title: [Genetic and brain structure anomalies in autism spectrum disorders. Towards an understanding of the aetiopathogenesis?].
abstract: Autism spectrum disorders (ASD) are pervasive development disorders with high heritability and an as yet unclear aetiology. So far molecular genetic research was able to identify several candidate genes for the disorder which are functionally linked to neurotransmission and neuronal migration, cortical organisation and synaptic plasticity. MRI studies repeatedly showed a higher total brain volume for ASD patients. The volume increase was most pronounced for the frontal and the temporal lobes and peaked in early childhood. A combination of molecular genetic and structural imaging research appears promising for a further characterization of ASD aetiology.
authors.affiliation: Klinik für Psychiatrie und Psychotherapie, Universitätsklinikum Aachen, Pauwelsstraße 30, 2074, Aachen. tnickl-jockschat@ukaachen.de
authors.forename: T
authors.initials: T
authors.lastname: Nickl-Jockschat
authors.forename: T M
authors.initials: TM
authors.lastname: Michel
mesh_terms: D001921:Brain / Q000473:pathology*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D005625:Frontal Lobe / Q000473:pathology; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D009473:Neuronal Plasticity / Q000235:genetics; D009474:Neurons / Q000473:pathology; D009929:Organ Size / Q000235:genetics; D009435:Synaptic Transmission / Q000235:genetics / Q000502:physiology; D013702:Temporal Lobe / Q000473:pathology
references.citation: J Child Neurol. 2005 Jan;20(1):34-41
references.pmid: 15791921
references.citation: Am J Hum Genet. 2008 Jan;82(1):165-73
references.pmid: 18179895
references.citation: J Neurochem. 2002 Jun;81(5):903-10
references.pmid: 12065602
references.citation: Mol Psychiatry. 2005 Jun;10(6):563-71
references.pmid: 15558079
references.citation: Mol Psychiatry. 2002;7(3):311-6
references.pmid: 11920158
references.citation: Am J Psychiatry. 2004 Mar;161(3):539-46
references.pmid: 14992981
references.citation: Am J Med Genet. 2001 Aug 8;105(6):521-4
references.pmid: 11496368
references.citation: Neurosci Lett. 2006 Nov 27;409(1):10-3
references.pmid: 17034946
references.citation: Mol Psychiatry. 2006 Feb;11(2):214-20
references.pmid: 16189504
references.citation: Hum Mol Genet. 2005 Feb 15;14(4):483-92
references.pmid: 15615769
references.citation: Mol Psychiatry. 2002;7(9):1012-7
references.pmid: 12399956
references.citation: Cell. 1993 Nov 5;75(3):495-505
references.pmid: 8221889
references.citation: Clin Genet. 2004 Dec;66(6):530-6
references.pmid: 15521981
references.citation: Biol Psychiatry. 2005 Jul 1;58(1):1-9
references.pmid: 15935993
references.citation: Am J Hum Genet. 2007 Dec;81(6):1289-97
references.pmid: 17999366
references.citation: Biol Psychiatry. 2005 Jan 15;57(2):126-33
references.pmid: 15652870
references.citation: Nervenarzt. 2008 Mar;79(3):261-74
references.pmid: 18322720
references.citation: Brain Pathol. 2007 Oct;17(4):434-47
references.pmid: 17919129
references.citation: J Med Genet. 2001 Dec;38(12):834-45
references.pmid: 11748306
references.citation: Arch Gen Psychiatry. 2007 Jul;64(7):853-64
references.pmid: 17606819
references.citation: Nature. 2008 Oct 16;455(7215):919-23
references.pmid: 18923514
references.citation: J Clin Psychiatry. 2005;66 Suppl 10:3-8
references.pmid: 16401144
references.citation: Psychol Med. 2005 Apr;35(4):561-70
references.pmid: 15856726
references.citation: Mol Psychiatry. 2005 Apr;10(4):329-32
references.pmid: 15622415
references.citation: Am J Hum Genet. 2008 Jan;82(1):160-4
references.pmid: 18179894
references.citation: Neuroimage. 2002 Aug;16(4):1038-51
references.pmid: 12202091
references.citation: Am J Hum Genet. 2002 Jan;70(1):60-71
references.pmid: 11741194
references.citation: Mol Psychiatry. 2001 Mar;6(2):150-9
references.pmid: 11317216
references.citation: Am J Hum Genet. 1998 Jun;62(6):1353-60
references.pmid: 9585605
references.citation: Nature. 2008 Oct 16;455(7215):912-8
references.pmid: 18923513
references.citation: Cell. 2006 May 5;125(3):411-4
references.pmid: 16678083
references.citation: Brain. 2000 Apr;123 ( Pt 4):836-44
references.pmid: 10734014
references.citation: Arch Gen Psychiatry. 2005 Dec;62(12):1366-76
