The neurodevelopmental hypothesis of schizophrenia: Genetic investigations

CNS Spectrums

Volumn 4, Issue 6, 1999, Pages 78-90

  Muglia, Pierandrea ^a   Macciardi, Fabio ^a   Kennedy, James L ^a  

^a UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

NERVE CELL ADHESION MOLECULE; NEUROTROPHIC FACTOR; SYNAPSIN;

BRAIN DEVELOPMENT; DISEASE PREDISPOSITION; DNA POLYMORPHISM; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC PREDISPOSITION; INHERITANCE; INTRAVENOUS DRUG ADMINISTRATION; NERVE CELL DIFFERENTIATION; NEUROTRANSMISSION; PRIORITY JOURNAL; REVIEW; SCHIZOPHRENIA;

EID: 0032982583     PISSN: 10928529     EISSN: None     Source Type: Journal    
DOI: 10.1017/s1092852900011913     Document Type: Review

References (87)

1. World Health Organization. The /CD-70 Classification of Mental and Behavioural Disorders: Clinical Descriptions and Diagnostic Guidelines. Geneva, Switzerland: World Health Organization; 1992.
2. McGue M, Gottesman LL. The genetic epidemiology of schizophrenia and the design of linkage studies. Eur Arch Psychiatry Clin Neurosci. 1991;240:174-181.
3. Cardno AG, Marshall EJ, Coid B, et al. Heritability estimates for psychotic disorders: the Maudsley Twin Psychosis Series. Arch Gen Psychiatry. 1999;56:162-168.
4. Seeman P, Chau-Wong M, Tedesco J, Wong K. Brain receptors for antipsychotic drugs and dopamine: direct binding assays. Proc Natl Acad Sei USA. 1975;72:4376-4380.
5. Liddle PR Brain imaging. In: Hisch SR, Weinberger DR, eds. Schizophrenia. London, UK: Blackwood; 1995:425-439.
6. Eagles JM, Gibson I, Bremner MH, et al. Obstetric complications in DSM-I1I schizophrenics and their siblings. Lancet. 1990;335:1139-1141.
7. Mednick SA, Machon RA, Huttunen MO, Bonnet D. Adult schizophrenia following prenatal exposure to an influenza epidemic. Arch Gen Psychiatry. 1988;45:189-192.
8. Feinberg I. Schizophrenia: caused by a fault in programmed synaptic elimination during adolescence? J PsychiatrRes. 1983;17:319-334.
9. Pettegrew JW. Alterations in brain high-energy phosphate and membrane phospholipid metabolism in firstepisode, drug-naive schizophrenics: a pilot study of the dorsal prefronlal cortex by in vivo phosphorus 31 nuclear magnetic resonance spectroscopy. Arch Gen Psychiatry. 1991;48:563-568.
10. Murray RM, O'Callaghan E, Castle DJ, Lewis SW. A neurodevelopmental approach to the classification of schizophrenia. Schizophr Bull. 1992;18:319-332.
11. Benes FM, Davidson J, Bird ED. Quantitative cytoarchitectural studies of the cerebral cortex of schizophrenics. Arch Gen Psychiatry. 1986;43:31-35.
12. Johnstone EC, Crow TJ, Frith CD, Husband J, Kreel L. Cerebral ventricular size and cognitive impairment in chronic schizophrenia. Lancet. 1976;9:24-26.
13. Weinberger DR, Torrey EF, Neopytides A, Wyatt RJ. Lateral cerebral ventricular enlargement in chronic schizophrenia. Arch Gen Psychiatry. 1979;36:735-739.
14. Owens DG, Johnstone EC, Crow TJ, Frith CD, Jagoe JR, Kreel L. Lateral ventricular size in schizophrenia: relationship to the disease process and its clinical manifestations. PsycholMed. 1985;15:27-41.
15. Crow TJ, Colter N, Brown R, Bruton CJ, Johnston EC. Lateralised asymmetry of temporal horn enlargement in schizophrenia. Schizophr Res. 1988;1:155-156.
16. DeLisi LE, Dauphinais ID, Gershon ES. Perinatal complications and reduced size of brain limbic structures in familial schizophrenia. Schizophr Bull. 1988;14:185-191.
17. Johnstone EC, Owens DG, Crow TJ, et al. Temporal lobe structure as determined by nuclear magnetic resonance in schizophrenia and bipolar affective disorder. J Neural Neurosurg Psychiatry. 1989;52:736-741.
18. Rossi A, Stratta P, D'Albenzio L, et al. Reduced temporal lobe areas in schizophrenia: preliminary evidence from a controlled multiplanar magnetic resonance imaging study. Biol Psychiatry. 1990;27:61-68.
