发作性运动源性运动障碍的脑电图特征及PRRT2基因突变对其的影响  

Electroencephalogram features of paroxysmal kinesigenic dyskinesia and influence of PRRT2 mutations in these features

作　　者：刘晓蓉[1] 王一凡[1] 黄丹[1] 孙辉[1] 吴倩仪[1] 廖卫平[1] 何娜[1] 黎冰梅[1] 

机构地区：[1]广州医科大学附属第二医院神经内科,广州510260

出　　处：《中华神经医学杂志》2016年第2期159-163,共5页Chinese Journal of Neuromedicine

基　　金：广东省教育厅2012年省高等院校学科建设专项基金（2012KJCX009）广州市科信局科技计划项目（2014J4100062）

摘　　要：目的探讨发作性运动源性运动障碍（PKD）患者的脑电图（EEG）特征以及富脯氨酸跨膜蛋白2（PRR12）基因突变对其的影响。方法收集自2006年1月至2014年12月在广州医科大学附属第二医院神经内科就诊的60例PKD患者．根据其是否伴有其他神经系统发作性症状进行分型[单纯PKD27例、PKD伴良性家族性婴儿惊厥（ICCA）2例、PKD伴热性惊厥4例、PKD伴不能分类的癫痫27例1，并进行视频脑电图（VEEG）监测，分析患者的EEG特征。取患者外周静脉血进行PRR陀基因编码区外显子点突变筛查，并根据筛查结果将患者分为有突变和无突变2组，比较有无突变组患者间EEG特征的差异。结果31例f51．7％）PKD患者的发作间期EEG异常，其中单纯PKD12例（44．4％），PKD伴ICCA1例（50％），PKD伴热性惊厥0例（0％），PKD伴不能分类的癫痫18例（33.3％）。EEG异常有3种表现形式：弥漫性慢波、局灶性慢波和局灶性癫痫样放电，分别为9例（29．0％）、11例（35．5％）和11例（35．5％）。单纯PKD与PKD伴不能分类的癫痫患者相比，弥漫性慢波[4例（14．8％）US．5例（18．5％）]、局灶性慢波[4例（14．8％）vs 7例（25．9％）]和局灶性癫痫样放电[4例（14．8％）vs．7例（25．9％）]的出现比例差异无统计学意义（P=0．500，P=0-311，P=-0.311）。39例患者进行了PRRT2基因突变筛查，其中21例（53．8％）发现有基因突变。有突变组和无突变组发作间期EEG异常率[12例（57．1％）US．8例（44．4％）]比较差异无统计学意义（p〈0．05）。结论单纯PKD患者和PKD伴癫痫患者均可出现发作间期EEG异常。PRR12基因突变对PKD患者EEG是否正常无明显影响。Objective To explore the electroencephalography （EEG） features of paroxysmal kinesigenic dyskinesia （PKD） and analyze the influence ofproline-rich transmembrane protein 2 （PRRT2） mutations in EEG features. Methods Sixty patients with PKD were collected in our hospital from January 2006 to December 2014. The patients were classified into different subtypes according to the paroxysmal symptoms： 27 with pure PKD, 2 with PKD plus benign familial infantile convulsion （ICCA）, 4 with PKD plus febrile seizure （FS）, and 27 with PKD plus unclassified epilepsy. Video EEG monitoring was performed in all patients. The features of EEG in different subtypes of PKD were analyzed. PRRT2 gene mutations were screened in 39 patients. The EEG features were compared between the patients with and without PRRT2 gene mutations. Results Interictal EEG abnormalities were presented in 31 patients （51.7%）, including 12 （44.4%） with pure PKI）, one （50%） with ICCA, 18 （66.7%） with PKD plus unclassified epilepsy, lnterictal EEG abnormalities were presented as diffused slowing wave （n=9, 29%）,focal slowing wave（n=l 1, 35.5%）, and focal epileptiform discharges （n=ll, 35.5%）. There were no significant differences in the percentage of diffuse slowing discharges （14.8% vs. 18.5%, P=0.500）, focal slowing discharges （14.8% vs. 25.9%, P=0.311）, and focal epileptiform discharges （14.8% vs. 25.9%, P=0.311） between patients with pure PKD and PKD plus unclassified epilepsy. PRRT2 gene mutations were identified in 21 patients （53.8%）. The ratio of EEG abnormalities between groups with and without PRRT2 gene mutations was not significantly different （57.1% vs. 44.4%, P〉0.05）. Conclusions Interictal EEG abnormalities can be presented in patients with pure PKD or PKD plus epilepsy. PRRT2 gene mutations could not influence EEG features in PKD.

关 键 词：发作性运动源性运动障碍 脑电图 富脯氨酸跨膜蛋白2 癫痫 

分 类 号：R741[医药卫生—神经病学与精神病学]