The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Autor:	Huang XJ; Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Wang SG; Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Guo XN; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, China.; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences (CAMS) & Peking Union Medical College (PUMC), Beijing, China.; Department of Nephrology, the First Affiliated Hospital of Dalian Medical University, Dalian Medical University, Dalian, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Tian WT; Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Zhan FX; Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Zhu ZY; Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Yin XM; Department of Neurology, Xiangya Hospital, Central South University, State Key Laboratory of Medical Genetics, Changsha, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Liu Q; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Yin KL; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, China.; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences (CAMS) & Peking Union Medical College (PUMC), Beijing, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Liu XR; 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.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Zhang Y; Department of Neurology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Liu ZG; Department of Neurology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Liu XL; Department of Neurology, Fengxian District Central Hospital, Shanghai Jiao Tong University Affiliated to Sixth People's Hospital South Campus, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Zheng L; Department of Neurology, Minhang Hospital, Fudan University, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Wang T; Department of Neurology, The Central Hospital of Wuhan, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Wu L; Department of Neurology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Rong TY; Department of Neurology, Shidong Hospital of Yangpu District, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Wang Y; Department of Neurology, The First Hospital Affiliated to Anhui University of Science and Technology, Huainan, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Zhang M; Department of Neurology, The First Hospital Affiliated to Anhui University of Science and Technology, Huainan, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Bi GH; Department of Neurology, Dongying People's Hospital, Dongying, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Tang WG; Department of Neurology, Zhoushan Hospital, Zhoushan, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Zhang C; Department of Neurology, Suzhou Municipal Hospital, Suzhou, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Zhong P; Department of Neurology, Suzhou Municipal Hospital, Suzhou, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Wang CY; Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Tang JG; Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Lu W; Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Zhang RX; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Zhao GH; Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Li XH; Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Li H; Department of Neurology, Guangdong 999 Brain Hospital, Guangzhou, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Chen T; Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Li HY; Department of Neurology, Anyang People's Hospital, Anyang, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Luo XG; Department of Neurology, Shenzhen People's Hospital, Shenzhen, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Song YY; Department of Biostatistics, Clinical Research Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Tang HD; Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Luan XH; Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Zhou HY; Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Tang BS; Department of Neurology, Xiangya Hospital, Central South University, State Key Laboratory of Medical Genetics, Changsha, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Chen SD; Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China., Cao L; Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China.
Jazyk:	angličtina
Zdroj:	Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 Aug; Vol. 35 (8), pp. 1428-1437. Date of Electronic Publication: 2020 May 11.
DOI:	10.1002/mds.28061
Abstrakt:	Background: Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations in proline-rich transmembrane protein 2 have been identified as the major pathogenic factor. Objectives: We analyzed 600 paroxysmal kinesigenic dyskinesia patients nationwide who were identified by the China Paroxysmal Dyskinesia Collaborative Group to summarize the clinical phenotypes and genetic features of paroxysmal kinesigenic dyskinesia in China and to provide new thoughts on diagnosis and therapy. Methods: The China Paroxysmal Dyskinesia Collaborative Group was composed of departments of neurology from 22 hospitals. Clinical manifestations and proline-rich transmembrane protein 2 screening results were recorded using unified paroxysmal kinesigenic dyskinesia registration forms. Genotype-phenotype correlation analyses were conducted in patients with and without proline-rich transmembrane protein 2 mutations. High-knee exercises were applied in partial patients as a new diagnostic test to induce attacks. Results: Kinesigenic triggers, male predilection, dystonic attacks, aura, complicated forms of paroxysmal kinesigenic dyskinesia, clustering in patients with family history, and dramatic responses to antiepileptic treatment were the prominent features in this multicenter study. Clinical analysis showed that proline-rich transmembrane protein 2 mutation carriers were prone to present at a younger age and have longer attack duration, bilateral limb involvement, choreic attacks, a complicated form of paroxysmal kinesigenic dyskinesia, family history, and more forms of dyskinesia. The new high-knee-exercise test efficiently induced attacks and could assist in diagnosis. Conclusions: We propose recommendations regarding diagnostic criteria for paroxysmal kinesigenic dyskinesia based on this large clinical study of paroxysmal kinesigenic dyskinesia. The findings offered some new insights into the diagnosis and treatment of paroxysmal kinesigenic dyskinesia and might help in building standardized paroxysmal kinesigenic dyskinesia clinical evaluations and therapies. © 2020 International Parkinson and Movement Disorder Society. (© 2020 International Parkinson and Movement Disorder Society.)
Databáze:	MEDLINE
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