19. Young AH, Blackwood DH, Roxborough H, McQueen JK, Martin MJ, Kean D. A magnetic resonance imaging study of schizophrenia: brain structure and clinical symptoms. Br J Psychiatry. 1991;158:158-164.
20. Swayze VW, Andreasen NC, Alliger RJ, Yuh WT, Ehrhardt JC. Subcortical and temporal structures in affective disorder and schizophrenia: a magnetic resonance imaging study. Biol Psychiatry. 1992;31:221-240.
21. Kelsoe JR Jr, Cadet JL, Pickar D, Weinberger DR. Quantitative neuroanatomy in schizophrenia. Arch Gen Psychiatry. 1988;45:533-541.
22. Suddath RL, Casanova MF, Goldberg TE, Daniel DG, Kelsoe JR Jr, Weinberger DR. Temporal lobe pathology in schizophrenia: a quantitative magnetic resonance imaging study. Am J Psychiatry. 1989;146:464-472.
23. Barta PE, Pearlson GD, Powers RE, Richards SS, Tune LE. Auditory hallucinations and smaller superior temporal gyral volume in schizophrenia. Am J Psychiatry. 1990;147:1457-1462.
24. Bogerts B, Ashtari M, Degreef G, Alvir JM, Bilder RM, Lieberman JA. Reduced temporal limbic structure volumes on magnetic resonance images in first episode schizophrenia. Psychiatry Res. 1990;35:1-13.
25. Degreef G, Ashtari M, Bogerts B, et al. Volumes of ventricular system subdivisions measured from magnetic resonance images in first-episode schizophrenic patients. Arch Gen Psychiatry. 1992;49:531-537.
26. DeLisi LE, Hoff AL, Schwartz JE, et al. Brain morphology in first-episode schizophrenic-like psychotic patients: a quantitative magnetic resonance imaging study. Biol Psychiatry. 1991;29:159-175.
27. Suddath RL, Christison GW, Torrey EF, Casanova MF, Weinberger DR. Anatomical abnormalities in the brains of monozygotic twins discordant for schizophrenia. W EnglJMed. 1990;322:789-794.
28. Reveley AM, Reveley MA, Clifford CA, Murray RM. Cerebral ventricular size in twins discordant for schizophrenia. Lancet. 1982; 1:540-541.
29. Casanova MF, Sanders RD, Goldberg TE, et al. Morphometry of the corpus callosum in monozygotic twins discordant for schizophrenia: a magnetic resonance imaging study. J Neural Neurosurg Psychiatry. 1990;53:416-421.
30. Jakob H, Beckmann II. Prenatal developmental disturbances in the limbic allocortex in schizophrenics. J Neural Transm. 1986;65:903-926.
31. Arnold SE, Hyman BT, Van Hoesen GW, Damasio AR. Some cytoarchitectural abnormalities of the entorhinal cortex in schizophrenia. Arch Gen Psychiatry. 1991;48:625-632.
32. Benes FM, McSparran J, Bird ED, SanGiovanni JP, Vincent SL. Deficit in small intemeurons in prefrontal and cingualte cortices of schizophrenic and schizoaffective patients. Arch Gen Psychiatry. 1991;48:990-1001.
33. Akbarian S, Bunney WE Jr, Potkin SG, Wigal SB, Hagman JO, Sandman CA. Altered distribution of nicotinamide-adenine dinucleotide phosphatediaphorase cells in frontal lobe of schizophrenics implies disturbances of cortical development. Arch Gen Psychiatry. 1993;50:169-177.
34. Weiberger DR. Schizophrenia as a neurodevelopmental disorder. In: Hirsh SR, Weinberger DR, eds. Schizophrenia. London, UK: Blackwood; 1995:295-323.
35. Rakic P. Specification of specifical cortical areas. Science. 1988;241:170-176.
36. Stevens JR. Neuropathology of schizophrenia. Arch Gen Psychiatry. 1982;39:1131-1139.
37. Lewis SW, Murray RM. Obstetric complications, neurodevelopmental deviance, and risk of schizophrenia. J Psychiatr Res. 1987;21:413-421.
38. Fish B, Marcus J, Hans SL, Auerbach JG, Perdue S. Infants at risk for schizophrenia: sequelae of genetic neurointegrative defect. Arch Gen Psychiatry. 1992;49:221-235.
39. Cannon TD, Mednick SA, Parnas J. Genetic and perinatal determinants of structural brain deficits in schizophrenia. Arch Gen Psychiatry. 1989;46:883-889.
40. Cannon TD, Mednick SA, Parnas J, Schulsinger F, Praestholm J, Vestergaard A. Developmental brain abnormalities in the offspring of schizophrenic mothers, I: contributions of genetic and perinatal factors. Arch Gen Psychiatry. 1993;50:551-564.
