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Erschienen in: Der Nervenarzt 5/2011

01.05.2011 | Übersichten

Genetische und hirnstrukturelle Anomalien bei Autismus-Spektrum-Störungen

Eine Brücke zum Verständnis der Ätiopathogenese?

verfasst von: Dr. T. Nickl-Jockschat, T.M. Michel

Erschienen in: Der Nervenarzt | Ausgabe 5/2011

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Zusammenfassung

Autismus-Spektrum-Störungen (ASD) sind tiefgreifende Entwicklungsstörungen mit hoher Heritabilität und bislang noch unbekannter Ätiopathogenese. Der molekulargenetischen Forschung ist es gelungen, mehrere Kandidatengene für die Erkrankung zu identifizieren, die funktionell in Verbindung zu Neurotransmission bzw. neuronaler Migration, kortikaler Organisation und synaptischer Plastizität stehen. Magnetresonanztomographische Studien konnten ein erhöhtes Hirnvolumen bei ASD-Patienten nachweisen. Vor allem die Frontal- und die Temporallappen waren im Volumen vergrößert. Am ausgeprägtesten war diese Volumenzunahme im frühen Kindesalter. Eine Kombination molekulargenetischer und strukturell-bildgebender Forschungsansätze erscheint als vielversprechend für die weitere Aufklärung der Ätiopathogenese der ASD.
Literatur
1.
Zurück zum Zitat Abell F, Krams M, Ashburner J et al (1999) The neuroanatomy of autism: a voxel-based whole brain analysis of structural scans. Neuroreport 10(8):1647–1651PubMedCrossRef Abell F, Krams M, Ashburner J et al (1999) The neuroanatomy of autism: a voxel-based whole brain analysis of structural scans. Neuroreport 10(8):1647–1651PubMedCrossRef
2.
Zurück zum Zitat Abrahams BS, Tentler D, Perederiy JV et al (2007) Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc Natl Acad Sci U S A 104(45):17849–17854PubMedCrossRef Abrahams BS, Tentler D, Perederiy JV et al (2007) Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc Natl Acad Sci U S A 104(45):17849–17854PubMedCrossRef
3.
Zurück zum Zitat Abrahams BS, Geschwind DH (2008) Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 9(5):341–355PubMedCrossRef Abrahams BS, Geschwind DH (2008) Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 9(5):341–355PubMedCrossRef
4.
Zurück zum Zitat Alarcon M, Cantor LM, Liu J et al (2002) Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 70(1):60–71PubMedCrossRef Alarcon M, Cantor LM, Liu J et al (2002) Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 70(1):60–71PubMedCrossRef
5.
Zurück zum Zitat Alarcon M, Abrahams BS, Stone JL et al (2008) Linkage, association and gene-expression analyses identify CNTNAP2 as an autism susceptibility gene. Am J Hum Genet 82(1):150–159PubMedCrossRef Alarcon M, Abrahams BS, Stone JL et al (2008) Linkage, association and gene-expression analyses identify CNTNAP2 as an autism susceptibility gene. Am J Hum Genet 82(1):150–159PubMedCrossRef
6.
Zurück zum Zitat Amir RE, Veyver IB van den, Wan M et al (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23(2):185–188PubMedCrossRef Amir RE, Veyver IB van den, Wan M et al (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23(2):185–188PubMedCrossRef
7.
Zurück zum Zitat Arking DE, Cutler DJ, Brune CW et al (2008) A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82(1):160–164PubMedCrossRef Arking DE, Cutler DJ, Brune CW et al (2008) A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82(1):160–164PubMedCrossRef
8.
Zurück zum Zitat Autism Genome Project Consortium (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39(3):319–328CrossRef Autism Genome Project Consortium (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39(3):319–328CrossRef
9.
Zurück zum Zitat Aylward EH, Minshew NJ, Goldstein G et al (1999) MRI volumes of amygdala and hippocampus in non-mentally retarded autistic adolescents and adults. Neurology 53(9):2145–2150PubMed Aylward EH, Minshew NJ, Goldstein G et al (1999) MRI volumes of amygdala and hippocampus in non-mentally retarded autistic adolescents and adults. Neurology 53(9):2145–2150PubMed
10.
Zurück zum Zitat Bailey A, LeCouteur A, Gottesman I et al (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25(1):63–77PubMedCrossRef Bailey A, LeCouteur A, Gottesman I et al (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25(1):63–77PubMedCrossRef
11.
Zurück zum Zitat Bakkaloglu B, O‘Roak BJ, Louvi A et al (2008) Molecular cytogenetic analysis and resequencing of contactin-associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 82(1):165–173PubMedCrossRef Bakkaloglu B, O‘Roak BJ, Louvi A et al (2008) Molecular cytogenetic analysis and resequencing of contactin-associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 82(1):165–173PubMedCrossRef
12.
Zurück zum Zitat Barnea-Goraly N, Kwon H, Menon V et al (2004) White matter structure in autism: preliminary evidence from diffusion tensor imaging. Biol Psychiatry 55(3):323–326PubMedCrossRef Barnea-Goraly N, Kwon H, Menon V et al (2004) White matter structure in autism: preliminary evidence from diffusion tensor imaging. Biol Psychiatry 55(3):323–326PubMedCrossRef
13.
Zurück zum Zitat Bartholomeusz HH, Courchesne E, Karns CM (2002) Relationship between head circumference and brain volume in healthy normal toddlers, children and adults. Neuropediatrics 33(5):239–241PubMedCrossRef Bartholomeusz HH, Courchesne E, Karns CM (2002) Relationship between head circumference and brain volume in healthy normal toddlers, children and adults. Neuropediatrics 33(5):239–241PubMedCrossRef
14.
Zurück zum Zitat Ben Bashat D, Kronfeld-Duenias V, Zachor DA et al (2007) Accelerated maturation of white matter in young children with autism: a high b value DWI study. Neuroimage 37(1):40–47CrossRef Ben Bashat D, Kronfeld-Duenias V, Zachor DA et al (2007) Accelerated maturation of white matter in young children with autism: a high b value DWI study. Neuroimage 37(1):40–47CrossRef
15.
