Cortical dysgenesis: Recent aspects regarding pathogenesis and pathophysiology;Kortikale dysgenesien: Aktuelle aspekte zur pathogenese und pathophysiologie

Nervenarzt

Volumn 71, Issue 4, 2000, Pages 238-248

  Redecker, C ^a   Hagemann, G ^a   Gressens, P ^b   Evrard, P ^b   Witte, O W ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Brain development; Cortical malformation; Epilepsy; Migration disorder; Pathophysiology

Indexed keywords

4 AMINOBUTYRIC ACID; GLUTAMIC ACID; GROWTH FACTOR; NEUROTRANSMITTER; NEUROTROPHIN 4;

BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN MALFORMATION; EPILEPSY; GENE MUTATION; HUMAN; NERVOUS SYSTEM MALFORMATION; NONHUMAN; PATHOPHYSIOLOGY; REVIEW;

ABNORMALITIES; ANIMALS; BRAIN; BRAIN DISEASES; CELL MIGRATION INHIBITION; CELL MOVEMENT; DISEASE MODELS, ANIMAL; HUMANS; MUTATION; NEURONS;

EID: 0034109053     PISSN: 00282804     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001150050553     Document Type: Review

References (108)

1. Alcantara S, Ruiz M, DArcangelo G, Ezan F, deLecea L, Curran T, Sotelo C, Soriano E (1998) Regional and cellular patterns of reelin mRNA expression in the forebrain of the developing and adult mouse. J Neurosci 18:7779-7799
2. Anton ES, Marchionni MA, Lee KF, Rakic P (1997) Role of GGF/neuregulin signaling in interactions between migrating neurons and radial glia in the developing cerebral cortex. Development 124:3501-3510
3. Baraban SC, Schwartzkroin PA (1996) Flurothyl seizure susceptibility in rats following prenatal methylazoxymethanol treatment. Epilepsy Res 23:189-194
4. Barker JL, Behar T, Li YX, Liu QY, Ma W, Maric D, Maric I, Schaffner AE, Serafini R, Smith SV, Somogyi R, Vautrin JY, Wen XL, Xian H (1998) GABAergic cells and signals in CNS development. Perspect Dev Neurobiol 5:305-322
5. Barkovich AJ (1996) Malformations of neocortical development: magnatic resonance imaging correlates. Curr Opin Neurol 9:118-121
6. Barkovich AJ, Ferriero DM, Barr RM, Gressens P, Dobyns WB, Truwit CL, Evrard P (1998) Microlissencephaly:a heterogeneous malformation of cortical development. Neuropediatrics 29:113-119
7. Barkovich AJ, Gressens P, Evrard P (1992) Formation, maturation, and disorders of brain neocortex. Am J Neuroradiol 13:423-446
8. Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P (1996) A classification scheme for malformations of cortical development. Neuropediatrics 27:59-63
9. Barkovich AJ, Rowley HA, Andermann F (1995) MR in partial epilepsy: value of high-resolution volumetric techniques. Am J Neuroradiol 16:339-343
10. Behar TN, Li YX, Tran HT, Ma W, Dunlap V, Scott C, Barker JL (1996) GABA stimulates chemotaxis and chemokinesis of embryonic cortical neurons via calcium-dependent mechanisms. J Neurosci 16:1808-1818
11. Behar TN, Schaffner AE, Scott CA, O'Connell C, Barker JL (1998) Differential response of cortical plate and ventricular zone cells to GABA as a migration stimulus. J Neurosci 18:6378-6387
12. Berry M, Rogers AW (1965) The migration of neuroblasts in the developing cerebral cortex. J Anat 99:691-709
13. Bix GJ, Clark GD (1998) Platelet-activating factor receptor stimulation disrupts neuronal migration in vitro. J Neurosci 18:307-318
14. Borrell V, Del Rio JA, Alcantara S et al. (1999) Reelin regulates the development and synaptogenesis of the layer-specific entorhino-hippocampal connections. J Neurosci 19:1345-1358
15. Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E (1996) Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12:94-96
16. Brunstrom JE, Grayswain MR, Osborne PA, Pearlman AL (1997) Neuronal heterotopias in the developing cerebral cortex produced by neurotrophin 4. Neuron 18:505-517
17. Bullmore ET, Woodruff PW, Wright IC, Rabe HS, Howard RJ, Shuriquie N, Murray RM (1998) Does dysplasia cause anatomical dysconnectivity in schizophrenia? Schizophr Res 30:127-135