41. Ruiz I, Altaba A. Pattern formation in the vertebrate neural plate. Trends Neurosci. 1994;17:233-243.
42. Brunelli S, Faiella A, Capra V, et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet. 1996;12:94-96.
43. Jacobson M. Developmental Neuropathology. New York, NY: Plenum Press; 1991.
44. Akbarian S, Kim JJ, Potkin SG, Hetrick WP, Bunney WE Jr, Jones E. Maldistribution of interstitial neurons in prefrontal white matter of the brains of schizophrenic patients. Arch Gen Psychiatry. 1996;53:425-436.
45. Cunningham BA. Cell adhesion molecules as morphoregulators. Curr Opin Cell Biol. 1995;7:628-633.
46. Gower HJ, Barton CH, Elsom VL, et al. Alternative splicing generates a secreted form of N CAM in muscle and brain. Cell. 1988;55:955-964.
47. Doherty P, Fruns M, Seaton P, et al. A threshold effect of the major isoforms of NCAM on neunte outgrowth. Nature. 1990;343:464-466.
48. Acheson A, Sunshine JL, Rutishauser U. NCAM polysialic acid can regulate both cell-cell and cell-substrate interactions. J Cell Biol. 1991;114:143-153.
49. Ono K, Tomasiewicz H, Magnuson T, Rutishauser U. N-CAM mutation inhibits tangential neuronal migration and is phenocopied by enzymatic removal of polysialic , acid. Neuron. 1994;13:595-609.
50. Barbeau D, Liang JJ, Robitalille Y, Quirion R, Srivastava LK. Decreased expression of the embryonic form of the neural cell adhesion molecule in schizophrenic brains. Proc l\atl Acad Sei USA. 1995;92:2785-2789. .
51. Vicente AM, Macciardi F, Verga M, et al. NCAM and schizophrenia: genetic studies. Mol Psychiatry. 1997;2:65-69.
52. Kennedy JL, Pato MT, Bauer A, Carvalho C, Pato CN. Genetics of schizophrenia: current findings and issues. CNS Spectrum. 1999;4(5):17-21.
53. Cowan WM, Fawcett JW, O'Leary DD, Stanfield BB. Regressive events in neurogenesis. Science. 1984;225:1258-1265.
54. Levi-Montalcini R. The nerve growth factor 35 years later. Science. 1987;237:1154-1162.
55. Leibrock J, Lottspeich F, Hohn A, et al. Molecular cloning and expression of brain-derived neurotrophic factor. Nature. 1989;341:149-152.
56. Maisonpierre PC, Le Beau MM, Espinosa R III, et al. Human and rat brain-derived neurotrophic factor and neurotrophin-3: gene structures, distributions, and chromosomal localizations. Genomics. 1991;10:558-568.
57. Ip NY, Ibanez CF, Nye SH, et al. Mammalian neurotrophin-4: structure, chromosomal localization, tissue distribution, and receptor specificity. Proc Nail Acad Sei USA. 1992;89:3060-3064.
58. Glass DJ, Yancopoulos GD. The neurotrophins and their receptors. Trends Cell Biol. 1993;3:262-268.
59. Zhou J, Bradford HF, Stem GM. Influence of BDNF on the expression of the dopaminergic phenotype of tissue used for brain transplants. Brain Res Dev Brain Res. 1997;20:43-51.
60. Falkai P, Bogerts B. Limbic pathology in schizophrenia. Biol Psychiatry. 1988;24:515-521.
61. ol.Selemon LD, Rajkowska G, Goldman-Rakic PS. Abnormally high neuronal density in the schizophrenic cortex: a morphometric analysis of prefrontal area 9 and occipital area 17. Arch Gen Psychiatry. 1995;52:805-818.
62. Brouha AK, Weickert CS, Hyde TM, et al. Reductions in brain derived neurotrophic factor mRNA in the hippocampus of patients with schizophrenia [abstract]. Presented at the 26th Annual Meeting of the Society for Neuroscience; Washington, DC; November 16-21,1996. Volume 22, part 3:1680. [Abstract #65819].
63. Hanson IM, Seawright A, van Heyningen V. The human BDNF gene maps between FSHB and HVBS1 at the boundary of Ilpl3-pl4. Genomics. 1992;13:1331-1333.
64. Rosier MF, Goguel AF, Martin A, et al. A 1.7-Mb YAC contig around the human BDNF gene (Ilpl3): integration of the physical, genetic, and cytogenetic maps in relation to WAGR syndrome. Genomics. 1994;24:69-77.
