Autism: more evidence of a genetic cause

被引：7

作者：

Bourgeron, Thomas ^{[1
]}

Leboyer, Marion ^{[2
,3
]}

Delorme, Richard ^{[4
]}

机构：

[1] Inst Pasteur, Lab Genet Humaine & Fonct Cognit, F-75015 Paris, France

[2] Grp Hosp Chenevier Mondor, INSERM, Paris, France

[3] Fdn Cooperat Sci Fondamental, Paris, France

[4] Hop Robert Debre, Ctr Expert Asperger & Autisme Haut Niveau, F-75019 Paris, France

来源：

BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE | 2009年 / 193卷 / 02期

关键词：

AUTISTIC DISORDER; MAGNETIC RESONANCE IMAGING; POSITRON-EMISSION TOMOGRAPHY; SPECTRUM DISORDERS; MUTATIONS; NLGN4;

D O I：

10.1016/S0001-4079(19)32583-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Autism spectrum disorders (ASD) affect at least 11200 individuals. They arc, characterized by impaired communication skills and social interaction, as well as restricted, repetitive and stereotyped behaviours. Recent studies point to a role of a synaptic pathway, including synaptic cell adhesion molecules (neuroligins and neurexins) and scaffolding proteins (SHANK3). Abnormal synapse formation/maintenance and an imbalance between GABAergic and glutamatergic synaptic currents seem to be involved in the etiology of ASD.

引用

页码：299 / 304

页数：6

共 8 条

[1] Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders [J].

Durand, Christelle M. ;

Betancur, Catalina ;

Boeckers, Tobias M. ;

Bockmann, Juergen ;

Chaste, Pauline ;

Fauchereau, Fabien ;

Nygren, Gudrun ;

Rastam, Maria ;

Gillberg, I. Carina ;

Anckarsater, Henrik ;

Sponheim, Eili ;

Goubran-Botros, Hany ;

Delorme, Richard ;

Chabane, Nadia ;

Mouren-Simeoni, Marie-Christine ;

de Mas, Philippe ;

Bieth, Eric ;

Roge, Bernadette ;

Heron, Delphine ;

Burglen, Lydie ;

Gillberg, Christopher ;

Leboyer, Marion ;

Bourgeron, Thomas .

NATURE GENETICS, 2007, 39 (01) :25-27

[2] Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism [J].

Jamain, S ;

Quach, H ;

Betancur, C ;

Råstam, M ;

Colineaux, C ;

Gillberg, IC ;

Soderstrom, H ;

Giros, B ;

Leboyer, M ;

Gillberg, C ;

Bourgeron, T ;

Gillberg, C ;

Råstam, M ;

Gillberg, C ;

Nydén, A ;

Söderström, H ;

Leboyer, M ;

Betancur, C ;

Philippe, A ;

Giros, B ;

Colineaux, C ;

Cohen, D ;

Chabane, N ;

Mouren-Siméoni, MC ;

Brice, A ;

Sponheim, E ;

Spurkland, I ;

Skjeldal, OH ;

Coleman, M ;

Pearl, PL ;

Cohen, IL ;

Tsiouris, J ;

Zappella, M ;

Menchetti, G ;

Pompella, A ;

Aschauer, H ;

Van Maldergem, L .

NATURE GENETICS, 2003, 34 (01) :27-29

[3] Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism [J].

Jamain, Stephane ;

Radyushkin, Konstantin ;

Hammerschmidt, Kurt ;

Granon, Sylvie ;

Boretius, Susann ;

Varoqueaux, Frederique ;

Ramanantsoa, Nelina ;

Gallego, Jorge ;

Ronnenberg, Anja ;

Winter, Dorina ;

Frahm, Jens ;

Fischer, Julia ;

Bourgeron, Thomas ;

Ehrenreich, Hannelore ;

Brose, Nils .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (05) :1710-1715

[4] X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family [J].

