Session Information
Date: Wednesday, September 25, 2019
Session Title: Phenomenology and Clinical Assessment of Movement Disorders
Session Time: 1:15pm-2:45pm
Location: Les Muses Terrace, Level 3
Objective: By analyzing nationwide large samples provided by China Paroxysmal Kinesigenic Dyskinesia Association(CPKDA), this study is attempted to summarize the clinical phenotypes and genetic features of PKD in China and provide new thoughts for diagnosis.
Background: Paroxysmal kinesigenic dyskinesia(PKD) is defined as a spectrum of involuntary dyskinestic disorders of highly clinical significance and genetic heterogeneity. Previous researches have identified mutations in gene PRRT2as the major pathogenic factor, but more investigations are required since genotype-phenotype correlations of PKD still remains unclear.
Method: CPKDA was established in 2018, composed by departments of neurology from over 20 hospitals and leaded by the department of neurology, Rui jin Hospital & Rui jin Hospital North, Shanghai Jiao Tong University School of Medicine. Files of 688 patients were collected nationwide, recorded and analyzed clinical manifestations and PRRT2screening results by using the PKD Registration Form.
Results: 688 PKD patients, including 28 PKD families, were recruited in the presented study. The mean age of onset was 11.69±4.87 years. Five movement-related factors were identified for precipitating attacks of transient involuntary movements or abnormal postures. 38 PRRT2mutations were detected in the enrolled patients and the most common mutation is c.649dupC. Compared to non-PRRT2mutation carriers, PRRT2mutation carriers presented with younger onset, more likely to have a complicated form of PKD, family history and more forms dyskinesia attack. 94.75% patients prescribed with anti-epilepsy drugs acquired satisfying curative effect. However, unlike previous diagnostic recommendations, 15.28% patients reported abnormal EEG results. A new form of exercise tests, as asking patients to perform high-knee sprints in place, was practiced on 10 patients and receiving 7 positive response of precipitate transient dyskinesia attacks.
Conclusion: The sample analyzed in this study is the greatest scale worldwide of research about Paroxysmal kinesigenic dyskinesia so far. We proposed a revised diagnostic criteriaof PKD as abnormalities of EEG could be present with patients. Meanwhile, a new exercise test, high-knee lifting test, is an efficient method to induce attack that helps in diagnosis and differential diagnosis.
To cite this abstract in AMA style:
L. Cao, XJ. Huang, SG. Wang, WT. Tian, HD. Tang, JY. Shen, C. Zhang, ZY. Zhu, FX. Zhan, XQ. Che, SD. Chen, XL. Liu, T. Wang, YQ. Xu, HW. Gui, L. Zheng, L. Wu, TY. Rong, M. Zhang, Y. Wang, GH. Bi, WG. Tang, BS. Tang, XM. Yin, X. Mao, S. Zeng, JL. Wang, J. Li, Q. Liu, XN. Guo, CY. Wang, W. Lu, RX. Zhang, XR. Liu, Y. Zhang, ZG. Liu, GH. Zhao. Large Sample Study on Paroxysmal Kinesigenic Dyskinesia: Genotype-Phenotype Analysis and Diagnosis Recommendations [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/large-sample-study-on-paroxysmal-kinesigenic-dyskinesia-genotype-phenotype-analysis-and-diagnosis-recommendations/. Accessed June 14, 2025.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/large-sample-study-on-paroxysmal-kinesigenic-dyskinesia-genotype-phenotype-analysis-and-diagnosis-recommendations/