65. Proschel M, Saunders A, Roses AD, Muller CR. Dinucleotide repeat polymorphism at the human gene for the brain-derived neurotrophic factor (BDNF). Hum Mol Genet. 1992;1:353.
66. Sasaki T, Dai XY, Kuwata S, et al. Brain-derived neurotrophic factor gene and schizophrenia in Japanese subjects. Am J Med Genet. 1997;74:443-444.
67. Hawi Z, Sträub RE, O'Neill A, Kendler KS, Walsh D, Gill M. No linkage or linkage disequilibrium between brain-derived neurotrophic factor (BDNF) dinucleotide repeat polymorphism and schizophrenia in Irish families. Psychiatry Res. 1998;81:111-116.
68. Maisonpierre PC, Belluscio L. Friedman B, et al. NT-3, BDNF, and NGF in the developing rat nervous system: parallel as well as reciprocal patterns of expression. Neuron. 1990;5:501-509.
69. Nanko S, Hattori M, Kuwata S, et al. Neurolrophin-3 gene polymorphism associated with schizophrenia. Ada Psychialr Scand. 1994;89:390-392.
70. Hattori M, Nanko S. Association of neurotrophin-3 gene variant with severe form of schizophrenia. Biochem Blophys Res Commun. 1995;209:513-518.
71. Dawson E, Powell JF, Sham PC, et al. An association study of a neurotrophin-3 (NT-3) gene polymorphism with schizophrenia. Ada Psychialr Scand. 1995;92:425-428.
72. Nimganocar VL, Zhang XR, Brar JS, DeLeo M, Ganguli R. Lack of association of schizophrenia with the neurolrophin-3 gene locus. Acta Psychialr Scand. 1995;92:461-466.
73. Jonsson E, Brene S, Zhang XR, et al. Schizophrenia and neurotrophin-3 alleles. Acta Psychiatr Scand. 1997;95:414-419.
74. Thome J, Durany N, Palomo A, et al. Variants in neurotrophic factor genes and schizophrenic psychoses: no associations in a Spanish population. Psychiatry Res. 1997;71:l-5.
75. Zigmond RE, Schwarzschild MA, Rittenhouse AR. Acute regulation of tyrosine hydroxylase by nerve activity and by neurotransmitters via phosphorylation. Annu ; RevNeurosci. 1989;12:415-461.
76. Vitry.FD, Hillion J, Catelon J, Thibault J, Benoliel JJ, Hamon M. Dopamine increases the expression of tyrosine hydroxylase and aromatic amino acid decarboxylase in primary cultures of fetal neurons. Brain Res Dev '- Brain Res. 1991;59:123-131.
77. Zhou J, Bradford HF, Stern GM. The stimulator)- effect of i brain-derived neurotrophic factor on dopaminergic phenotype expression of embryonic rat cortical neurons in . vitro. Brain Res Dev Brain Res. 1994;81:318-324.
78. Sollner T, Rothman JE. Neurotransmission: harnessing , fusion machinery at the synapse. Trends Neurosci. 1994;17:344-348.
79. Sudhof TC. The structure of the human synapsin I gene and protein. J Biol Chem. 1990;15;7849-7852.
80. Han HQ, Nichols RA, Rubin MR, Bahler M, Greengard P. Induction of formation of presynaptic terminals in neuroblastoma cells by synapsin lib. Nature. 1991;349:697-700.
81. Catsicas S, Larhammar D, Blomqvist A, Sanna PP, Milner RJ, Wilson MC. Expression of a conserved celltype-specific protein in nerve terminals coincides with synaptogenesis. ProcNail AcadSei USA. 1991;88:785-789.
82. Loti XJ, Bixby JL Patterns of presynaptic gene expression define two stages of synaptic differentiation. Mol Cell Neurosci. 1995;6:252-262.
83. Ösen-Sand A, Catsicas M, Staple JK, et al. Inhibition of axonal growth by SNAP-25 antisense oligonucleotides in vitro and in vivo. Nature. 1993;364:445448.
84. Thompson PM, Sower AC, Perrone-Bizzozero NI. Altered levels of the synaptosomal associated protein SNAP-25 in schizophrenia. Biol Psychiatry. 1998;43:239-243.
85. Karson CN, Mrak RE, Schluterman KO, Stumer WQ, Sheng JG, Griffin WS. Alterations in synaptic proteins and their encoding mRNAs in prefrontal cortex in schizophrenia: a possible neurochemical basis for "hypofrontality." Mol Psychiatry. 1999;4:39-45.
86. Young CE, Arima K, Xie J, et al. SNAP-25 deficit and hippocampal connectivity in schizophrenia. Cereb Cortex. 1998;8:261-268.
87. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science. 1996;273:1516-1517.