18. Caric D, Gooday D, Hill RE, McConnell SK, Price DJ (1997) Determination of the migratory capacity of embryonic cortical cells lacking the transcription factor Pax-6. Development 124:5087-5096
19. Caviness VSJ, Rakic P (1978) Mechanisms of cortical developments:a view from mutations in mice. Ann Rev Neurose. 1:297-326:297-326
20. Cendes F, Cook MJ, Watson C, Andermann F, Fish DR,Shorvon SD, Bergin P, Free S, Dubeau F, Arnold DL (1995) Frequency and characteristics of dual pathology in patients with lesional epilepsy. Neurology 45:2058-2064
21. Chevassus-au-Louis N, Ben-Ari Y, Vergnes M (1998) Decreased seizure threshold and more rapid rate of kindling in rats with cortical malformation induced by prenatal treatment with methylazoxymethanol. Brain Res 812:252-255
22. Chevassus-au-Louis N, Congar P, Represa A, Ben-Ari Y, Gaiarsa JL (1998) Neuronal migration disorders: heterotopic neocortical neurons in CA1 provide a bridge between the hippocampus and the neocortex. Proc Natl Acad Sci USA 95:10263-10268
23. Chevassus-au-Louis N, Rafiki A, Jorquera I, Ben-Ari Y, Represa A (1998) Neocortex in the hippocampus:an anatomical and functional study of CA1 heterotopias after prenatal treatment with methylazoxymethanol in rats. J Comp Neurol 394:520-536
24. Clark GD, Mizuguchi M, Antalffy B, Barnes J, Armstrong D (1997) Predominant localization of the LIS family of gene products to Cajal-Retzius cells and ventricular neuroepithelium in the developing human cortex. J Neuropathol Exp Neurol 56:1044-1052
25. Colacitti C, Sancini G, DeBiasi S et al. (1999) Prenatal methylazoxymethanol treatment in rats produces brain abnormalities with morphological similarities to human developmental brain dysgeneses. J Neuropathol Exp Neurol 58:92-106
26. Curran T, D'Arcangelo G (1998) Role of reelin in the control of brain development. Brain Res Brain Res Rev 26:285-294
27. D'Arcangelo G, Miao GG, Chen SC, Soares HD, Morgan JI, Curran T (1995) A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 374:719-723
28. des Portes V, Francis F, Pinard JM et al. (1998) Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet 7:1063-1070
29. des Portes V, Pinard JM, Billuart P et al. (1998) A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 92:51-61
30. DeSilva U, D'Arcangelo G, Braden VV, Chen J, Miao GG, Curran T, Green ED (1997) The human reelin gene: isolation, sequencing, and mapping on chromosome 7. Genome Re. 7:157-164
31. Dobyns WB, Kuzniecky R (1996) Normal development and malformations of the cortex. In: Wyllie E (ed) The treatment of epilepsy: principles and practice. Williams & Wilkins, Baltimore, pp 93-105
32. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH (1993) Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 270:2838-2842
33. Eksioglu YZ, Scheffer IE, Cardenas P et al. (1996) Periventricular heterotopia:an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 16:77-87
34. Fernandez G, Effenberger O, Vinz B, Steinlein O, Elger CE, Dohring W, Heinze HJ (1998) Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. Neurology 50:909-917
35. Fitch RH, Tallal P, Brown CP, Galaburda AM, Rosen GD (1994) Induced microgyria and auditory temporal processing in rats:a model for language impairment? Cereb Cortex 4:260-270
36. Fogli A, Guerrini R, Moro F et al. (1999) Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. Ann Neurol 45:154-161
37. Fox JW, Lamperti ED, Eksioglu YZ et al. (1998) Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21:1315-1325
38. Frotscher M (1997) Dual role of Cajal-Retzius cells and reelin in cortical development. Cell Tissue Res 290:315-322
39. Gadisseux JF, Evrard P, Misson JP, Caviness VSJ (1989) Dynamic structure of the radial glial fiber system of the developing murine cerebral wall. Brain Res Dev Brain Res 50:55-67
