Sex-specific effects of the Huntington gene on normal neurodevelopment.
Sex-specific effects of the Huntington gene on normal neurodevelopment.
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DOI：
10.1002/jnr.23980
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发表时间：
2017-01-02
影响因子：
4.2
通讯作者：
Nopoulos P
中科院分区：
文献类型：
--
作者：
Lee JK;Ding Y;Conrad AL;Cattaneo E;Epping E;Mathews K;Gonzalez-Alegre P;Cahill L;Magnotta V;Schlaggar BL;Perlmutter JS;Kim RE;Dawson JD;Nopoulos P
亨廷顿舞蹈病是一种神经退行性疾病，由一种基因（HTT）引起，该基因在健康人中具有独特的三核苷酸重复序列特征，范围为10至35;当扩展超过39个重复序列时，就会发生亨廷顿舞蹈病。动物模型表明HTT对大脑发育至关重要;然而，这尚未在人类中进行研究。此外，有证据表明，三重重复基因可能在人类大脑的进化中至关重要。在这里，我们评估大脑结构使用磁共振成像和大脑功能使用认知测试在学龄儿童年龄在6至18岁的样本。处理DNA样品以定量HTT内CAG重复的数目。我们发现，HTT中的重复次数低于疾病阈值，会使大脑结构和一般智力（IQ）发生有利的变化：重复次数越多，大脑结构的变化越大，IQ也越高。与HTT相关的大脑结构变化模式在男性和女性之间有着显著的不同。HTT可以根据重复长度赋予优势或劣势，在上级人脑的进化或独特的人脑疾病的发展中起关键作用。
Huntington disease is a neurodegenerative disorder caused by a gene (HTT) with a unique feature of trinucleotide repeats ranging from 10 to 35 in healthy people; when expanded beyond 39 repeats, Huntington disease develops. Animal models demonstrate that HTT is vital to brain development; however, this has not been studied in humans. Moreover, evidence suggests that triplet repeat genes may have been vital in evolution of the human brain. Here we evaluate brain structure using magnetic resonance imaging and brain function using cognitive tests in a sample of school-aged children ages 6 to 18 years old. DNA samples were processed to quantify the number of CAG repeats within HTT. We find that the number of repeats in HTT, below disease threshold, confers advantageous changes in brain structure and general intelligence (IQ): the higher the number of repeats, the greater the change in brain structure, and the higher the IQ. The pattern of structural brain changes associated with HTT is strikingly different between males and females. HTT may confer an advantage or a disadvantage depending on the repeat length, playing a key role in either the evolution of a superior human brain or development of a uniquely human brain disease.
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影响因子：
6.1
作者：
Nopoulos, Peggy C.;Aylward, Elizabeth H.;Ross, Christopher A.;Johnson, Hans J.;Magnotta, Vincent A.;Juhl, Andrew R.;Pierson, Ronald K.;Mills, James;Langbehn, Douglas R.;Paulsen, Jane S.
通讯作者：
Paulsen, Jane S.
影响因子：
17.7
作者：
Nopoulos, Peg;Magnotta, Vincent A.;Paulsen, Jane S.
通讯作者：
Paulsen, Jane S.
