田沃土 黃嘯君 沈雋逸 徐洋奇 陳生弟 曹立

.神經(jīng)系統(tǒng)遺傳性疾病.

發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙臨床表型分析

田沃土 黃嘯君 沈雋逸 徐洋奇 陳生弟 曹立

研究背景發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙是一組由突然動(dòng)作誘發(fā)的非隨意性運(yùn)動(dòng)障礙性疾病,表現(xiàn)為反復(fù)發(fā)作的短暫性肌張力障礙或舞蹈樣動(dòng)作,具有高度臨床和遺傳異質(zhì)性.本研究旨在總結(jié)中國(guó)發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙臨床表型特點(diǎn).方法采集195例原發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者臨床資料,采用自行設(shè)計(jì)的發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙登記表記錄并整理,分析和總結(jié)發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙臨床表型特點(diǎn),并比較家族性與散發(fā)性患者臨床表型差異.結(jié)果195例發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者男女比例為4.42∶1,平均發(fā)病年齡為(12.32±3.49)歲,單純型162例(83.08%)、復(fù)雜型33例(16.92%),16例(8.21%)合并特發(fā)性震顫,144例(73.85%)發(fā)作前有先兆,發(fā)作形式包括肌張力障礙(134例,68.72%)、舞蹈樣動(dòng)作(8例,4.10%)和二者混合形式(53例,27.18%),134例(68.72%)發(fā)作時(shí)面部受累,115例(58.97%)發(fā)作頻率<10次/d、54例(27.69%)10～20次/d、26例(13.33%)>20～30 次/d,117例(60%)發(fā)作持續(xù)時(shí)間<10 s、58例(29.74%)>10～30 s、20例(10.26%)>30～60 s,散發(fā)性131例(67.18%)、家族性64例(32.82%),78例(40%)未服用藥物,117例(60%)服用抗癲藥物患者中106例癥狀完全控制、8例偶有發(fā)作、3例未見(jiàn)明顯緩解.其中,家族性組發(fā)病年齡低于(t=2.376,P=0.019)、發(fā)作持續(xù)時(shí)間短于(χ2=7.731,P=0.021)散發(fā)性組.結(jié)論通過(guò)大樣本臨床數(shù)據(jù)分析和總結(jié)中國(guó)發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙臨床表型特點(diǎn),以期為臨床診斷與治療提供幫助.

運(yùn)動(dòng)障礙; 表型

發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙[PKD,在線人類孟德?tīng)栠z傳數(shù)據(jù)庫(kù)(OMIM)編號(hào):128200]是發(fā)作性運(yùn)動(dòng)障礙的最常見(jiàn)類型,系一組突然動(dòng)作誘發(fā)的非隨意性運(yùn)動(dòng)障礙性疾病,發(fā)作時(shí)以異常運(yùn)動(dòng)或姿勢(shì)為特征,如肌張力障礙、舞蹈樣動(dòng)作、手足徐動(dòng)、投擲樣動(dòng)作等,可持續(xù)數(shù)秒至數(shù)十秒,發(fā)作間期正常[1].自2011年首個(gè)致病基因PRRT2基因克隆以來(lái),發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙在分子生物學(xué)和功能影像學(xué)等領(lǐng)域取得顯著進(jìn)展[2?8],逐漸受到臨床醫(yī)師和研究者們的關(guān)注.本研究回顧分析195例發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者的臨床資料,總結(jié)中國(guó)發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙的臨床表型特點(diǎn).

對(duì)象與方法

一、研究對(duì)象

選擇2008年8月-2016年12月在上海交通大學(xué)醫(yī)學(xué)院附屬瑞金醫(yī)院神經(jīng)科就診的原發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者共195例,均符合原發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙診斷標(biāo)準(zhǔn)[1]:由突然動(dòng)作誘發(fā);發(fā)作持續(xù)時(shí)間短暫(<1 min);發(fā)作期意識(shí)清晰;發(fā)病年齡1～20歲,如有家族史,發(fā)病年齡適當(dāng)增寬;苯妥英鈉或卡馬西平可以有效控制癲發(fā)作;神經(jīng)系統(tǒng)檢查和神經(jīng)電生理學(xué)檢查正常;同時(shí)能夠配合完整的神經(jīng)系統(tǒng)查體和詳細(xì)的病史采集.排除其他繼發(fā)性因素,如癲、多發(fā)性硬化(MS)、中樞神經(jīng)系統(tǒng)感染、代謝性疾病(如甲狀腺功能減退癥或甲狀腺功能亢進(jìn)癥)、心源性運(yùn)動(dòng)障礙等.本研究經(jīng)上海交通大學(xué)醫(yī)學(xué)院附屬瑞金醫(yī)院道德倫理委員會(huì)審核批準(zhǔn),所有患者及其家屬均知情同意并簽署知情同意書(shū).

