Toward a developmental neurobiology of autism

Wiley - Tập 10 Số 4 - Trang 303-317 - 2004
Franck Polleux1, Jean M. Lauder
1Department of Pharmacology-Neuroscience Center, School of Medicine, University of North Carolina-Chapel Hill, Chapel Hill, North Carolina, USA. [email protected]

Tóm tắt

AbstractAutism is a complex, behaviorally defined, developmental brain disorder with an estimated prevalence of 1 in 1,000. It is now clear that autism is not a disease, but a syndrome with a strong genetic component. The etiology of autism is poorly defined both at the cellular and the molecular levels. Based on the fact that seizure activity is frequently associated with autism and that abnormal evoked potentials have been observed in autistic individuals in response to tasks that require attention, several investigators have recently proposed that autism might be caused by an imbalance between excitation and inhibition in key neural systems including the cortex. Despite considerable ongoing effort toward the identification of chromosome regions affected in autism and the characterization of many potential gene candidates, only a few genes have been reproducibly shown to display specific mutations that segregate with autism, likely because of the complex polygenic nature of this syndrome. Among those, several candidate genes have been shown to control the early patterning and/or the late synaptic maturation of specific neuronal subpopulations controlling the balance between excitation and inhibition in the developing cortex and cerebellum. In the present article, we review our current understanding of the developmental mechanisms patterning the balance between excitation and inhibition in the context of the neurobiology of autism. © 2004 Wiley‐Liss, Inc. MRDD Research Reviews 2004;10:303–317.

Từ khóa


Tài liệu tham khảo

10.1002/cne.20112

Agulhon C, 1999, Localization of mRNA for CHRNA7 in human fetal brain, Neuroreport, 10, 2223

10.1111/j.1749-6632.1990.tb16893.x

10.1126/science.278.5337.474

10.1016/S0361-9230(01)00642-6

10.1162/089976603765202659

10.1006/geno.1999.5968

10.1086/342720

10.1212/WNL.59.2.175

10.1523/JNEUROSCI.18-05-01763.1998

10.1038/sj.mp.4001340

10.1093/brain/121.5.889

10.1002/1098-2779(2000)6:4<300::AID-MRDD9>3.0.CO;2-R

10.1002/(SICI)1096-8628(19991215)88:6<609::AID-AJMG7>3.0.CO;2-L

10.1038/sj.mp.4001499

10.1038/sj.mp.4000923

10.1038/nature02518

10.1242/dev.128.8.1253

10.1038/19315

10.1017/S0954579402002018

10.1038/368823a0

10.1038/sj.mp.4001465

10.1007/s007020050076

10.1007/s007020050144

10.1212/WNL.58.3.428

10.1242/dev.126.3.525

10.1126/science.1086446

10.1126/science.1074192

10.1186/1471-2156-2-22

10.1093/hmg/ddh158

10.1038/sj.mp.4001167

10.1002/1531-8249(199903)45:3<287::AID-ANA3>3.0.CO;2-9

10.1002/ana.410420420

10.1016/S0959-4388(00)00182-3

10.1038/378075a0

10.1034/j.1399-0004.2003.00115.x

10.1038/sj.mp.4000266

10.1016/S0959-4388(97)80016-5

10.1001/jama.290.3.337

10.1212/WNL.57.2.245

10.1056/NEJM198805263182102

10.1038/sj.mp.4001409

10.1038/380066a0

10.1016/0301-0082(92)90015-7

10.1016/0306-4522(90)90097-N

10.1186/1741-7007-2-14

10.1016/S0140-6736(05)63326-0

10.1016/S0006-3223(02)01430-0

10.1101/gad.14.1.67

10.1038/35103559

10.1016/S0166-2236(03)00227-3

10.1002/(SICI)1098-1063(1996)6:4<347::AID-HIPO1>3.0.CO;2-I

10.1038/sj.mp.4001498

10.1242/dev.125.12.2315

10.1016/S0896-6273(00)81112-5

10.1212/WNL.55.7.1033

10.1126/science.1071829

10.1046/j.1601-1848.2003.00048.x

10.1007/BF02178163

10.1023/A:1005551418922

Holopainen IE, 2001, Angelman syndrome: From the phenotype of a developmental disorder to the genes, Duodecim, 117, 383

10.1002/1531-8249(200101)49:1<110::AID-ANA17>3.0.CO;2-T

10.1023/A:1010715619091

10.1016/S0959-4388(99)80004-X

10.1093/hmg/7.3.571

10.1086/323264

10.1016/0092-8674(95)90396-8

10.1038/sj.mp.4000979

10.1038/ng1136

10.1242/dev.00899

10.1038/35049541

10.1073/pnas.97.10.5019

10.1002/ajmg.b.20172

10.1126/science.1672471

10.1093/brain/awh199

Kanner L, 1943, Autistic disturbances of affective contact, Nervous Child., 2, 217