Zurück zum Zitat Birchmeier C, Gherardi E (1998) Developmental roles of HGF/SF and its receptor, the c-Met tyrosine kinase. Trends Cell Biol 8(10):404–410PubMedCrossRef Birchmeier C, Gherardi E (1998) Developmental roles of HGF/SF and its receptor, the c-Met tyrosine kinase. Trends Cell Biol 8(10):404–410PubMedCrossRef
16.
Zurück zum Zitat Bishop DV, Maybery M, Maley A et al (2004) Using self-report to identify the broad phenotype in parents of children with autistic spectrum disorders: a study using the Autism-Spectrum Quotient. J Child Psychol Psychiatry 45(8):1431–1436PubMedCrossRef Bishop DV, Maybery M, Maley A et al (2004) Using self-report to identify the broad phenotype in parents of children with autistic spectrum disorders: a study using the Autism-Spectrum Quotient. J Child Psychol Psychiatry 45(8):1431–1436PubMedCrossRef
17.
Zurück zum Zitat Blasi F, Bacchelli E, Pesaresi G et al (2006) Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection. Am J Med Genet B Neuropsychiatr Genet 141B(3):220–221PubMedCrossRef Blasi F, Bacchelli E, Pesaresi G et al (2006) Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection. Am J Med Genet B Neuropsychiatr Genet 141B(3):220–221PubMedCrossRef
18.
Zurück zum Zitat Blomquist HK, Bohman M, Edvinsson SO et al (1985) Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study. Clin Genet 27(2):113–117PubMedCrossRef Blomquist HK, Bohman M, Edvinsson SO et al (1985) Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study. Clin Genet 27(2):113–117PubMedCrossRef
19.
Zurück zum Zitat Bloss CS, Courchesne E (2007) MRI neuroanatomy in young girls: a preliminary study. J Am Acad Child Adolesc Psychiatry 46(4):515–523PubMedCrossRef Bloss CS, Courchesne E (2007) MRI neuroanatomy in young girls: a preliminary study. J Am Acad Child Adolesc Psychiatry 46(4):515–523PubMedCrossRef
20.
Zurück zum Zitat Boeckers TM, Brockmann J, Kreutz MR et al (2002) ProSAP/SHANK proteins – a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease. J Neurochem 81(5):903–910PubMedCrossRef Boeckers TM, Brockmann J, Kreutz MR et al (2002) ProSAP/SHANK proteins – a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease. J Neurochem 81(5):903–910PubMedCrossRef
21.
Zurück zum Zitat Boger-Meggido I, Shaw DW, Friedman SD et al (2006) Corpus callosum morphometrics in young children with autism spectrum disorder. J Autism Dev Disord 36(6):733–739CrossRef Boger-Meggido I, Shaw DW, Friedman SD et al (2006) Corpus callosum morphometrics in young children with autism spectrum disorder. J Autism Dev Disord 36(6):733–739CrossRef
22.
Zurück zum Zitat Bolton P, Macdonald H, Pickles A et al (1994) A case-control family history study of autism. J Child Psychol Psychiatry 35(2):311–322PubMedCrossRef Bolton P, Macdonald H, Pickles A et al (1994) A case-control family history study of autism. J Child Psychol Psychiatry 35(2):311–322PubMedCrossRef
23.
Zurück zum Zitat Bonora E, Beyer KS, Lamb JA et al (2003) Analysis of reelin as a candidate gene for autism. Mol Psychiatry 8(10):885–892PubMedCrossRef Bonora E, Beyer KS, Lamb JA et al (2003) Analysis of reelin as a candidate gene for autism. Mol Psychiatry 8(10):885–892PubMedCrossRef
24.
Zurück zum Zitat Brambilla P, Hardan A, di Nemi SU et al (2003) Brain anatomy and development in autism: review of structural MRI studies. Brain Res Bull 61(6):557–569PubMedCrossRef Brambilla P, Hardan A, di Nemi SU et al (2003) Brain anatomy and development in autism: review of structural MRI studies. Brain Res Bull 61(6):557–569PubMedCrossRef
25.
Zurück zum Zitat Butler MG, Dasouki MJ, Zhou XP et al (2005) Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 42:318–321PubMedCrossRef Butler MG, Dasouki MJ, Zhou XP et al (2005) Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 42:318–321PubMedCrossRef
26.
Zurück zum Zitat Buxbaum JD, Silverman JM, Smith CJ et al (2002) Association between a GABARB3 polymorphism and autism. Mol Psychiatry 7(3):311–316PubMedCrossRef Buxbaum JD, Silverman JM, Smith CJ et al (2002) Association between a GABARB3 polymorphism and autism. Mol Psychiatry 7(3):311–316PubMedCrossRef
27.
Zurück zum Zitat Buxbaum JD, Cai G, Chaste P et al (2007) Mutation screening of the PTEN gene in patients with autism spectrum disorders andmacrocephaly. Am J Med Genet B Neuropsychiatr Genet 144:484–491 Buxbaum JD, Cai G, Chaste P et al (2007) Mutation screening of the PTEN gene in patients with autism spectrum disorders andmacrocephaly. Am J Med Genet B Neuropsychiatr Genet 144:484–491
28.
Zurück zum Zitat Campbell DB, Sutcliffe JS, Ebert PJ et al (2006) A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci U S A 103(45):16834–16839PubMedCrossRef Campbell DB, Sutcliffe JS, Ebert PJ et al (2006) A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci U S A 103(45):16834–16839PubMedCrossRef
29.
Zurück zum Zitat Campbell DB, D’Oronzio R, Garbett K et al (2007) Disruption of cerebral cortex MET signaling in autism spectrum disorder. Ann Neurol 62(3):243–250PubMedCrossRef Campbell DB, D’Oronzio R, Garbett K et al (2007) Disruption of cerebral cortex MET signaling in autism spectrum disorder. Ann Neurol 62(3):243–250PubMedCrossRef
30.
Zurück zum Zitat Carper RA, Courchesne E (2000) Inverse correlation between frontal lobe and cerebellum sizes in children with autism. Brain 123:836–844PubMedCrossRef Carper RA, Courchesne E (2000) Inverse correlation between frontal lobe and cerebellum sizes in children with autism. Brain 123:836–844PubMedCrossRef
31.