40. Gadisseux JF, Kadhim HJ, van den Bosch de Aguilar P, Caviness VSJ, Evrard P (1990) Neuron migration within the radial glial fiber system of the developing murine cerebrum:an electron microscopic autoradiographic analysis. Brain Res Dev Brain Res 52:39-56
41. Galaburda AM (1993) Neurology of developmental dyslexia. Curr. Opin. Neurobiol 3:237-242
42. Galaburda AM, Kemper TL (1979) Cytoarchitectonic abnormalities in developmental dyslexia: a case study. Ann Neurol 6:94-100
43. Germano IM, Sperber EF (1997) Increased seizure susceptibility in adult rats with neuronal migration disorders. Brain Res 777:219-222
44. Germano IM, Sperber EF (1998)Transplacentally induced neuronal migration disorders:an animal model for the study of the epilepsies. J Neurosci Res 51:473-488
45. Germano IM, Zhang YF, Sperber EF, Moshe SL (1996) Neuronal migration disorders increase susceptibility to hyperthermia-induced seizures in developing rats. Epilepsia 37:902-910
46. Gleeson JG, Allen KM, Fox JW et al.1998)-Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92:63-72
47. Gleeson JG, Minnerath SR, Fox JW et al. (1999) Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol 45:146-153
48. Gressens P (1998) Mechanisms of cerebral dysgenesis. Curr Opin Pediatr 10:556-560
49. Gressens P, Hill JM, Paindaveine B, Gozes I, Fridkin M, Brenneman DE (1994) Severe microcephaly induced by blockade of vasoactive intestinal peptide function in the primitive neuroepithelium of the mouse. J. Clin Invest 94:2020-2027
50. Gressens P, Paindaveine B, Hill JM, Evrard P, Brenneman DE (1998) Vasoactive intestinal peptide shortens both G1 and S phases of neural cell cycle in whole postimplantation cultured mouse embryos. Eur J Neurosci 10:1734-1742
51. Hartwig JH (1992) Mechanisms of actin rearrangements mediating platelet activation. J Cell Biol 118:1421-1442
52. Herman AE, Galaburda AM, Fitch RH, Carter AR, Rosen GD (1997) Cerebral microgyria, thalamic cell size and auditory temporal processing in male and female rats. Cereb Cortex 7:453-464
53. Humphreys P, Kaufmann WE, Galaburda AM (1990) Developmental dyslexia in women: neuropathological findings in three patients. Ann Neurol 28:727-738
54. Humphreys P, Rosen GD, Press DM, Sherman GF, Galaburda AM (1991) Freezing lesions of the developing rat brain: a model for cerebrocortical microgyria. J Neuropathol Exp Neurol 50:145-160
55. Huttenlocher PR, Taravath S, Mojtahedi S (1994) Periventricular heterotopia and epilepsy. Neurology 44:51-55
56. Iannetti P, Nigro G, Spalice A, Faiella A, Boncinelli E (1998) Cytomegalovirus infection and schizencephaly: case reports. Ann Neurol 43:123-127
57. Innocenti GM, Berbel P (1991) Analysis of an experimental cortical network: II). Connections of visual areas 17 and 18 after neonatal injections of ibotenic acid. J Neural Transplant Plast 2:29-54
58. Innocenti GM, Berbel P (1991) Analysis of an experimental cortical network:I). Architectonics of visual areas 17 and 18 after neonatal injections of ibotenic acid; similarities with human microgyria. J Neural Transplant Plast 2:1-28
59. Jacobs KM, Gutnick MJ, Prince DA (1996) Hyperexcitability in a model of cortical maldevelopment. Cereb Cortex 6:514-523
60. Jacobs KM, Hwang BJ, Prince DA (1999) Focal epileptogenesis in a rat model of polymicrogyria. J Neurophysiol 81:159-173
61. Johnston RB, Stark RE, Mellits ED, Tallal P (1981) Neurological status of language-impaired and normal children. Ann Neurol 10:159-163
62. Kasper BS, Stefan H, Buchfelder M, Paulus W (1999) Temporal lobe microdysgenesis in epilepsy versus control brains. J Neuropathol Exp Neurol 58:22-28
63. Komuro H, Rakic P (1993) Modulation of neuronal migration by NMDA receptors. Science 260:95-97
