PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia
作者机构：Department of NeurologyTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Department of Laboratory MedicineTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China
出 版 物：《Current Medical Science》 (当代医学科学（英文）)
年 卷 期：2022年第42卷第2期
页 面：280-285页
核心收录：
学科分类：1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100214[医学-肿瘤学] 10[医学]
基 金：This work was supported by the Natural Science Foundation of Hubei Province(No.2019CFB753) the Hubei Technological Innovation Special Fund(No.2019ACA132) the Hubei Natural Science Foundation(No.2020CFB805)
主 题：paroxysmal kinesigenic dyskinesia proline-rich transmembrane protein 2 cytokines
摘 要：Objective Paroxysmal kinesigenic dyskinesia(PKD)is a rare movement disorder PRRT2 gene mutations have been reported to cause ***,the pathophysiological mechanism of PKD remains unclear,and it is unknown whether an inflammatory response is involved in the occurrence of this *** aimed to investigate the symptomatology,genotype,and serum cytokines of patients with *** We recruited 21 patients with PKD,including 7 with familial PKD and 14 with sporadic *** clinical features were investigated,and blood samples were collected,and PRRT2 mutations and cytokine levels were *** The mean age at PKD onset was 12.3±2.2 years *** was the most common manifestation of dyskinesia,and the limbs were the most commonly affected *** attacks were induced by identifiable kinesigenic triggers,and the attack durations were brief(A)were previously *** tumor necrosis factor(TNF)-αlevel in the PKD group was significantly higher than that in the age-and sex-matched control group(P=0.025).There were no significant differences in the interleukin(IL)-1β,IL-2R,IL-6,IL-8,or IL-10 levels between the two *** In this study,we summarized the clinical and genetic characteristics of *** found that the serum TNF-αlevels were elevated in patients clinically diagnosed with PKD,suggesting that an inflammatory response is involved in the pathogenesis of PKD.
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