Zurück zum Zitat Carper RA, Moses P, Tigue ZD et al (2002) Cerebral lobes in autism: early hyperplasia and abnormal age effects. Neuroimage 16(4):1038–1051PubMedCrossRef Carper RA, Moses P, Tigue ZD et al (2002) Cerebral lobes in autism: early hyperplasia and abnormal age effects. Neuroimage 16(4):1038–1051PubMedCrossRef
32.
Zurück zum Zitat Carper RA, Courchesne E (2005) Localized enlargement of the frontal cortex in autism. Biol Psychiatry 57(2):126–133PubMedCrossRef Carper RA, Courchesne E (2005) Localized enlargement of the frontal cortex in autism. Biol Psychiatry 57(2):126–133PubMedCrossRef
33.
Zurück zum Zitat Chen GK, Kono N, Geschwind DH et al (2006) Quantitative trait locus analysis of nonverbal communication in autism spectrum disorder. Mol Psychiatry 11(2):214–220PubMedCrossRef Chen GK, Kono N, Geschwind DH et al (2006) Quantitative trait locus analysis of nonverbal communication in autism spectrum disorder. Mol Psychiatry 11(2):214–220PubMedCrossRef
34.
Zurück zum Zitat Christian SL, Brune CW, Sudi J et al (2008) Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry 63(12):1111–1117PubMedCrossRef Christian SL, Brune CW, Sudi J et al (2008) Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry 63(12):1111–1117PubMedCrossRef
35.
Zurück zum Zitat Comoletti D, De Jaco A, Jennings LL et al (2004) The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing. J Neurosci 24(40):4889–4893PubMedCrossRef Comoletti D, De Jaco A, Jennings LL et al (2004) The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing. J Neurosci 24(40):4889–4893PubMedCrossRef
36.
Zurück zum Zitat Cook EH Jr, Courchesne R, Lord C et al (1998) Linkage-disequilibrium mapping of autistic disorder, with 15q11–13 markers. Am J Hum Genet 62(5):1077–1083PubMedCrossRef Cook EH Jr, Courchesne R, Lord C et al (1998) Linkage-disequilibrium mapping of autistic disorder, with 15q11–13 markers. Am J Hum Genet 62(5):1077–1083PubMedCrossRef
37.
Zurück zum Zitat Cook EH Jr, Scherer SW (2008) Copy-number variations associated with neuropsychiatric conditions. Nature 455(7215):919–923PubMedCrossRef Cook EH Jr, Scherer SW (2008) Copy-number variations associated with neuropsychiatric conditions. Nature 455(7215):919–923PubMedCrossRef
38.
Zurück zum Zitat Coon H (2006) Current perspectives on the genetic analysis of autism. Am J Med Genet C Semin Med Genet 142C(1):24–32PubMedCrossRef Coon H (2006) Current perspectives on the genetic analysis of autism. Am J Med Genet C Semin Med Genet 142C(1):24–32PubMedCrossRef
39.
Zurück zum Zitat Courchesne E, Press GA, Yeung-Courchesne R (1993) Parietal lobe abnormalities detected with MR in patients with infantile autism. AJR Am J Roentgenol 160:387–393PubMed Courchesne E, Press GA, Yeung-Courchesne R (1993) Parietal lobe abnormalities detected with MR in patients with infantile autism. AJR Am J Roentgenol 160:387–393PubMed
40.
Zurück zum Zitat Courchesne E, Pierce K, Schumann CM et al (2007) Mapping early brain development in autism. Neuron 56(2):399–413PubMedCrossRef Courchesne E, Pierce K, Schumann CM et al (2007) Mapping early brain development in autism. Neuron 56(2):399–413PubMedCrossRef
41.
Zurück zum Zitat Devlin B, Bennett P, Dawson G et al (2004) Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. Am J Med Genet B Neuropsychiatr Genet 126B(1):46–50PubMedCrossRef Devlin B, Bennett P, Dawson G et al (2004) Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. Am J Med Genet B Neuropsychiatr Genet 126B(1):46–50PubMedCrossRef
42.
Zurück zum Zitat Domes G, Kumbier E, Herpertz-Dahlmann B et al (2008) Autismus und soziale Kognition. Nervenarzt 79(3):261–274PubMedCrossRef Domes G, Kumbier E, Herpertz-Dahlmann B et al (2008) Autismus und soziale Kognition. Nervenarzt 79(3):261–274PubMedCrossRef
43.
Zurück zum Zitat Durand CM, Betancur C, Boeckers TM et al (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39(1):25–27PubMedCrossRef Durand CM, Betancur C, Boeckers TM et al (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39(1):25–27PubMedCrossRef
44.
Zurück zum Zitat European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75(7):1305–1315CrossRef European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75(7):1305–1315CrossRef
45.
Zurück zum Zitat Fang P, Lev-Lehmann E, Tsai TF et al (1999) The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 8(1):129–135PubMedCrossRef Fang P, Lev-Lehmann E, Tsai TF et al (1999) The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 8(1):129–135PubMedCrossRef
46.
Zurück zum Zitat Fatemi SH, Snow AV, Stary JM et al (2005) Reelin signaling is impaired in autism. Biol Psychiatry 57(7):777–787PubMedCrossRef Fatemi SH, Snow AV, Stary JM et al (2005) Reelin signaling is impaired in autism. Biol Psychiatry 57(7):777–787PubMedCrossRef
47.
Zurück zum Zitat Feng J, Schroer R, Yan J et al (2006) High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 409(1):10–13PubMedCrossRef Feng J, Schroer R, Yan J et al (2006) High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 409(1):10–13PubMedCrossRef
48.
Zurück zum Zitat Fombonne E, Tidmarsh L (2003) Epidemologic data on Asperger disorder. Child Adolesc Psychiatr Clin N Am 12:15–21PubMedCrossRef Fombonne E, Tidmarsh L (2003) Epidemologic data on Asperger disorder. Child Adolesc Psychiatr Clin N Am 12:15–21PubMedCrossRef
49.