影响因子：
5.7
作者：
Lerch, Jason P.;Carroll, Jeffrey B.;Henkelman, R. Mark
通讯作者：
Henkelman, R. Mark
影响因子：
64.8
作者：
Hibar, Derrek P.;Stein, Jason L.;Renteria, Miguel E.;Arias-Vasquez, Alejandro;Desrivieres, Sylvane;Jahanshad, Neda;Toro, Roberto;Wittfeld, Katharina;Abramovic, Lucija;Andersson, Micael;Aribisala, Benjamin S.;Armstrong, Nicola J.;Bernard, Manon;Bohlken, Marc M.;Boks, Marco P.;Bralten, Janita;Brown, Andrew A.;Chakravarty, M. Mallar;Chen, Qiang;Ching, Christopher R. K.;Cuellar-Partida, Gabriel;den Braber, Anouk;Giddaluru, Sudheer;Goldman, Aaron L.;Grimm, Oliver;Guadalupe, Tulio;Hass, Johanna;Woldehawariat, Girma;Holmes, Avram J.;Hoogman, Martine;Janowitz, Deborah;Jia, Tianye;Kim, Sungeun;Klein, Marieke;Kraemer, Bernd;Lee, Phil H.;Loohuis, Loes M. Olde;Luciano, Michelle;Macare, Christine;Mather, Karen A.;Mattheisen, Manuel;Milaneschi, Yuri;Nho, Kwangsik;Papmeyer, Martina;Ramasamy, Adaikalavan;Risacher, Shannon L.;Roiz-Santianez, Roberto;Rose, Emma J.;Salami, Alireza;Saemann, Philipp G.;Schmaal, Lianne;Schork, Andrew J.;Shin, Jean;Strike, Lachlan T.;Teumer, Alexander;van Donkelaar, Marjolein M. J.;van Eijk, Kristel R.;Walters, Raymond K.;Westlye, Lars T.;Whelan, Christopher D.;Winkler, Anderson M.;Zwiers, Marcel P.;Alhusaini, Saud;Athanasiu, Lavinia;Ehrlich, Stefan;Hakobjan, Marina M. H.;Hartberg, Cecilie B.;Haukvik, Unn K.;Heister, Angelien J. G. A. M.;Hoehn, David;Kasperaviciute, Dalia;Liewald, David C. M.;Lopez, Lorna M.;Makkinje, Remco R. R.;Matarin, Mar;Naber, Marlies A. M.;McKay, D. Reese;Needham, Margaret;Nugent, Allison C.;Puetz, Benno;Royle, Natalie A.;Shen, Li;Sprooten, Emma;Trabzuni, Daniah;van der Marel, Saskia S. L.;van Hulzen, Kimm J. E.;Walton, Esther;Wolf, Christiane;Almasy, Laura;Ames, David;Arepalli, Sampath;Assareh, Amelia A.;Bastin, Mark E.;Brodaty, Henry;Bulayeva, Kazima B.;Carless, Melanie A.;Cichon, Sven;Corvin, Aiden;Curran, Joanne E.;Czisch, Michael;de Zubicaray, Greig I.;Dillman, Allissa;Duggirala, Ravi;Dyer, Thomas D.;Erk, Susanne;Fedko, Iryna O.;Ferrucci, Luigi;Foroud, Tatiana M.;Fox, Peter T.;Fukunaga, Masaki;Gibbs, J. Raphael;Goering, Harald H. H.;Green, Robert C.;Guelfi, Sebastian;Hansell, Narelle K.;Hartman, Catharina A.;Hegenscheid, Katrin;Heinz, Andreas;Hernandez, Dena G.;Heslenfeld, Dirk J.;Hoekstra, Pieter J.;Holsboer, Florian;Homuth, Georg;Hottenga, Jouke-Jan;Ikeda, Masashi;Jack, Clifford R., Jr.;Jenkinson, Mark;Johnson, Robert;Kanai, Ryota;Keil, Maria;Kent, Jack W., Jr.;Kochunov, Peter;Kwok, John B.;Lawrie, Stephen M.;Liu, Xinmin;Longo, Dan L.;McMahon, Katie L.;Meisenzah, Eva;Melle, Ingrid;Mahnke, Sebastian;Montgomery, Grant W.;Mostert, Jeanette