references.pmid: 16330725
references.citation: Brain Res Bull. 2003 Oct 15;61(6):557-69
references.pmid: 14519452
references.citation: J Neurosci. 2004 May 19;24(20):4889-93
references.pmid: 15152050
references.citation: Neuroreport. 1999 Jun 3;10(8):1647-51
references.pmid: 10501551
references.citation: Ann Neurol. 2007 Sep;62(3):243-50
references.pmid: 17696172
references.citation: J Child Psychol Psychiatry. 2005 Sep;46(9):963-71
references.pmid: 16108999
references.citation: Cell Physiol Biochem. 2007;20(6):687-702
references.pmid: 17982252
references.citation: Biol Psychiatry. 2005 Apr 1;57(7):777-87
references.pmid: 15820235
references.citation: Brain. 2001 Jul;124(Pt 7):1317-24
references.pmid: 11408327
references.citation: Biol Psychiatry. 2004 Feb 1;55(3):323-6
references.pmid: 14744477
references.citation: AJR Am J Roentgenol. 1993 Feb;160(2):387-93
references.pmid: 8424359
references.citation: Am J Hum Genet. 1991 Nov;49(5):932-8
references.pmid: 1928098
references.citation: Cell. 2004 Dec 29;119(7):1013-26
references.pmid: 15620359
references.citation: Proc Natl Acad Sci U S A. 2006 Nov 7;103(45):16834-9
references.pmid: 17053076
references.citation: J Child Psychol Psychiatry. 1989 May;30(3):405-16
references.pmid: 2745591
references.citation: Hum Genet. 2008 Aug;124(1):1-17
references.pmid: 18512078
references.citation: Eur Child Adolesc Psychiatry. 1995 Jul;4(3):175-86
references.pmid: 8846206
references.citation: Mol Psychiatry. 2003 Oct;8(10):885-92
references.pmid: 14515139
references.citation: Science. 2004 Jul 23;305(5683):525-8
references.pmid: 15273396
references.citation: Am J Hum Genet. 2008 Feb;82(2):477-88
references.pmid: 18252227
references.citation: J Child Psychol Psychiatry. 2004 Nov;45(8):1431-6
references.pmid: 15482503
references.citation: Nat Genet. 1999 Oct;23(2):185-8
references.pmid: 10508514
references.citation: J Child Psychol Psychiatry. 1994 Feb;35(2):311-22
references.pmid: 8188801
references.citation: Am J Med Genet B Neuropsychiatr Genet. 2005 Jan 5;132B(1):74-5
references.pmid: 15389766
references.citation: Pharmacopsychiatry. 2003 Nov;36 Suppl 3:S195-202
references.pmid: 14677079
references.citation: BMC Med Genet. 2009 Jun 30;10:61
references.pmid: 19566951
references.citation: Nat Genet. 2001 Dec;29(4):404-11
references.pmid: 11726927
references.citation: Am J Med Genet. 2000 Feb 7;96(1):43-8
references.pmid: 10686550
references.citation: Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):82-4
references.pmid: 15274046
references.citation: Proc Natl Acad Sci U S A. 2007 Nov 6;104(45):17849-54
references.pmid: 17978184
references.citation: Am J Hum Genet. 1998 May;62(5):1077-83
references.pmid: 9545402
references.citation: Eur J Neurosci. 2006 Feb;23(4):901-9
references.pmid: 16519655
references.citation: Neurology. 1995 Feb;45(2):398-402
references.pmid: 7854553
references.citation: Eur Psychiatry. 2008 Jun;23(4):289-99
references.pmid: 17765485
references.citation: J Am Acad Child Adolesc Psychiatry. 1996 Apr;35(4):530-6
references.pmid: 8919716
references.citation: Am J Psychiatry. 1992 Feb;149(2):245-7
references.pmid: 1734747
references.citation: Neuron. 2007 Oct 25;56(2):399-413
references.pmid: 17964254
references.citation: Biol Psychiatry. 2008 Jun 15;63(12):1111-7
references.pmid: 18374305
references.citation: Cereb Cortex. 2003 Jul;13(7):728-35
references.pmid: 12816888
references.citation: Trends Genet. 2007 Aug;23(8):387-95
references.pmid: 17630015
references.citation: Neuron. 2006 Sep 21;51(6):741-54
references.pmid: 16982420
references.citation: Mol Psychiatry. 2002;7(7):801-4
references.pmid: 12192627
references.citation: Br J Psychiatry. 1987 Dec;151:831-3
references.pmid: 3502809
references.citation: Genes Brain Behav. 2009 Jun;8(4):416-25
references.pmid: 19243448
references.citation: Trends Cell Biol. 1998 Oct;8(10):404-10
references.pmid: 9789329
references.citation: Neuroimage. 2007 Aug 1;37(1):40-7
references.pmid: 17566764
references.citation: Mol Psychiatry. 2006 Jan;11(1):1, 18-28
references.pmid: 16205736
references.citation: J Neurogenet. 2001;15(3-4):245-59
references.pmid: 12092907
references.citation: Genomics. 2001 Sep;77(1-2):105-13
references.pmid: 11543639