Zurück zum Zitat Fombonne E (2005) Epidemiology of autistic disorder and other pervasive development disorders. J Clin Psychiatry 66:3–8PubMed Fombonne E (2005) Epidemiology of autistic disorder and other pervasive development disorders. J Clin Psychiatry 66:3–8PubMed
50.
Zurück zum Zitat Forster E, Jossin Y, Zhao S et al (2006) Recent progress in understanding the role of Reelin in radial neuronal migration, with specific emphasis on the dentate gyrus. Eur J Neurosci 23(4):901–909PubMedCrossRef Forster E, Jossin Y, Zhao S et al (2006) Recent progress in understanding the role of Reelin in radial neuronal migration, with specific emphasis on the dentate gyrus. Eur J Neurosci 23(4):901–909PubMedCrossRef
51.
Zurück zum Zitat Gaffney GR, Kuperman S, Tsai LY et al (1987) Midsagittal magnetic resonance imaging of autism. Br J Psychiatry 151:831–835PubMedCrossRef Gaffney GR, Kuperman S, Tsai LY et al (1987) Midsagittal magnetic resonance imaging of autism. Br J Psychiatry 151:831–835PubMedCrossRef
52.
Zurück zum Zitat Gaffney GR, Tsai LY, Kuperman S et al (1987) Cerebellar structure in autism. Am J Dis Child 141(12):1330–1332PubMed Gaffney GR, Tsai LY, Kuperman S et al (1987) Cerebellar structure in autism. Am J Dis Child 141(12):1330–1332PubMed
53.
Zurück zum Zitat Gail Williams P, Sears LL, Allard A (2004) Sleep problems in children with autism. J Sleep Res 13(3):265–268CrossRef Gail Williams P, Sears LL, Allard A (2004) Sleep problems in children with autism. J Sleep Res 13(3):265–268CrossRef
54.
Zurück zum Zitat Garber HJ, Ritvo ER (1992) Magnetic resonance imaging of the posterior fossa in autistic adults. Am J Psychiatry 149(2):245–247PubMed Garber HJ, Ritvo ER (1992) Magnetic resonance imaging of the posterior fossa in autistic adults. Am J Psychiatry 149(2):245–247PubMed
55.
Zurück zum Zitat Gauthier J, Bonnel A, St-Onge J et al (2005) NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population. Am J Med Genet B Neuropsychiatr Genet 132B(1):74–75PubMedCrossRef Gauthier J, Bonnel A, St-Onge J et al (2005) NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population. Am J Med Genet B Neuropsychiatr Genet 132B(1):74–75PubMedCrossRef
56.
Zurück zum Zitat Goffin A, Hoefsloot LH, Bosgoed E et al (2001) PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 105:521–524PubMedCrossRef Goffin A, Hoefsloot LH, Bosgoed E et al (2001) PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 105:521–524PubMedCrossRef
57.
Zurück zum Zitat Graf ER, Zhang X, Jin SX et al (2004) Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins Cell 119(7):1013–1026 Graf ER, Zhang X, Jin SX et al (2004) Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins Cell 119(7):1013–1026
58.
Zurück zum Zitat Hardan AY, Minshew NJ, Mallikarjuhn M et al (2001) Brain volume in autism. J Child Neurol 16(6):421–424PubMed Hardan AY, Minshew NJ, Mallikarjuhn M et al (2001) Brain volume in autism. J Child Neurol 16(6):421–424PubMed
59.
Zurück zum Zitat Hazlett HC, Poe MD, Gerig G et al (2005) Magnetic resonance imaging and head circumference study of brain size and autism: birth through age 2 years. Arch Gen Psychiatry 62(12):1366–1376PubMedCrossRef Hazlett HC, Poe MD, Gerig G et al (2005) Magnetic resonance imaging and head circumference study of brain size and autism: birth through age 2 years. Arch Gen Psychiatry 62(12):1366–1376PubMedCrossRef
60.
Zurück zum Zitat Hazlett HC, Poe M, Gerig G et al (2006) Cortical white and grey brain tissue volume in adolescents and adults with autism. Biol Psychiatry 59(1):1–6PubMedCrossRef Hazlett HC, Poe M, Gerig G et al (2006) Cortical white and grey brain tissue volume in adolescents and adults with autism. Biol Psychiatry 59(1):1–6PubMedCrossRef
61.
Zurück zum Zitat Haznedar MM, Buchsbaum MS, Wei TC et al (2000) Limbic circuitry in patients with autism spectrum disorders studied with positron emission tomography and magnetic resonance imaging. Am J Psychiatry 152(12):1994–2001CrossRef Haznedar MM, Buchsbaum MS, Wei TC et al (2000) Limbic circuitry in patients with autism spectrum disorders studied with positron emission tomography and magnetic resonance imaging. Am J Psychiatry 152(12):1994–2001CrossRef
62.
Zurück zum Zitat Holttum JR, Minshew NJ, Sanders RS et al (1992) Magnetic resonance imaging of the posterior fossa in autism. Biol Psychiatry 32(12):1091–1101PubMedCrossRef Holttum JR, Minshew NJ, Sanders RS et al (1992) Magnetic resonance imaging of the posterior fossa in autism. Biol Psychiatry 32(12):1091–1101PubMedCrossRef
63.
Zurück zum Zitat Howard MA, Cowell PE, Boucher J et al (2000) Convergent neuroanatomical and behavioural evidence of an amygdala hypothesis in autism. Neuroreport 11:2931–2935PubMedCrossRef Howard MA, Cowell PE, Boucher J et al (2000) Convergent neuroanatomical and behavioural evidence of an amygdala hypothesis in autism. Neuroreport 11:2931–2935PubMedCrossRef
64.
Zurück zum Zitat Hrdlicka M (2008) Structural neuroimaging in autism. Neuro Endocrinol Lett 29(3):281–286PubMed Hrdlicka M (2008) Structural neuroimaging in autism. Neuro Endocrinol Lett 29(3):281–286PubMed
65.
Zurück zum Zitat Jamain S, Quach H, Betancur C et al (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34(1):27–29PubMedCrossRef Jamain S, Quach H, Betancur C et al (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34(1):27–29PubMedCrossRef
66.