C.;Muehleisen, Thomas W.;Nalls, Michael A.;Nichols, Thomas E.;Nilsson, Lars G.;Noethen, Markus M.;Ohi, Kazutaka;Olvera, Rene L.;Perez-Iglesias, Rocio;Pike, G. Bruce;Potkin, Steven G.;Reinvang, Ivar;Reppermund, Simone;Rietschel, Marcella;Romanczuk-Seiferth, Nina;Rosen, Glenn D.;Rujescu, Dan;Schnell, Knut;Schofield, Peter R.;Smith, Colin;Steen, Vidar M.;Sussmann, Jessika E.;Thalamuthu, Anbupalam;Toga, Arthur W.;Traynor, Bryan J.;Troncoso, Juan;Turner, Jessica A.;Valdes Hernandez, Maria C.;van't Ent, Dennis;van der Brug, Marcel;van der Wee, Nic J. A.;van Tol, Marie-Jose;Veltman, Dick J.;Wassink, Thomas H.;Westman, Eric;Zielke, Ronald H.;Zonderman, Alan B.;Ashbrook, David G.;Hager, Reinmar;Lu, Lu;McMahon, Francis J.;Morris, Derek W.;Williams, Robert W.;Brunner, Han G.;Buckner, Randy L.;Buitelaar, Jan K.;Cahn, Wiepke;Calhoun, Vince D.;Cavalleri, Gianpiero L.;Crespo-Facorro, Benedicto;Dale, Anders M.;Davies, Gareth E.;Delanty, Norman;Depondt, Chantal;Djurovic, Srdjan;Drevets, Wayne C.;Espeseth, Thomas;Gollub, Randy L.;Ho, Beng-Choon;Hoffman, Wolfgang;Hosten, Norbert;Kahn, Rene S.;Le Hellard, Stephanie;Meyer-Lindenberg, Andreas;Mueller-Myhsok, Bertram;Nauck, Matthias;Nyberg, Lars;Pandolfo, Massimo;Penninx, Brenda W. J. H.;Roffman, Joshua L.;Sisodiya, Sanjay M.;Smoller, Jordan W.;van Bokhoven, Hans;van Haren, Neeltje E. M.;Voelzke, Henry;Walter, Henrik;Weiner, Michael W.;Wen, Wei;White, Tonya;Agartz, Ingrid;Andreassen, Ole A.;Blangero, John;Boomsma, Dorret I.;Brouwer, Rachel M.;Cannon, Dara M.;Cookson, Mark R.;de Geus, Eco J. C.;Deary, Ian J.;Donohoe, Gary;Fernandez, Guillen;Fisher, Simon E.;Francks, Clyde;Glahn, David C.;Grabe, Hans J.;Gruber, Oliver;Hardy, John;Hashimoto, Ryota;Pol, Hilleke E. Hulshoff;Joensson, Erik G.;Kloszewska, Iwona;Lovestone, Simon;Mattay, Venkata S.;Mecocci, Patrizia;McDonald, Colm;McIntosh, Andrew M.;Ophoff, Roel A.;Paus, Tomas;Pausova, Zdenka;Ryten, Mina;Sachdev, Perminder S.;Saykin, Andrew J.;Simmons, Andy;Singleton, Andrew;Soininen, Hilkka;Wardlaw, Joanna M.;Weale, Michael E.;Weinberger, Daniel R.;Adams, Hieab H. H.;Launer, Lenore J.;Seiler, Stephan;Schmidt, Reinhold;Chauhan, Ganesh;Satizabal, Claudia L.;Becker, James T.;Yanek, Lisa;van der Lee, Sven J.;Ebling, Maritza;Fischl, Bruce;Longstreth, W. T., Jr.;Greve, Douglas;Schmidt, Helena;Nyquist, Paul;Vinke, Louis N.;van Duijn, Cornelia M.;Xue, Luting;Mazoyer, Bernard;Bis, Joshua C.;Gudnason, Vilmundur;Seshadri, Sudha;Ikram, M. Arfan;Martin, Nicholas G.;Wright, Margaret J.;Schumann, Gunter;Franke, Barbara;Thompson, Paul M., Jr.;Medland, Sarah E.
通讯作者：
Medland, Sarah E.
影响因子：
11
作者：
Plomin, R.;Deary, I. J.
通讯作者：
Deary, I. J.