Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China
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Published:2021-02-16
Issue:1
Volume:10
Page:
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ISSN:2047-9158
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Container-title:Translational Neurodegeneration
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language:en
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Short-container-title:Transl Neurodegener
Author:
Cao LiORCID, Huang Xiaojun, Wang Ning, Wu Zhiying, Zhang Cheng, Gu Weihong, Cong Shuyan, Ma Jianhua, Wei Ling, Deng Yanchun, Fang Qi, Niu Qi, Wang Jin, Wang Zhaoxia, Yin You, Tian Jinyong, Tian Shufen, Bi Hongyan, Jiang Hong, Liu Xiaorong, Lü Yang, Sun Meizhen, Wu Jianjun, Xu Erhe, Chen Tao, Chen Tao, Chen Xu, Li Wei, Li Shujian, Li Qinghua, Song Xiaonan, Tang Ying, Yang Ping, Yang Yun, Zhang Min, Zhang Xiong, Zhang Yuhu, Zhang Ruxu, Ouyang Yi, Yu Jintai, Hu Quanzhong, Ke Qing, Yao Yuanrong, Zhao Zhe, Zhao Xiuhe, Zhao Guohua, Liang Furu, Cheng Nan, Han Jianhong, Peng Rong, Chen Shengdi, Tang Beisha
Abstract
AbstractParoxysmal 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.
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Cognitive Neuroscience,Neurology (clinical)
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