Zurück zum Zitat Jorde LB, Hasstedt SJ, Ritvo ER et al (1991) Complex segregation analysis of autism. Am J Hum Genet 49(5):932–938PubMed Jorde LB, Hasstedt SJ, Ritvo ER et al (1991) Complex segregation analysis of autism. Am J Hum Genet 49(5):932–938PubMed
67.
Zurück zum Zitat Kanner L (1943) Autistic disturbances of affective contact. Nerv Child 2:217–250 Kanner L (1943) Autistic disturbances of affective contact. Nerv Child 2:217–250
68.
Zurück zum Zitat Kates WR, Burnette CP, Eliez S et al (2004) Neuroanatomic variation in monozygotic twin pairs discordant for the narrow phenotype in autism. Am J Psychiatry 161(3):539–546PubMedCrossRef Kates WR, Burnette CP, Eliez S et al (2004) Neuroanatomic variation in monozygotic twin pairs discordant for the narrow phenotype in autism. Am J Psychiatry 161(3):539–546PubMedCrossRef
69.
Zurück zum Zitat Kircher TT, Liddle PF, Brammer MJ et al (2001) Neural correlates of formal thought disorder in schizophrenia: preliminary findings from a functional magnetic resonance imaging study. Arch Gen Psychiatry 58(8):769–774PubMedCrossRef Kircher TT, Liddle PF, Brammer MJ et al (2001) Neural correlates of formal thought disorder in schizophrenia: preliminary findings from a functional magnetic resonance imaging study. Arch Gen Psychiatry 58(8):769–774PubMedCrossRef
70.
Zurück zum Zitat Krebs MO, Betancur C, Leroy S et al (2002) Absence of association between a polymorphic GGC repeat in the 5‘ untranslated region of the reelin gene and autism. Mol Psychiatry 7(7):801–804PubMedCrossRef Krebs MO, Betancur C, Leroy S et al (2002) Absence of association between a polymorphic GGC repeat in the 5‘ untranslated region of the reelin gene and autism. Mol Psychiatry 7(7):801–804PubMedCrossRef
71.
Zurück zum Zitat Kumar RA, KaraMohamed S, Sudi J et al (2008) Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 17(4):628–638PubMedCrossRef Kumar RA, KaraMohamed S, Sudi J et al (2008) Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 17(4):628–638PubMedCrossRef
72.
Zurück zum Zitat Kwon CH, Zhu X, Zhang J et al (2001) PTEN regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nat Genet 29:404–411PubMedCrossRef Kwon CH, Zhu X, Zhang J et al (2001) PTEN regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nat Genet 29:404–411PubMedCrossRef
73.
Zurück zum Zitat Lalande M, Calciano MA (2007) Molecular epigenetics of Angelman syndrome. Cell Mol Life Sci 64:947–960PubMedCrossRef Lalande M, Calciano MA (2007) Molecular epigenetics of Angelman syndrome. Cell Mol Life Sci 64:947–960PubMedCrossRef
74.
Zurück zum Zitat Landa RJ, Holman KC, Garrett-Mayer E (2007) Social and communication development in toddlers with early and later diagnosis of autism spectrum disorders. Arch Gen Psychiatry 64(7):853–864PubMedCrossRef Landa RJ, Holman KC, Garrett-Mayer E (2007) Social and communication development in toddlers with early and later diagnosis of autism spectrum disorders. Arch Gen Psychiatry 64(7):853–864PubMedCrossRef
75.
Zurück zum Zitat Landa RJ (2008) Diagnosis of autism spectrum disorders in the first 3 years of life. Nat Clin Pract Neurol 4(3):138–147PubMedCrossRef Landa RJ (2008) Diagnosis of autism spectrum disorders in the first 3 years of life. Nat Clin Pract Neurol 4(3):138–147PubMedCrossRef
76.
Zurück zum Zitat Lang UE, Puls I, Muller DJ et al (2007) Molecular mechanisms of schizophrenia. Cell Physiol Biochem 20(6):687–702PubMedCrossRef Lang UE, Puls I, Muller DJ et al (2007) Molecular mechanisms of schizophrenia. Cell Physiol Biochem 20(6):687–702PubMedCrossRef
77.
Zurück zum Zitat Lauritsen MB, Pedersen CB, Mortensen PB (2005) Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J Child Psychol Psychiatry 46(9):963–971PubMedCrossRef Lauritsen MB, Pedersen CB, Mortensen PB (2005) Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J Child Psychol Psychiatry 46(9):963–971PubMedCrossRef
78.
Zurück zum Zitat Levitt JG, Blanton RE, Smalley S et al (2003) Cortical sulcal maps in autism. Cereb Cortex 13(7):728–735PubMedCrossRef Levitt JG, Blanton RE, Smalley S et al (2003) Cortical sulcal maps in autism. Cereb Cortex 13(7):728–735PubMedCrossRef
79.
Zurück zum Zitat Lonard DM, O‘Malley BW (2006) The expanding cosmos of nuclear receptor coactivators. Cell 125(3):411–414PubMedCrossRef Lonard DM, O‘Malley BW (2006) The expanding cosmos of nuclear receptor coactivators. Cell 125(3):411–414PubMedCrossRef
80.
Zurück zum Zitat Lossie AC, Whitney MM, Amidon D et al (2001) Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 38(12):834–845PubMedCrossRef Lossie AC, Whitney MM, Amidon D et al (2001) Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 38(12):834–845PubMedCrossRef
81.
Zurück zum Zitat Malzac P, Webber H, Moncla A et al (1998) Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 62(6):1353–1360PubMedCrossRef Malzac P, Webber H, Moncla A et al (1998) Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 62(6):1353–1360PubMedCrossRef
82.
Zurück zum Zitat Maier W, Zobel A, Rietschel M (2003) Genetics of schizophrenia and affective disorders. Pharmacopsychiatry 36:195–202CrossRef Maier W, Zobel A, Rietschel M (2003) Genetics of schizophrenia and affective disorders. Pharmacopsychiatry 36:195–202CrossRef
83.
