Motor hyperactivation during cognitive tasks: An endophenotype of juvenile myoclonic epilepsy.
Motor hyperactivation during cognitive tasks: An endophenotype of juvenile myoclonic epilepsy.
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作者：
Caciagli L;Wandschneider B;Centeno M;Vollmar C;Vos SB;Trimmel K;Long L;Xiao F;Lowe AJ;Sidhu MK;Thompson PJ;Winston GP;Duncan JS;Koepp MJ
青少年肌阵挛癫痫(JME)是最常见的遗传性全身性癫痫综合征。肌阵挛可能与运动系统的过度兴奋有关，并可由认知活动引起。为了辅助复杂神经精神疾病的遗传图谱，最近的研究利用了成像中间表型(内表型)。在这里，我们的目标是(A)表征JME患者及其未受影响的同胞在不同认知任务中运动系统的激活情况，并(B)验证这些是否为JME的内表型。这项前瞻性横断面调查包括32名JME患者、12名未受影响的兄弟姐妹和26名对照，他们在年龄、性别、利手、语言偏侧性、神经心理表现以及焦虑和抑郁评分方面具有可比性。我们研究了情景记忆编码和动词生成功能磁共振成像(FMRI)任务中运动系统的激活模式。在这两项任务中，与对照组相比，患者和未受影响的兄弟姐妹表现出运动系统区域的激活增加。在记忆编码过程中，这种影响更为显著，这需要通过操纵杆的反应来进行手部运动。亚组分析发现，与无癫痫发作的患者相比，持续癫痫发作的JME患者运动皮质的激活更强。基于运动激活测量的接受者操作特征曲线准确地将JME患者及其兄弟姐妹与健康对照组区分开来(曲线下面积：JME患者和合并的患者-兄弟姐妹组与对照组分别为0.75和0.77；P<0.05)。运动系统过度激活代表了JME的一种认知的、领域无关的内表型。我们提出了运动系统激活的测量方法，作为未来对该综合征进行基因成像研究的数量性状。
Juvenile myoclonic epilepsy (JME) is the most common genetic generalized epilepsy syndrome. Myoclonus may relate to motor system hyperexcitability and can be provoked by cognitive activities. To aid genetic mapping in complex neuropsychiatric disorders, recent research has utilized imaging intermediate phenotypes (endophenotypes). Here, we aimed to (a) characterize activation profiles of the motor system during different cognitive tasks in patients with JME and their unaffected siblings, and (b) validate those as endophenotypes of JME. This prospective cross‐sectional investigation included 32 patients with JME, 12 unaffected siblings, and 26 controls, comparable for age, sex, handedness, language laterality, neuropsychological performance, and anxiety and depression scores. We investigated patterns of motor system activation during episodic memory encoding and verb generation functional magnetic resonance imaging (fMRI) tasks. During both tasks, patients and unaffected siblings showed increased activation of motor system areas compared to controls. Effects were more prominent during memory encoding, which entailed hand motion via joystick responses. Subgroup analyses identified stronger activation of the motor cortex in JME patients with ongoing seizures compared to seizure‐free patients. Receiver‐operating characteristic curves, based on measures of motor activation, accurately discriminated both patients with JME and their siblings from healthy controls (area under the curve: 0.75 and 0.77, for JME and a combined patient‐sibling group against controls, respectively; P < .005). Motor system hyperactivation represents a cognitive, domain‐independent endophenotype of JME. We propose measures of motor system activation as quantitative traits for future genetic imaging studies in this syndrome.
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人脑网络组图谱：基于连接架构的新大脑图谱
DOI：
10.1093/cercor/bhw157
发表时间：
2016-08
期刊：
Cerebral cortex (New York, N.Y. : 1991)
影响因子：
--
作者：
Fan L;Li H;Zhuo J;Zhang Y;Wang J;Chen L;Yang Z;Chu C;Xie S;Laird AR;Fox PT;Eickhoff SB;Yu C;Jiang T
通讯作者：
Jiang T
影响因子：
3.7
作者：
Alhusaini, Saud;Whelan, Christopher D.;Cavalleri, Gianpiero L.
通讯作者：
Cavalleri, Gianpiero L.