二、研究方法

1.臨床資料采集 采用上海交通大學(xué)醫(yī)學(xué)院附屬瑞金醫(yī)院神經(jīng)科自行設(shè)計(jì)的發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙登記表,由神經(jīng)科醫(yī)師和研究生記錄并整理發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者的臨床資料,包括性別,年齡,發(fā)病年齡,發(fā)作類型,嬰兒驚厥、偏頭痛、發(fā)作性共濟(jì)失調(diào)等其他發(fā)作性疾病病史,合并癥,先兆比例,發(fā)作形式,累及部位,面部受累,發(fā)作頻率,發(fā)作持續(xù)時(shí)間,家族史,自愈傾向等,將上述臨床資料錄入計(jì)算機(jī)并建立數(shù)據(jù)庫(kù),比較家族性與散發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙臨床表型特點(diǎn).

2.統(tǒng)計(jì)分析方法 采用SPSS 16.0統(tǒng)計(jì)軟件進(jìn)行數(shù)據(jù)處理與分析.計(jì)數(shù)資料以相對(duì)數(shù)構(gòu)成比(%)或率(%)表示,采用χ2檢驗(yàn);計(jì)量資料以均數(shù)±標(biāo)準(zhǔn)差(x±s)表示,采用兩獨(dú)立樣本的t檢驗(yàn).以P≤0.05為差異具有統(tǒng)計(jì)學(xué)意義.

結(jié) 果

一、發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙的臨床表型

195例發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者,男性159例,女性36例;年齡8～65歲,平均(29.43±13.41)歲;發(fā)病年齡4個(gè)月至27歲,平均(12.32±3.49)歲,其中161例(82.56%)于7～15歲(青少年期)發(fā)病;單純型發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙162例(83.08%),復(fù)雜型發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙33例(16.92%),其中19例有嬰兒驚厥病史、13例有偏頭痛病史、1例有發(fā)作性共濟(jì)失調(diào)病史;合并特發(fā)性震顫16例(8.21%);所有患者(195例,100%)均由突然動(dòng)作誘發(fā),亦可由突然加速(137例,70.26%)和意圖動(dòng)作(67例,34.36%)誘發(fā),其中114例(58.46%)和36例(18.46%)分別于情緒緊張和疲勞狀態(tài)下癥狀加重;144例(73.85%)發(fā)作前有先兆,主要來(lái)自單側(cè)或雙側(cè)肢體遠(yuǎn)端并向近端蔓延;發(fā)作形式包括肌張力障礙(134例,68.72%)、舞蹈樣動(dòng)作(8例,4.10%)和二者混合形式(53例,27.18%);發(fā)作時(shí)80例(41.03%)累及單側(cè)肢體,43例(22.05%)累及雙側(cè)肢體,49例(25.13%)累及單側(cè)或雙側(cè)肢體,23例(11.79%)雙側(cè)交替發(fā)作;134例(68.72%)發(fā)作時(shí)有面部障礙,表現(xiàn)為表情僵硬、瞪眼、齜牙、咧嘴和構(gòu)音障礙等;115例(58.97%)發(fā)作頻率<10次/d,54例(27.69%)發(fā)作頻率為10～20次/d,26例(13.33%)發(fā)作頻率>20～30次/d;117例(60%)發(fā)作持續(xù)時(shí)間<10 s、58例(29.74%)10～30 s、20例(10.26%)>30～60 s;散發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙131例(67.18%),家族性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙64例(32.82%);83例(42.56%)完全或不完全自愈,自愈年齡19～34歲、平均(21.51±4.42)歲;78例(40%)未服用藥物,117例(60%)服用抗癲藥物(AEDs)患者中89例予卡馬西平、17例予奧卡西平、11例予其他抗癲藥物(如苯妥英鈉、托吡酯、丙戊酸鈉、拉莫三嗪和氯硝西泮);服用卡馬西平(50～100 mg/d)的89例患者中86例完全控制、2例部分控制、1例未見(jiàn)明顯緩解,服用奧卡西平(75～150 mg/d)的17例患者中13例癥狀完全控制、4例部分控制,總體而言,服用抗癲藥物的117例患者中106例(90.60%)癥狀完全控制、8例(6.84%)發(fā)作頻率下降但偶有發(fā)作、3例(2.56%)未見(jiàn)明顯緩解(1例予卡馬西平,2例予丙戊酸鈉).