Zurück zum Zitat Manning MA, Cassidy SB, Clericuzio C et al (2004) Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 114:451–457PubMedCrossRef Manning MA, Cassidy SB, Clericuzio C et al (2004) Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 114:451–457PubMedCrossRef
84.
Zurück zum Zitat Marshall CR, Noor A, Vincent JB et al (2008) Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82(2):477–488PubMedCrossRef Marshall CR, Noor A, Vincent JB et al (2008) Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82(2):477–488PubMedCrossRef
85.
Zurück zum Zitat Martin ER, Menold MM, Wolpert CM et al (2000) Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet 96(1):43–48PubMedCrossRef Martin ER, Menold MM, Wolpert CM et al (2000) Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet 96(1):43–48PubMedCrossRef
86.
Zurück zum Zitat Menold MM, Shao Y, Wolpert CM et al (2001) Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. J Neurogenet 15:245–259PubMedCrossRef Menold MM, Shao Y, Wolpert CM et al (2001) Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. J Neurogenet 15:245–259PubMedCrossRef
87.
Zurück zum Zitat Meyer G, Varoqueaux F, Neeb A et al (2004) The complexity of PDZ-domain-mediated interactions at glutamatergic synapses: a case study on neuroligin. Neuropharmacology 47(5):724–733PubMedCrossRef Meyer G, Varoqueaux F, Neeb A et al (2004) The complexity of PDZ-domain-mediated interactions at glutamatergic synapses: a case study on neuroligin. Neuropharmacology 47(5):724–733PubMedCrossRef
88.
Zurück zum Zitat Moessner R, Marshall CR, Sutcliffe JS et al (2007) Contributions of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 81(6):1289–1297PubMedCrossRef Moessner R, Marshall CR, Sutcliffe JS et al (2007) Contributions of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 81(6):1289–1297PubMedCrossRef
89.
Zurück zum Zitat Nickl-Jockschat T, Rietschel M, Kircher T (2009) Korrelation zwischen Risikogenvarianten für Schizophrenie und Hirnstrukturanomalien. Nervenarzt 80(1):40–2, 44–48PubMedCrossRef Nickl-Jockschat T, Rietschel M, Kircher T (2009) Korrelation zwischen Risikogenvarianten für Schizophrenie und Hirnstrukturanomalien. Nervenarzt 80(1):40–2, 44–48PubMedCrossRef
90.
Zurück zum Zitat Nowell MA, Hackney DB, Muraki AS et al (1990) Varied MR appearance in autism: fifty-three pediatric patients having the full autistic syndrome. Magn Reson Imaging 8(6):811–816PubMedCrossRef Nowell MA, Hackney DB, Muraki AS et al (1990) Varied MR appearance in autism: fifty-three pediatric patients having the full autistic syndrome. Magn Reson Imaging 8(6):811–816PubMedCrossRef
91.
Zurück zum Zitat Nurmi EL, Bradford Y, Chen Y et al (2001) Linkage disequilibrium at the Angelman syndromegene UBE3A in autism families. Genomics 77:105–113PubMedCrossRef Nurmi EL, Bradford Y, Chen Y et al (2001) Linkage disequilibrium at the Angelman syndromegene UBE3A in autism families. Genomics 77:105–113PubMedCrossRef
92.
Zurück zum Zitat Palmen SJ, Hulshoff Pol HE, Kemner C et al (2005) Increased grey-matter volume in medication-naive high-functioning children with autism spectrum disorder. Psychol Med 35(4):561–570PubMedCrossRef Palmen SJ, Hulshoff Pol HE, Kemner C et al (2005) Increased grey-matter volume in medication-naive high-functioning children with autism spectrum disorder. Psychol Med 35(4):561–570PubMedCrossRef
93.
94.
Zurück zum Zitat Persico AM, D’Agruma L, Maiorano N et al (2001) Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry 6(2):150–159PubMedCrossRef Persico AM, D’Agruma L, Maiorano N et al (2001) Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry 6(2):150–159PubMedCrossRef
95.
Zurück zum Zitat Peters SU, Beaudet AL, Madduri N et al (2004) Autism in Angelman syndrome: implications for autism research. Clin Genet 66:530–536PubMedCrossRef Peters SU, Beaudet AL, Madduri N et al (2004) Autism in Angelman syndrome: implications for autism research. Clin Genet 66:530–536PubMedCrossRef
96.
Zurück zum Zitat Pilarski R, Eng C (2004) Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. Neuron 30:79–89 Pilarski R, Eng C (2004) Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. Neuron 30:79–89
97.
Zurück zum Zitat Piven J, Arndt S (1995) The cerebellum and autism. Neurology 45(2):398–402PubMed Piven J, Arndt S (1995) The cerebellum and autism. Neurology 45(2):398–402PubMed
98.
Zurück zum Zitat Piven J, Arndt S, Bailey J et al (1996) Regional brain enlargement in autism: a magnetic resonance imaging study. J Am Acad Child Adolesc Psychiatry 35(4):530–536PubMedCrossRef Piven J, Arndt S, Bailey J et al (1996) Regional brain enlargement in autism: a magnetic resonance imaging study. J Am Acad Child Adolesc Psychiatry 35(4):530–536PubMedCrossRef
99.
Zurück zum Zitat Powell EM, Mars WM, Levitt P (2001) Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon. Neuron 30(1):79–89PubMedCrossRef Powell EM, Mars WM, Levitt P (2001) Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon. Neuron 30(1):79–89PubMedCrossRef
100.
Zurück zum Zitat Powell EM, Mühlfriedel S, Bolz J et al (2003) Differential regulation of thalamic and cortical axonal growth by hepatocyte growth factor/scatter factor. Dev Neurosci 25:197–206PubMedCrossRef Powell EM, Mühlfriedel S, Bolz J et al (2003) Differential regulation of thalamic and cortical axonal growth by hepatocyte growth factor/scatter factor. Dev Neurosci 25:197–206PubMedCrossRef
101.
Zurück zum Zitat Qin J, Jia M, Wang L et al (2009) Association study of SHANK3 gene polymorphisms with autism in Chinese Han population. BMC Med Genet 10:61PubMedCrossRef Qin J, Jia M, Wang L et al (2009) Association study of SHANK3 gene polymorphisms with autism in Chinese Han population. BMC Med Genet 10:61PubMedCrossRef
102.