与海马体积相关的新型遗传基因座。
影响因子：
16.6
作者：
Hibar DP;Adams HHH;Jahanshad N;Chauhan G;Stein JL;Hofer E;Renteria ME;Bis JC;Arias-Vasquez A;Ikram MK;Desrivières S;Vernooij MW;Abramovic L;Alhusaini S;Amin N;Andersson M;Arfanakis K;Aribisala BS;Armstrong NJ;Athanasiu L;Axelsson T;Beecham AH;Beiser A;Bernard M;Blanton SH;Bohlken MM;Boks MP;Bralten J;Brickman AM;Carmichael O;Chakravarty MM;Chen Q;Ching CRK;Chouraki V;Cuellar-Partida G;Crivello F;Den Braber A;Doan NT;Ehrlich S;Giddaluru S;Goldman AL;Gottesman RF;Grimm O;Griswold ME;Guadalupe T;Gutman BA;Hass J;Haukvik UK;Hoehn D;Holmes AJ;Hoogman M;Janowitz D;Jia T;Jørgensen KN;Karbalai N;Kasperaviciute D;Kim S;Klein M;Kraemer B;Lee PH;Liewald DCM;Lopez LM;Luciano M;Macare C;Marquand AF;Matarin M;Mather KA;Mattheisen M;McKay DR;Milaneschi Y;Muñoz Maniega S;Nho K;Nugent AC;Nyquist P;Loohuis LMO;Oosterlaan J;Papmeyer M;Pirpamer L;Pütz B;Ramasamy A;Richards JS;Risacher SL;Roiz-Santiañez R;Rommelse N;Ropele S;Rose EJ;Royle NA;Rundek T;Sämann PG;Saremi A;Satizabal CL;Schmaal L;Schork AJ;Shen L;Shin J;Shumskaya E;Smith AV;Sprooten E;Strike LT;Teumer A;Tordesillas-Gutierrez D;Toro R;Trabzuni D;Trompet S;Vaidya D;Van der Grond J;Van der Lee SJ;Van der Meer D;Van Donkelaar MMJ;Van Eijk KR;Van Erp TGM;Van Rooij D;Walton E;Westlye LT;Whelan CD;Windham BG;Winkler AM;Wittfeld K;Woldehawariat G;Wolf C;Wolfers T;Yanek LR;Yang J;Zijdenbos A;Zwiers MP;Agartz I;Almasy L;Ames D;Amouyel P;Andreassen OA;Arepalli S;Assareh AA;Barral S;Bastin ME;Becker DM;Becker JT;Bennett DA;Blangero J;van Bokhoven H;Boomsma DI;Brodaty H;Brouwer RM;Brunner HG;Buckner RL;Buitelaar JK;Bulayeva KB;Cahn W;Calhoun VD;Cannon DM;Cavalleri GL;Cheng CY;Cichon S;Cookson MR;Corvin A;Crespo-Facorro B;Curran JE;Czisch M;Dale AM;Davies GE;De Craen AJM;De Geus EJC;De Jager PL;De Zubicaray GI;Deary IJ;Debette S;DeCarli C;Delanty N;Depondt C;DeStefano A;Dillman A;Djurovic S;Donohoe G;Drevets WC;Duggirala R;Dyer TD;Enzinger C;Erk S;Espeseth T;Fedko IO;Fernández G;Ferrucci L;Fisher SE;Fleischman DA;Ford I;Fornage M;Foroud TM;Fox PT;Francks C;Fukunaga M;Gibbs JR;Glahn DC;Gollub RL;Göring HHH;Green RC;Gruber O;Gudnason V;Guelfi S;Håberg AK;Hansell NK;Hardy J;Hartman CA;Hashimoto R;Hegenscheid K;Heinz A;Le Hellard S;Hernandez DG;Heslenfeld DJ;Ho BC;Hoekstra PJ;Hoffmann W;Hofman A;Holsboer F;Homuth G;Hosten N;Hottenga JJ;Huentelman M;Hulshoff Pol HE;Ikeda M;Jack CR Jr;Jenkinson M;Johnson R;Jönsson EG;Jukema JW;Kahn RS;Kanai R;Kloszewska I;Knopman DS;Kochunov P;Kwok JB;Lawrie SM;Lemaître H;Liu X;Longo DL;Lopez OL;Lovestone S;Martinez O;Martinot JL;Mattay VS;McDonald C;McIntosh AM;McMahon FJ;McMahon KL;Mecocci P;Melle I;Meyer-Lindenberg A;Mohnke S;Montgomery GW;Morris DW;Mosley TH;Mühleisen TW;Müller-Myhsok B;Nalls MA;Nauck M;Nichols TE;Niessen WJ;Nöthen MM;Nyberg L;Ohi K;Olvera RL;Ophoff RA;Pandolfo M;Paus T;Pausova Z;Penninx BWJH;Pike GB;Potkin SG;Psaty BM;Reppermund S;Rietschel M;Roffman JL;Romanczuk-Seiferth N;Rotter JI;Ryten M;Sacco RL;Sachdev PS;Saykin AJ;Schmidt R;Schmidt H;Schofield PR;Sigursson S;Simmons A;Singleton A;Sisodiya SM;Smith C;Smoller JW;Soininen H;Steen VM;Stott DJ;Sussmann JE;Thalamuthu A;Toga AW;Traynor BJ;Troncoso J;Tsolaki M;Tzourio C;Uitterlinden AG;Hernández MCV;Van der Brug M;van der Lugt A;van der Wee NJA;Van Haren NEM;van 't Ent D;Van Tol MJ;Vardarajan BN;Vellas B;Veltman DJ;Völzke H;Walter H;Wardlaw JM;Wassink TH;Weale ME;Weinberger DR;Weiner MW;Wen W;Westman E;White T;Wong TY;Wright CB;Zielke RH;Zonderman AB;Martin NG;Van Duijn CM;Wright MJ;Longstreth WT;Schumann G;Grabe HJ;Franke B;Launer LJ;Medland SE;Seshadri S;Thompson PM;Ikram MA
通讯作者：
Ikram MA
影响因子：
14.5
作者：
Badawy, Radwa A. B.;Vogrin, Simon J.;Cook, Mark J.
通讯作者：
Cook, Mark J.
影响因子：
5.6
作者：
Iqbal, Nasur;Caswell, Helen;Duncan, Susan
通讯作者：
Duncan, Susan