二、家族性與散發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙的臨床表型比較

195例發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者根據(jù)是否有家族史分為家族性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙組(家族性組)和散發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙組(散發(fā)性組).(1)家族性組:64例患者,男性48例,女性16例;年齡8～65歲,平均(30.09±11.55)歲;發(fā)病年齡4個(gè)月至27歲,平均(11.48±3.83)歲;單純型發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙54例(84.38%),復(fù)雜型發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙10例(15.63%),其中3例有嬰兒驚厥病史、7例偏頭痛病史;合并特發(fā)性震顫6例(9.38%);44例(68.75%)發(fā)作前有先兆;發(fā)作形式表現(xiàn)為肌張力障礙50例(78.13%)、舞蹈樣動(dòng)作2例(3.13%)和二者混合形式12例(18.75%);發(fā)作時(shí)25例(39.06%)累及單側(cè)肢體,12例(18.75%)累及雙側(cè)肢體,14例(21.88%)累及單側(cè)或雙側(cè)肢體,13例(20.31%)雙側(cè)交替發(fā)作;47例(73.44%)發(fā)作時(shí)累及面部;39例(60.94%)發(fā)作頻率 <10次/d,17例(26.56%)10～20次/d,8例(12.50%)>20～30次/d;47例(73.44%)發(fā)作持續(xù)時(shí)間 <10 s、14例(21.88%)為10～30 s、3例(4.69%)>30～60 s;39例(60.94%)未服用藥物,25例(39.06%)服用抗癲藥物患者中23例癥狀完全控制、2例部分控制.(2)散發(fā)性組:131例患者,男性111例,女性20例;年齡9～41歲,平均(23.70±18.01)歲;發(fā)病年齡6～23歲,平均(12.73±3.25)歲;單純型發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙108例(82.44%),復(fù)雜型發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙23例(17.56%),其中16例有嬰兒驚厥病史、6例偏頭痛病史、1例發(fā)作性共濟(jì)失調(diào)病史;合并特發(fā)性震顫10例(7.63%);100例(76.34%)發(fā)作前有先兆;發(fā)作形式表現(xiàn)為肌張力障礙84例(64.12%)、舞蹈樣動(dòng)作6例(4.58%)和二者混合形式41例(31.30%);發(fā)作時(shí)55例(41.98%)累及單側(cè)肢體,31例(23.66%)累及雙側(cè)肢體,35例(26.72%)累及單側(cè)或雙側(cè)肢體,10例(7.63%)雙側(cè)交替發(fā)作;87例(66.41%)發(fā)作時(shí)累及面部;76例(58.02%)發(fā)作頻率<10次/d,37例(28.24%)發(fā)作頻率10～20次/d,18例(13.74%)>20～30次/d;70例(53.44%)發(fā)作持續(xù)時(shí)間 <10 s、44例(33.59%)10～30 s、17例(12.98%)>30～60 s;39例(29.77%)未服用藥物,92例(70.23%)服用抗癲藥物患者中83例癥狀完全控制、6例部分控制、3例未見(jiàn)明顯緩解.由表1可見(jiàn),兩組患者臨床表型比較,性別、發(fā)作類型、合并癥、先兆比例、發(fā)作形式、累及部位、面部受累、發(fā)作頻率、服用抗癲藥物比例和藥物療效差異無(wú)統(tǒng)計(jì)學(xué)意義(均P>0.05),而家族性組發(fā)病年齡低于(P=0.019)、發(fā)作持續(xù)時(shí)間短于(P=0.021)散發(fā)性組且差異有統(tǒng)計(jì)學(xué)意義.

表1 家族性組與散發(fā)性組患者臨床表型的比較Table 1. Comparison of general data between familial and sporadic PKD patients