references.citation: Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):484-91
references.pmid: 17427195
references.citation: Dev Neurosci. 2003 Mar-Aug;25(2-4):197-206
references.pmid: 12966217
references.citation: Am J Dis Child. 1987 Dec;141(12):1330-2
references.pmid: 3500635
references.citation: Genomics. 2006 Jan;87(1):75-83
references.pmid: 16311013
references.citation: Nat Rev Genet. 2008 May;9(5):341-55
references.pmid: 18414403
references.citation: N Engl J Med. 2008 Feb 14;358(7):667-75
references.pmid: 18184952
references.citation: J Am Acad Child Adolesc Psychiatry. 1990 Jan;29(1):127-9
references.pmid: 2295565
references.citation: Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):220-1
references.pmid: 16508939
references.citation: Am J Med Genet C Semin Med Genet. 2006 Feb 15;142C(1):24-32
references.pmid: 16419097
references.citation: Neurosci Lett. 2002 Aug 16;328(3):237-40
references.pmid: 12147315
references.citation: Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126B(1):46-50
references.pmid: 15048647
references.citation: Child Adolesc Psychiatr Clin N Am. 2003 Jan;12(1):15-21, v-vi
references.pmid: 12512396
references.citation: Neurology. 1999 Dec 10;53(9):2145-50
references.pmid: 10599796
references.citation: Neuron. 2001 Apr;30(1):79-89
references.pmid: 11343646
references.citation: Pediatrics. 2004 Aug;114(2):451-7
references.pmid: 15286229
references.citation: Biol Psychiatry. 2006 Jan 1;59(1):1-6
references.pmid: 16139816
references.citation: Clin Genet. 1985 Feb;27(2):113-7
references.pmid: 3978844
references.citation: J Autism Dev Disord. 2006 Aug;36(6):733-9
references.pmid: 16625438
references.citation: Neuropharmacology. 2004 Oct;47(5):724-33
references.pmid: 15458844
references.citation: Z Kinder Jugendpsychiatr Psychother. 2001 Feb;29(1):59-69
references.pmid: 11234553
references.citation: Can J Psychiatry. 2003 Sep;48(8):517-25
references.pmid: 14574827
references.citation: Nat Genet. 2003 May;34(1):27-9
references.pmid: 12669065
references.citation: J Sleep Res. 2004 Sep;13(3):265-8
references.pmid: 15339262
references.citation: Nervenarzt. 2009 Jan;80(1):40-2, 44-6, 48 passim
references.pmid: 18820892
references.citation: Neurology. 2002 Jul 23;59(2):184-92
references.pmid: 12136055
references.citation: Am J Hum Genet. 2008 Jan;82(1):150-9
references.pmid: 18179893
references.citation: Cell. 1993 Dec 31;75(7):1305-15
references.pmid: 8269512
references.citation: Neuropediatrics. 2002 Oct;33(5):239-41
references.pmid: 12536365
references.citation: J Child Neurol. 2001 Jun;16(6):421-4
references.pmid: 11417608
references.citation: Arch Gen Psychiatry. 2001 Aug;58(8):769-74
references.pmid: 11483143
references.citation: Nat Genet. 2007 Mar;39(3):319-28
references.pmid: 17322880
references.citation: Eur J Hum Genet. 2008 Nov;16(11):1301-10
references.pmid: 18523453
references.citation: Hum Mol Genet. 1999 Jan;8(1):129-35
references.pmid: 9887341
references.citation: Hum Mol Genet. 2008 Feb 15;17(4):628-38
references.pmid: 18156158
references.citation: Nat Genet. 2007 Jan;39(1):25-7
references.pmid: 17173049
references.citation: Neuro Endocrinol Lett. 2008 Jun;29(3):281-6
references.pmid: 18580841
references.citation: Magn Reson Imaging. 1990;8(6):811-6
references.pmid: 2266809
references.citation: Cell Mol Life Sci. 2007 Apr;64(7-8):947-60
references.pmid: 17347796
references.citation: Nat Clin Pract Neurol. 2008 Mar;4(3):138-47
references.pmid: 18253102
references.citation: Am J Psychiatry. 2000 Dec;157(12):1994-2001
references.pmid: 11097966
references.citation: Neuroreport. 2000 Sep 11;11(13):2931-5
references.pmid: 11006968
references.citation: J Med Genet. 2005 Apr;42(4):318-21
references.pmid: 15805158
references.citation: Science. 2007 Apr 20;316(5823):445-9
references.pmid: 17363630
references.citation: J Am Acad Child Adolesc Psychiatry. 2007 Apr;46(4):515-523
references.pmid: 17420687
references.citation: J Am Acad Child Adolesc Psychiatry. 2006 Jun;45(6):691-699
references.pmid: 16721319
references.citation: Psychol Med. 1995 Jan;25(1):63-77
references.pmid: 7792363
references.citation: Proc Natl Acad Sci U S A. 2007 Jul 31;104(31):12831-6
references.pmid: 17652511
references.citation: Biol Psychiatry. 1992 Dec 15;32(12):1091-101
references.pmid: 1477189