64. Komuro H, Rakic P (1998) Orchestration of neuronal migration by activity of ion channels, neurotransmitter receptors, and intracellular Ca2+ fluctuations. J Neurobiol 37:110-130
65. Kuzniecky R, Murro A, King D et al. (1993) Magnetic resonance imaging in childhood intractable partial epilepsies: pathologic correlations. Neurology 43:681-687
66. Lawrie SM, Whalley H, Kestelman JN et al. (1999) Magnetic resonance imaging of brain in people at high risk of developing schizophrenia. Lancet 353:30-33
67. Leblanc R, Tampieri D, Robitaille Y, Feindel W, Andermann F (1996) Surgical treatment of focal epilepsy in patients with schizencephaly. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG and Pfanner P (eds) Dysplasias of cerebral cortex and epilepsy. Lippincott-Raven, New York, pp 417-425
68. Lee KS, Schottler F, Collins JL et al. (1997) A genetic animal model of human neocortical heterotopia associated with seizures. J Neurosci 17:6236-6242
69. Lo Nigro C., Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH (1997) Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 6:157-164
70. Luhmann HJ, Karpuk N, Qu M, Zilles K (1998) Characterization of neuronal migration disorders in neocortical structures. II. Intracellular in vitro recordings. J Neurophysiol 80:92-102
71. Luhmann HJ, Raabe K (1996) Characterization of neuronal migration disorders in neocortical structures expression of epileptiform activity in an animal model. Epilepsy Res 26:67-74.
72. Luhmann HJ, Raabe K, Qu M, Zilles K (1998) Characterization of neuronal migration disorders in neocortical structures: extracellular in vitro recordings. Eur J Neurosci 10:3085-3094
73. Marin-Padilla M (1997) Developmental neuropathology and impact of perinatal brain damage white matter lesions of the neocortex. Curr Opin Neurol 56:219-235
74. Marques Dias MJ, Harmant-van Rijckevorsel G, Landrieu P, Lyon G (1984) Prenatal cytomegalovirus disease and cerebral microgyria:evidence for perfusion failure, not disturbance of histogenesis, as the major cause of fetal cytomegalovirus encephalopathy. Neuropediatrics 15:18-24
75. Marret S, Gressens P, Evrard P (1996) Arrest of neuronal migration by excitatory amino acids in hamster developing brain. Proc Natl Acad Sci USA 93:15463-15468
76. Marret S, Gressens P, Van-Maele-Fabry G, Picard J, Evrard P (1997) Caffeine-induced disturbances of early neurogenesis in whole mouse embryo cultures. Brain Res 773:213-216
77. Marret S, Mukendi R, Gadisseux JF, Gressens P, Evrard P (1995) Effect of ibotenate on brain development: an excitotoxic mouse model of microgyria and posthypoxic-like lesions. J Neuropathol Exp Neurol 54:358-370
78. McBride MC, Kemper TL (1982) Pathogenesis of four-layered microgyric cortex in man. Acta Neuropathol 57:93-98
79. Meencke HJ, Veith G (1992) Migration disturbances in epilepsy. Epilepsy Res [Suppl 9]:31-39
80. Nehlig A, Debry G (1994) Potential teratogenic and neurodevelopmental consequences of coffee and caffeine exposure:a review on human and animal data. Neurotoxicol. Teratol 16:531-543
81. Palmini A, Andermann F, Olivier A, Tampieri D, Robitaille Y (1991) Focal neuronal migration disorders and intractable partial epilepsy: results of surgical treatment. Ann Neurol 30:750-757
82. Palmini A, Andermann F, Olivier A, Tampieri D, Robitaille Y, Andermann E, Wright G (1991) Focal neuronal migration disorders and intractable partial epilepsy: a study of 30 patients. Ann Neuro. 30:741-749
83. Palmini A, Gambardella A, Andermann F et al. 1995) Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results. Ann Neurol 37:476-487
84. Palmini A, Gambardella A, Andermann F et al. (1994) Operative strategies for patients with cortical dysplastic lesions and intractable epilepsy. Epilepsia 35 [Suppl 6]:S57-71
85. Rakic P, Caviness VSJ (1995) Cortical development: view from neurological mutants two decades later. Neuron 14:1101-1104