Zurück zum Zitat Radyushkin K, Hammerschmidt K, Boretius S et al (2009) Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit. Genes Brain Behav 8(4):416–425PubMedCrossRef Radyushkin K, Hammerschmidt K, Boretius S et al (2009) Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit. Genes Brain Behav 8(4):416–425PubMedCrossRef
103.
Zurück zum Zitat Ramocki MB, Zoghbi HY (2008) Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature 455(7215):912–918PubMedCrossRef Ramocki MB, Zoghbi HY (2008) Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature 455(7215):912–918PubMedCrossRef
104.
Zurück zum Zitat Redcay E, Courchesne E (2005) When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biol Psychiatry 58(1):1–9PubMedCrossRef Redcay E, Courchesne E (2005) When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biol Psychiatry 58(1):1–9PubMedCrossRef
105.
Zurück zum Zitat Remschmidt H, Hebebrand J (2001) Das Asperger-Syndrom. Eine aktuelle Übersicht. Z Kinder Jugendpsychiatr Psychother 29:59–69PubMedCrossRef Remschmidt H, Hebebrand J (2001) Das Asperger-Syndrom. Eine aktuelle Übersicht. Z Kinder Jugendpsychiatr Psychother 29:59–69PubMedCrossRef
106.
Zurück zum Zitat Remschmidt H, Kamp-Becker I (2007) Das Asperger-Syndrom – eine Autismus-Spektrum-Störung. Dtsch Ärztebl 104(13):A873–882 Remschmidt H, Kamp-Becker I (2007) Das Asperger-Syndrom – eine Autismus-Spektrum-Störung. Dtsch Ärztebl 104(13):A873–882
107.
Zurück zum Zitat Remschmidt H (2008) Autismus. In: Herpertz-Dahlmann B, Resch F, Schulte-Markwort M (Hrsg) Entwicklungspsychiatrie. Biopsychologische Grundlagen und die Entwicklung psychischer Störungen. Schattauer, Stuttgart, S 373–396 Remschmidt H (2008) Autismus. In: Herpertz-Dahlmann B, Resch F, Schulte-Markwort M (Hrsg) Entwicklungspsychiatrie. Biopsychologische Grundlagen und die Entwicklung psychischer Störungen. Schattauer, Stuttgart, S 373–396
108.
Zurück zum Zitat Rice SA, Bigler ED, Cleavinger HB et al (2005) Macrocephaly, corpus callosum morphology and autism. J Child Neurol 20(1):34–41PubMedCrossRef Rice SA, Bigler ED, Cleavinger HB et al (2005) Macrocephaly, corpus callosum morphology and autism. J Child Neurol 20(1):34–41PubMedCrossRef
109.
Zurück zum Zitat Richdale AL, Prior MR (1995) The sleep/wake rhythm in children with autism. Eur Child Adolesc Psychiatry 4(3):175–186PubMedCrossRef Richdale AL, Prior MR (1995) The sleep/wake rhythm in children with autism. Eur Child Adolesc Psychiatry 4(3):175–186PubMedCrossRef
110.
Zurück zum Zitat Rojas DC, Bawn SD, Benkers TL et al (2002) Smaller left hemisphere planum temporale in adults with autistic disorder. Neurosci Lett 328:237–240PubMedCrossRef Rojas DC, Bawn SD, Benkers TL et al (2002) Smaller left hemisphere planum temporale in adults with autistic disorder. Neurosci Lett 328:237–240PubMedCrossRef
111.
Zurück zum Zitat Ronald A, Happe F, Bolton P et al (2006) Genetic heterogeneity between the three components of the autism spectrum: a twin study. J Am Acad Child Adolesc Psychiatry 45(6):691–696PubMedCrossRef Ronald A, Happe F, Bolton P et al (2006) Genetic heterogeneity between the three components of the autism spectrum: a twin study. J Am Acad Child Adolesc Psychiatry 45(6):691–696PubMedCrossRef
112.
Zurück zum Zitat Saitoh O, Karns CM, Courchesne E (2001) Development of the hippocampal formation from 2 to 42 years: MRI evidence of smaller area dentata in autism. Brain 124:1317–1324PubMedCrossRef Saitoh O, Karns CM, Courchesne E (2001) Development of the hippocampal formation from 2 to 42 years: MRI evidence of smaller area dentata in autism. Brain 124:1317–1324PubMedCrossRef
113.
Zurück zum Zitat Samaco RC, Hogart A, LeSalle JM (2005) Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 14(4):483–492PubMedCrossRef Samaco RC, Hogart A, LeSalle JM (2005) Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 14(4):483–492PubMedCrossRef
114.
Zurück zum Zitat Scheffner M, Huibregtse JM, Vierstra RD et al (1993) The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53. Cell 75(3):495–505PubMedCrossRef Scheffner M, Huibregtse JM, Vierstra RD et al (1993) The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53. Cell 75(3):495–505PubMedCrossRef
115.
Zurück zum Zitat Sebat J, Lakshmi B, Troge J et al (2004) Large-scale copy number polymorphism in the human genome. Science 305(5683):525–528PubMedCrossRef Sebat J, Lakshmi B, Troge J et al (2004) Large-scale copy number polymorphism in the human genome. Science 305(5683):525–528PubMedCrossRef
116.
Zurück zum Zitat Sebat J, Lakshmi B, Malhotra D et al (2007) Strong association of de novo copy number mutations with autism. Science 316:445–449PubMedCrossRef Sebat J, Lakshmi B, Malhotra D et al (2007) Strong association of de novo copy number mutations with autism. Science 316:445–449PubMedCrossRef
117.
Zurück zum Zitat Serajee FJ, Zhong H, Mahbubul Hug AH (2006) Association of Reelin gene polymorphisms with autism. Genomics 87(1):75–83PubMedCrossRef Serajee FJ, Zhong H, Mahbubul Hug AH (2006) Association of Reelin gene polymorphisms with autism. Genomics 87(1):75–83PubMedCrossRef
118.