討 論

發(fā)作性運(yùn)動(dòng)障礙是一類以反復(fù)發(fā)作的非隨意性運(yùn)動(dòng)障礙為主要特征的罕見(jiàn)神經(jīng)系統(tǒng)疾病,具有高度臨床異質(zhì)性和遺傳異質(zhì)性.發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙是發(fā)作性運(yùn)動(dòng)障礙的最常見(jiàn)類型[9],按照病因可以分為原發(fā)性和繼發(fā)性,其中,原發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙根據(jù)有無(wú)家族史又分為家族性和散發(fā)性,家族性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙呈常染色體顯性遺傳.2011年首次證實(shí)PRRT2基因是發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙的致病基因之一,定位于16p11.2,包含4個(gè)外顯子,熱點(diǎn)突變?yōu)閏.649dupC(p.Arg217ProfsX8)[2?3,10?11],編碼富含脯氨酸跨膜蛋白2(PRRT2).PRRT2蛋白是由340個(gè)氨基酸組成的一次跨膜蛋白,其氨基末端(N末端)較長(zhǎng)朝向胞內(nèi),羧基末端(C末端)較短朝向胞外[12].PRRT2蛋白表達(dá)于神經(jīng)元突觸,通過(guò)與突觸結(jié)合蛋白1/2(Syt1/2)相互作用參與鈣離子的快速識(shí)別,從而參與神經(jīng)遞質(zhì)的釋放過(guò)程[13?14].嬰兒驚厥、良性家族性嬰兒驚厥(BFIS)、嬰兒驚厥伴陣發(fā)性舞蹈手足徐動(dòng)癥、家族性偏癱型偏頭痛、發(fā)作性共濟(jì)失調(diào)、熱性驚厥、偏頭痛、發(fā)作性非運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙及家族性和散發(fā)性發(fā)作性過(guò)度運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者也存在PRRT2基因突變.提示上述發(fā)作性疾病包括發(fā)作性動(dòng)作誘發(fā)性運(yùn)動(dòng)障礙可能屬PRRT2基因相關(guān)疾病譜范疇,統(tǒng)稱為PRRT2相關(guān)疾病(PRD)[15?18].在目前報(bào)道的病例中,約61.5%家族性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙為PRRT2基因突變所致,此外,尚有12.5%～89.5%散發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙無(wú)PRRT2基因突變[5,19?20],提示存在除PRRT2基因外的其他可能致病基因.

在本研究中,發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者發(fā)病年齡4個(gè)月至27歲,以7～15歲青少年為高發(fā),男女比例4.42∶1,散發(fā)性病例男女比例5.55∶1.發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙多由突然動(dòng)作誘發(fā),如起立、接電話或起跑等,運(yùn)動(dòng)速度和幅度改變以及意圖動(dòng)作或在持續(xù)動(dòng)作中加入其他動(dòng)作時(shí)可誘發(fā),此外情緒緊張、疲勞等亦可誘發(fā).73.85%患者發(fā)作前有發(fā)作預(yù)感,表現(xiàn)為受累肢體無(wú)力感、受累部位肌肉緊張感、淺感覺(jué)不一和頭暈等.部分患者在先兆癥狀后通過(guò)減慢患肢動(dòng)作以阻止發(fā)作.發(fā)作形式包括肌張力障礙、舞蹈樣動(dòng)作或混合發(fā)作,多為單側(cè)發(fā)作,亦可雙側(cè)同時(shí)或交替發(fā)作.同一家系發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者臨床表現(xiàn)相似[15].有2/3患者發(fā)作時(shí)累及面部肌肉,出現(xiàn)擠眉弄眼和構(gòu)音障礙.發(fā)作頻率多于青春期達(dá)高峰,自發(fā)緩解年齡為20～30歲,部分患者30歲后很少發(fā)作甚至完全自愈.比較家族性與散發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙患者的臨床表型特點(diǎn),發(fā)現(xiàn)家族性患者發(fā)病年齡較早、發(fā)作持續(xù)時(shí)間較短,而其他臨床表現(xiàn)無(wú)差異.原發(fā)性發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙應(yīng)與癲、心源性運(yùn)動(dòng)障礙、癔癥、特發(fā)性肌張力障礙、先天性肌強(qiáng)直等相鑒別,并排除可能的繼發(fā)性因素,如顱腦創(chuàng)傷、中樞神經(jīng)系統(tǒng)腫瘤、中樞神經(jīng)系統(tǒng)感染、甲狀腺疾病和自身免疫性疾病等[1,21?23].

綜上所述,本研究從大樣本水平描述和總結(jié)中國(guó)發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙的臨床表型特點(diǎn),并比較家族性與散發(fā)性患者臨床表型差異.在臨床實(shí)踐中,應(yīng)進(jìn)一步提高臨床醫(yī)師對(duì)發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙的認(rèn)識(shí),重視臨床醫(yī)師(包括神經(jīng)內(nèi)科和兒科醫(yī)師)的培訓(xùn),明確診斷標(biāo)準(zhǔn)和鑒別診斷要點(diǎn),幫助患者第一時(shí)間診斷,并使其明確經(jīng)合理的藥物治療可以有效控制疾病,且隨年齡的增長(zhǎng)可能出現(xiàn)自發(fā)性緩解.盡管發(fā)作性運(yùn)動(dòng)誘發(fā)性運(yùn)動(dòng)障礙的發(fā)病機(jī)制以及臨床表型與基因型的關(guān)系尚未明確,但隨著研究的不斷深入,其臨床異質(zhì)性和遺傳異質(zhì)性之謎將被解開(kāi),同時(shí)也將給新致病基因的發(fā)現(xiàn)和發(fā)病機(jī)制的研究提供新的視野.

