoli2000@yeah.net.
² Department of Neurology, The Sixth People's Hospital, Shanghai Jiaotong University, Shanghai, China. caoli2000@yeah.net.
³ Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
⁴ 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.
⁵ 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.
⁶ 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.
⁷ Department of Neurology, China-Japan Friendship Hospital, Movement Disorder and Neurogenetics Research Center, Beijing, China.
⁸ Department of Neurology, Shengjing Hospital of China Medical University, Shenyang, China.
⁹ Department of Neurology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
¹⁰ 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.
¹¹ Department of Neurology, Xijing Hospital, Fourth Military Medical University, Xi'an, China.
¹² Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.
¹³ Department of Neurology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
¹⁴ Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
¹⁵ Department of Neurology, Peking University First Hospital, Beijing, China.
¹⁶ Department of Neurology, Changzheng Hospital, the PLA Naval Medical University, Shanghai, China.
¹⁷ Department of Neurology and Department of Emergency, Guizhou Provincial People's Hospital, Guiyang, China.
¹⁸ Department of Neurology, Affiliated Hospital of Guizhou Medical University, Guiyang, China.
¹⁹ Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
²⁰ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
²¹ 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.
²² 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.
²³ Department of Geriatrics, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
²⁴ Department of Neurology, the First Hospital of Shanxi Medical University, Taiyuan, China.
²⁵ Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
²⁶ National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China.
²⁷ Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China.
²⁸ Department of Neurology, Hainan General Hospital, Haikou, China.
²⁹ Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, China.
³⁰ Department of Neurology, Shanghai Eighth People's Hospital Affiliated to Jiang Su University, Shanghai, China.
³¹ 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.
³² Department of Neurology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China.
³³ 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.
³⁴ Department of Neurology and Neuroscience Center, First Hospital of Jilin University, Changchun, China.
³⁵ Department of Neurology, The First Affiliated Hospital of Harbin Medical University, Harbin, China.
³⁶ Department of Neurology, and Neuroscience Center, General Hospital of Ningxia Medical University, Key Laboratory of Craniocerebral Diseases of Ningxia Hui Autonomous Region, Yinchuan, China.
³⁷ Department of Neurology, Jiangxi Provincial People's Hospital Affiliated with Nanchang University, Nanchang, China.
³⁸ Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
³⁹ Department of Geriatrics and Neurology, The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
⁴⁰ Department of Neurology, Guangdong Neuroscience Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
⁴¹ Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
⁴² Department of Neurology, First Affiliated Hospital, China Medical University, Shenyang, China.
⁴³ Department of Neurology, Qinghai Provincial People's Hospital, Qinghai, China.
⁴⁴ Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
⁴⁵ Department of Neurology, Guizhou Provincial People's Hospital, Medical School of Guizhou University, Guiyang, China.
⁴⁶ Department of Neurology, the Third Hospital of Hebei Medical University, Shijiazhuang, China.
⁴⁷ Department of Neurology, Qilu Hospital, Shandong University, Jinan, China.
⁴⁸ Department of Neurology, the Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, China.
⁴⁹ Department of Neurology, Baotou Central Hospital, Baotou, China.
⁵⁰ Institute of Neurology, Hospital Affiliated with Anhui University of TCM, Hefei, China.
⁵¹ Department of Neurology, Second Affiliated Hospital of Kunming Medical University, Kunming, China.
⁵² Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
⁵³ Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. chensd@rjh.com.cn.
⁵⁴ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China. bstang7398@163.com.
⁵⁵ State Key Laboratory of Medical Genetics, Changsha, China. bstang7398@163.com.

^# Contributed equally.

PMID: 33588936
PMCID: PMC7885391
DOI: 10.1186/s40035-021-00231-8

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.

Keywords: China; Diagnosis and treatment; Expert consensus; Paroxysmal kinesigenic dyskinesia.

PubMed Disclaimer

Conflict of interest statement

The authors have no competing interests to declare.

Figures

**Fig. 1**
Flowchart for a recommended approach for PKD diagnosis. CT: computed tomography; EEG: electroencephalogram; HKE, high-knee exercise test; MRI: magnetic resonance imaging; PKD: paroxysmal kinesigenic dyskinesia; UCB: unconjugated bilirubin

See this image and copyright information in PMC

References

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

Substances

Supplementary concepts

LinkOut - more resources

Full Text Sources

Other Literature Sources