Zurück zum Zitat Skaar DA, Shao Y, Haines JL et al (2005) Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry 10(6):563–571PubMedCrossRef Skaar DA, Shao Y, Haines JL et al (2005) Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry 10(6):563–571PubMedCrossRef
119.
Zurück zum Zitat Skuse DH (2007) Rethinking the nature of genetic vulnerability to autism spectrum disorders. Trends Genetic 23(8):387–395CrossRef Skuse DH (2007) Rethinking the nature of genetic vulnerability to autism spectrum disorders. Trends Genetic 23(8):387–395CrossRef
120.
Zurück zum Zitat Slavotinek AM (2008) Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124(1):1–17PubMedCrossRef Slavotinek AM (2008) Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124(1):1–17PubMedCrossRef
121.
Zurück zum Zitat Sparks BF, Friedman SD, Shaw DW et al (2002) Brain structural abnormalities in young children with autism spectrum disorder. Neurology 59(2):184–192PubMed Sparks BF, Friedman SD, Shaw DW et al (2002) Brain structural abnormalities in young children with autism spectrum disorder. Neurology 59(2):184–192PubMed
122.
Zurück zum Zitat Stanfield AC, McIntosh AM, Spencer MD et al (2008) Towards a neuroanatomy of autism: a systematic review and meta-analysis of structural magnetic resonance imaging studies. Eur Psychiatry 23(4):289–299PubMedCrossRef Stanfield AC, McIntosh AM, Spencer MD et al (2008) Towards a neuroanatomy of autism: a systematic review and meta-analysis of structural magnetic resonance imaging studies. Eur Psychiatry 23(4):289–299PubMedCrossRef
123.
Zurück zum Zitat Steffenburg S, Gillberg C, Hellgren L et al (1989) A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 30(3):405–416PubMedCrossRef Steffenburg S, Gillberg C, Hellgren L et al (1989) A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 30(3):405–416PubMedCrossRef
124.
Zurück zum Zitat Sykes DH (2007) Rethinking the nature of genetic vulnerability to autism spectrum disorders. Trends Genetic 23(8):387–395CrossRef Sykes DH (2007) Rethinking the nature of genetic vulnerability to autism spectrum disorders. Trends Genetic 23(8):387–395CrossRef
125.
Zurück zum Zitat Szatmari P, Paterson AD, Zwaigenbaum L et al (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39(3):319–328PubMedCrossRef Szatmari P, Paterson AD, Zwaigenbaum L et al (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39(3):319–328PubMedCrossRef
126.
Zurück zum Zitat Tidmarsh L, Volkmar FR (2003) Diagnosis and epidemiology of autism spectrum disorders. Can J Psychiatry 48:517–525PubMed Tidmarsh L, Volkmar FR (2003) Diagnosis and epidemiology of autism spectrum disorders. Can J Psychiatry 48:517–525PubMed
127.
Zurück zum Zitat Varoqueaux F, Aramuni G, Rawson RL et al (2006) Neuroligins determine synapse maturation and function. Neuron 51(6):741–754PubMedCrossRef Varoqueaux F, Aramuni G, Rawson RL et al (2006) Neuroligins determine synapse maturation and function. Neuron 51(6):741–754PubMedCrossRef
128.
Zurück zum Zitat Vincent JB, Kolozsvari D, Roberts WS et al (2004) Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. Am J Med Genet B Neuropsychiatr Genet 129B(1):82–84PubMedCrossRef Vincent JB, Kolozsvari D, Roberts WS et al (2004) Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. Am J Med Genet B Neuropsychiatr Genet 129B(1):82–84PubMedCrossRef
129.
Zurück zum Zitat Volkmar FR, Nelson DS (1990) Seizure disorders in autism. J Am Acad Child Adolesc Psychiatry 29(1):127–129PubMedCrossRef Volkmar FR, Nelson DS (1990) Seizure disorders in autism. J Am Acad Child Adolesc Psychiatry 29(1):127–129PubMedCrossRef
130.
Zurück zum Zitat Vorstman JA, Staal WG, Daalen E van et al (2006) Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 11(1):18–28CrossRef Vorstman JA, Staal WG, Daalen E van et al (2006) Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 11(1):18–28CrossRef
131.
Zurück zum Zitat Weiss LA, Shen Y, Korn JM et al (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7):667–675PubMedCrossRef Weiss LA, Shen Y, Korn JM et al (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7):667–675PubMedCrossRef
132.
Zurück zum Zitat Wilson HL, Crolla JA, Walker D et al (2008) Intersitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development. Eur J Hum Genet 2008 16(11):1301–1310CrossRef Wilson HL, Crolla JA, Walker D et al (2008) Intersitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development. Eur J Hum Genet 2008 16(11):1301–1310CrossRef
133.
Zurück zum Zitat Yan J, Oliveira G, Coutinho A et al (2005) Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry 10(4):329–332PubMedCrossRef Yan J, Oliveira G, Coutinho A et al (2005) Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry 10(4):329–332PubMedCrossRef
134.
Zurück zum Zitat Zhang H, Liu X, Zhang C et al (2002) Reelin gene alleles and susceptibility to autism spectrum disorders. Mol Psychiatry 7(9):1012–1017PubMedCrossRef Zhang H, Liu X, Zhang C et al (2002) Reelin gene alleles and susceptibility to autism spectrum disorders. Mol Psychiatry 7(9):1012–1017PubMedCrossRef
135.
Zurück zum Zitat Zhao X, Leotta A, Kustanovich V et al (2007) A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A 104:12831–12836PubMedCrossRef Zhao X, Leotta A, Kustanovich V et al (2007) A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A 104:12831–12836PubMedCrossRef
Metadaten
Titel
Genetische und hirnstrukturelle Anomalien bei Autismus-Spektrum-Störungen
Eine Brücke zum Verständnis der Ätiopathogenese?
verfasst von
Dr. T. Nickl-Jockschat
T.M. Michel
Publikationsdatum
01.05.2011
Verlag
Springer-Verlag
Erschienen in
Der Nervenarzt / Ausgabe 5/2011
Print ISSN: 0028-2804
Elektronische ISSN: 1433-0407
DOI
https://doi.org/10.1007/s00115-010-2989-5

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