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Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia

TIAN Wo?tu1,HUANG Xiao?jun2,SHEN Jun?yi1,XU Yang?qi1,CHEN Sheng?di1,CAO Li11Department of Neurology and Institute of Neurology,Ruijin Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai 200025,China
2Department of Neurology,North Department of Ruijin Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai 201801,China

CAO Li(Email:caoli2000@yeah.net)

BackgroundParoxysmal kinesigenic dyskinesia(PKD)is a disorder characterized by recurrent and brief dystonic or choreoathetoid attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity.We aimed to investigate the clinical features of PKD in a large Chinese population.MethodsOne hundred and ninety five patients diagnosed as primary PKD were recruited.For all of the participants,neurological examinations were conducted and clinical manifestations were recorded and summarized in self?made uniform registration form for PKD patients. Clinical characteristics were statistically analyzed and compared between familial and sporadic PKD patients.ResultsAmong all of the 195 PKD patients in the present study,the gender ratio was 4.42∶1(male∶female).The average age of onset was(12.32±3.49)years.There were 162 patients(83.08%)manifestated with pure form and 33(16.92%)with complicated form of PKD.Among them 16 patients(8.21%)had essential tremor(ET),and 144 patients(73.85%)had premonitory symptom.The percentage of patients manifested as dystonia,chorea and mixed form during episodic attacks were 68.72%(134/195),4.10%(8/195)and 27.18%(53/195)repectively.There were 134 cases(68.72%)had facial involvement.It was recorded that 115(58.97%),54(27.69%)and 26(13.33%)patients had frequency of attack<10 times/d,10-20 times/d and>20-30 times/d respectively. The percentages of patients whose duration of attack<10 s,10-30 s and>30-60 s were 60%(117/195),29.74%(58/195)and 10.26%(20/195)respectively.There were 64 patietns(32.82%)with family history of PKD and 131(67.18%)were sporadic PKD patients.Up to 40%(78/195)of patients did not require/take medications,as they had minor clinical manifestations or concerns about the side effects of anticonvulsants. Among 117 patients(60%)prescribed with anticonvulsants,114 patients showed a good response,including complete control(N=106)and partial control(N=8),and 3 patients were nonresponsive.In comparison with sporadic PKD patients,familial PKD patients had earlier age of onset(t=2.376,P=0.019)and shorter duration of attack(χ2=7.731,P=0.021)respectively.ConclusionsWe summarized the clinical characteristics of PKD patients in mainland China.Through the analysis of large sample data,we hope to improve and standardize the diagnosis and treatment of PKD clinically.

Movement disorders; Phenotype

10.3969/j.issn.1672?6731.2017.07.006

國(guó)家自然科學(xué)基金資助項(xiàng)目(項(xiàng)目編號(hào):81571086);國(guó)家自然科學(xué)基金資助項(xiàng)目(項(xiàng)目編號(hào):81271262);國(guó)家自然科學(xué)基金青年科學(xué)基金資助項(xiàng)目(項(xiàng)目編號(hào):81600978);上海交通大學(xué)醫(yī)學(xué)院高峰高原計(jì)劃(項(xiàng)目編號(hào):20161401);上海交通大學(xué)"醫(yī)工交叉研究基金"資助項(xiàng)目(項(xiàng)目編號(hào):YG2016MS64);上海交通大學(xué)醫(yī)學(xué)院"大學(xué)生創(chuàng)新訓(xùn)練計(jì)劃"(項(xiàng)目編號(hào):2015045)

200025上海交通大學(xué)醫(yī)學(xué)院附屬瑞金醫(yī)院神經(jīng)科 上海交通大學(xué)醫(yī)學(xué)院神經(jīng)病學(xué)研究所(田沃土,沈雋逸,徐洋奇,陳生弟,曹立);201801上海交通大學(xué)醫(yī)學(xué)院附屬瑞金醫(yī)院北院神經(jīng)內(nèi)科(黃嘯君)

曹立(Email:caoli2000@yeah.net)

This study was supported by the National Natural Science Foundation of China(No.81571086,81271262),the National Natural Science Foundation of China for Young Scientists(No.81600978),Shanghai Jiaotong University School of Medicine Peak and Plateau Program(No.20161401),Crossing Program between Medicine and Industry supported by Shanghai Jiaotong University(No.YG2016MS64),and Shanghai Jiaotong University School of Medicine Undergraduate Innovation Training Program(No.2015045).

2017?06?20)