86. Ramón y Cajal S (1891) Sur la structure de l'écorce cérébrale de quelques mammiferes. La Cellule 7:125-176
87. Raymond AA, Fish DR, Sisodiya SM, Alsanjari N, Stevens JM, Shorvon SD (1995) Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients. Brain 118:629-660
88. Redecker C, Hagemann G, Witte OW, Marret S, Evrard P, Gressens P (1998) Long-term evolution of excitotoxic cortical dysgenesis induced in the developing rat brain. Brain Res Dev Brain Res 109:109-113
89. Redecker C, Lutzenburg M, Gressens P, Evrard P, Witte OW, Hagemann G (1998) Excitability changes and glucose metabolism in experimentally induced focal cortical dysplasias. Cereb Cortex 8:623-634
90. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH (1993) Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364:717-721
91. Retzius G (1894) Weitere Beiträge zur Kenntnis der Cajalschen Zellen der Großhirnrinde beim Menschen und bei Säugetieren. Biol Unters 5:1-9
92. Rio C, Rieff HI, Qi P, Corfas G (1997) Neuregulin and erbB receptors play a critical role in neuronal migration. Neuron 19:39-50
93. Roberts GW (1991) Schizophrenia:a neuropathological perspective. Br J Psychiatry 158:8-17:8-17
94. Roper SN, Abraham LA, Streit WJ (1997) Exposure to in utero irradiation produces disruption of radial glia in rats. Dev Neurosci 19:521-528
95. Rosen GD, Press DM, Sherman GF, Galaburda AM (1992) The development of induced cerebrocortical microgyria in the rat. J. Neuropathol. Exp Neurol 51:601-611
96. Rosen GD, Waters NS, Galaburda AM, Denenberg VH (1995) Behavioral consequences of neonatal injury of the neocortex. Brain Res 681:177-189
97. Schrott LM, Denenberg VH, Sherman GF, Waters NS, Rosen GD, Galaburda AM (1992) Environmental enrichment, neocortical ectopias, and behavior in the autoimmune NZB mouse. Brain Res Dev Brain Res 67:85-93
98. Spreafico R, Battaglia G, Arcelli P et al. (1998) Cortical dysplasia: an immunocytochemical study of three patients. Neurology 50:27-36
99. Sun XZ, Inouye M, Fukui Y, Hisano S, Sawada K, Muramatsu H, Muramatsu T (1997) An immunohistochemical study of radial glial cells in the mouse brain prenatally exposed to gamma-irradiation. J Neuropathol Exp Neurol 56:1339-1348
100. Super H, Soriano E, Uylings HB (1998) The functions of the preplate in development and evolution of the neocortex and hippocampus. Brain Res Brain Res Rev 27:40-64
101. Tallal P, Piercy M (1973) Defects of non-verbal auditory perception in children with developmental aphasia. Nature 241:468-469
102. Tallal P, Piercy M (1975) Developmental aphasia: the perception of brief vowels and extended stop consonants. Neuropsychologia 13:69-74
103. Tamaru M, Hirata Y, Nagayoshi M, Matsutani T (1988) Brain changes in rats induced by prenatal injection of methylazoxymethanol. Teratology 37:149-157
104. Warren N, Price DJ (1997) Roles of Pax-6 in murine diencephalic development. Development 124:1573-1582
105. Watson BU (1992) Auditory temporal acuity in normally achieving and learning-disabled college students. J Speech Hear Res 35:148-156
106. Wu JY, Henins KA, Gressens P, Gozes I, Fridkin M, Brenneman DE, Hill JM (1997) Neurobehavioral development of neonatal mice following blockade of VIP during the early embryonic period. Peptides 18:1131-1137
107. Ying Z, Babb TL, Comair YG, Bingaman W, Bushey M, Touhalisky K (1998) Induced expression of NMDAR2 proteins and differential expression of NMDAR1 splice variants in dysplastic neurons of human epileptic neocortex. J Neuropathol Exp Neurol 57:47-62
108. Zilles K, Qu M, Schleicher A, Luhmann HJ (1998) Characterization of neuronal migration disorders in neocortical structures:quantitative receptor autoradiography of ionotropic glutamate, GABA(A) and GABA(B) receptors. Eur J Neurosci 10:3095-3106