10.1016/S0959-4388(00)00092-1

10.1038/ng1009

10.1093/hmg/6.13.2233

10.1006/nbdi.2002.0479

10.1523/JNEUROSCI.17-20-07881.1997

10.1097/00004583-199702000-00019

10.1001/archpsyc.1977.01770170063005

10.1016/S1044-7431(03)00031-9

10.1016/0166-2236(93)90162-F

10.1111/j.1749-6632.1990.tb16891.x

10.1002/ajmg.b.20050

10.1086/382137

10.1523/JNEUROSCI.19-18-07881.1999

10.1093/brain/awf160

10.1038/nature00779

10.1016/j.tins.2004.05.008

10.1542/peds.104.3.405

10.1146/annurev.neuro.25.112701.142754

10.1016/S0092-8674(00)80354-2

10.1086/321980

10.1038/sj.ejhg.5201198

10.1016/0028-3908(94)00158-O

10.1159/000072266

10.1126/science.1089610

10.1002/(SICI)1096-8628(19991015)88:5<492::AID-AJMG11>3.0.CO;2-X

10.1176/jnp.11.4.470

10.1093/hmg/8.10.1867

10.1038/35097509

10.1111/j.1469-8749.1994.tb11911.x

10.1016/j.molbrainres.2004.01.003

10.1016/S0896-6273(00)80239-1

10.1016/S0896-6273(00)80316-5

10.1016/0896-6273(95)90171-X

10.1002/ajmg.10182

10.1097/00004583-200211000-00021

10.1242/dev.120.3.695

10.1016/0165-3806(85)90040-9

10.1016/0165-3806(86)90063-5

10.1016/S0387-7604(03)00168-2

10.1016/S0896-6273(00)81242-8

10.1093/brain/120.4.701

10.1542/peds.113.5.e472

10.1002/ajmg.b.20147

10.1002/ana.1024

10.1038/nn971

10.1007/s007020170008

10.1038/sj.mp.4001361

10.1006/mcne.1999.0826

10.1038/20700

10.1038/nn1247

10.1176/appi.ajp.158.7.1058

10.1097/01.ypg.0000128768.37838.17

10.1002/(SICI)1096-8628(20000207)96:1<123::AID-AJMG24>3.0.CO;2-N

10.1038/sj.mp.4001069

10.1046/j.1399-0004.2003.00176.x

Peters AR, 1994, Cerebral Cortex, 1

10.1002/(SICI)1096-9861(19960205)365:2<232::AID-CNE3>3.0.CO;2-6

10.1093/hmg/8.5.805

10.1016/S0959-4388(97)80093-1

10.1002/mrdd.20037

10.1176/ajp.152.8.1145

10.1016/0006-3223(92)90260-7

10.1212/WNL.49.2.546

10.1242/dev.129.13.3147

10.1152/ajpheart.00588.2002

10.1016/S0896-6273(01)00264-1

10.1016/S0896-6273(01)00264-1

10.1212/WNL.57.9.1618

10.1002/cne.901450105

10.1186/1471-2350-5-10

10.1176/appi.ajp.161.4.662

10.1007/s004010050401

10.1086/302497

10.1086/302497

10.1002/ajmg.1187

10.1002/(SICI)1096-9861(19960624)370:2<247::AID-CNE8>3.0.CO;2-2

Roffler‐Tarlov S, 2001, Handbook of Brain and Human Development, 165

10.1034/j.1601-183X.2003.00037.x

10.1021/bi010730z

10.1523/JNEUROSCI.1297-04.2004

10.1038/sj.emboj.7600278

10.1016/S0959-4388(02)00286-6

10.1016/S0278-5846(99)00020-2

10.1136/jmg.40.4.e42

10.1016/S0896-6273(02)00768-7

10.1086/367846

10.1097/00008480-200312000-00004

10.1016/S0960-9822(06)00319-8

10.1016/0006-8993(73)90617-3

10.1111/j.1749-6632.2003.tb07461.x

10.1016/j.ejphar.2003.08.094

10.1002/1096-8628(20001204)96:6<765::AID-AJMG13>3.0.CO;2-L

10.1073/pnas.96.3.1100

10.1212/WNL.59.2.184

10.1016/j.tins.2004.05.003

10.1007/BF01540677

10.1016/S0140-6736(05)62956-X

10.1126/science.294.5540.34

10.1006/geno.2002.6810

10.1016/S1364-6613(99)01299-1

10.1523/JNEUROSCI.17-21-08313.1997

10.1046/j.1471-4159.1998.70062468.x

10.1038/374643a0

10.1007/s004390050908

10.1038/sj.mp.4000873

Trottier G, 1999, Etiology of infantile autism: A review of recent advances in genetic and neurobiological research, J Psychiatry Neurosci, 24, 103

10.1016/S0733-8619(03)00011-2

10.1016/S0014-2999(00)00814-1

10.1097/00004583-200301000-00018

10.1038/sj.mp.4001505

10.1002/ajmg.10192

10.1007/s00787-004-0354-6

Vervoort VS, 2002, AGTR2 mutations in X‐linked mental retardation, Science, 296, 2401, 10.1126/science.1072191

Vogel‐Hopker A, 2002, The specification of noradrenergic locus coeruleus (LC) neurones depends on bone morphogenetic proteins (BMPs), Development, 129, 983, 10.1242/dev.129.4.983

10.1207/S15374424JCCP3001_9

10.1016/j.ijdevneu.2003.09.002

10.1002/mrdd.20041

10.1002/ajmg.1401

10.1016/S0361-9230(01)00615-3

10.1242/dev.128.19.3759

10.1146/annurev.cellbio.14.1.59

Wurst W, 1994, Multiple developmental defects in Engrailed‐1 mutant mice: An early mid‐hindbrain deletion and patterning defects in forelimbs and sternum, Development, 120, 2065, 10.1242/dev.120.7.2065

10.1038/nn761

10.1016/S0092-8674(00)81437-3

10.1002/ajmg.1365

10.1038/nn1132

10.1523/JNEUROSCI.4071-03.2004

10.1126/science.1089071