Laumonnier, F ;

Bonnet-Brilhault, F ;

Gomot, M ;

Blanc, R ;

David, A ;

Moizard, MP ;

Raynaud, M ;

Ronce, N ;

Lemonnier, E ;

Calvas, P ;

Laudier, B ;

Chelly, J ;

Fryns, JP ;

Ropers, HH ;

Hamel, BCJ ;

Andres, C ;

Barthélémy, C ;

Moraine, C ;

Briault, S .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (03) :552-557

[5] Abnormal melatonin synthesis in autism spectrum disorders [J].

Melke, J. ;

Botros, H. Goubran ;

Chaste, P. ;

Betancur, C. ;

Nygren, G. ;

Anckarsater, H. ;

Rastam, M. ;

Stahlberg, O. ;

Gillberg, I. C. ;

Delorme, R. ;

Chabane, N. ;

Mouren-Simeoni, M-C ;

Fauchereau, F. ;

Durand, C. M. ;

Chevalier, F. ;

Drouot, X. ;

Collet, C. ;

Launay, J-M ;

Leboyer, M. ;

Gillberg, C. ;

Bourgeron, T. .

MOLECULAR PSYCHIATRY, 2008, 13 (01) :90-98

[6] Mapping autism risk loci using genetic linkage and chromosomal rearrangements [J].

Szatmari, Peter ;

Paterson, Andrew D. ;

Zwaigenbaum, Lonnie ;

Roberts, Wendy ;

Brian, Jessica ;

Liu, Xiao-Qing ;

Vincent, John B. ;

Skaug, Jennifer L. ;

Thompson, Ann P. ;

Senman, Lili ;

Feuk, Lars ;

Qian, Cheng ;

Bryson, Susan E. ;

Jones, Marshall B. ;

Marshall, Christian R. ;

Scherer, Stephen W. ;

Vieland, Veronica J. ;

Bartlett, Christopher ;

Mangin, La Vonne ;

Goedken, Rhinda ;

Segre, Alberto ;

Pericak-Vance, Margaret A. ;

Cuccaro, Michael L. ;

Gilbert, John R. ;

Wright, Harry H. ;

Abramson, Ruth K. ;

Betancur, Catalina ;

Bourgeron, Thomas ;

Gillberg, Christopher ;

Leboyer, Marion ;

Buxbaum, Joseph D. ;

Davis, Kenneth L. ;

Hollander, Eric ;

Silverman, Jeremy M. ;

Hallmayer, Joachim ;

Lotspeich, Linda ;

Sutcliffe, James S. ;

Haines, Jonathan L. ;

Folstein, Susan E. ;

Piven, Joseph ;

Wassink, Thomas H. ;

Sheffield, Val ;

Geschwind, Daniel H. ;

Bucan, Maja ;

Brown, W. Ted ;

Cantor, Rita M. ;

Constantino, John N. ;

Gilliam, T. Conrad ;

Herbert, Martha ;

LaJonchere, Clara .

NATURE GENETICS, 2007, 39 (03) :319-328

[7] Neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice [J].

Tabuchi, Katsuhiko ;

Blundell, Jacqueline ;

Etherton, Mark R. ;

Hammer, Robert E. ;

Liu, Xinran ;

Powell, Craig M. ;

Suedhof, Thomas C. .

SCIENCE, 2007, 318 (5847) :71-76

[8] A randomized, placebo-controlled trial of controlled release melatonin treatment of delayed sleep phase syndrome and impaired sleep maintenance in children with neurodevelopmental disabilities [J].

Wasdell, Michael B. ;

Jan, James E. ;

Bomben, Melissa M. ;

Freeman, Roger D. ;

Rietveld, Wop J. ;

Tai, Joseph ;

Hamilton, Donald ;

Weiss, Margaret D. .

JOURNAL OF PINEAL RESEARCH, 2008, 44 (01) :57-64

← 1 →