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Volumn 64, Issue 10, 2005, Pages 847-857

Genotypically defined lissencephalies show distinct pathologies

Author keywords

ARX; Cell migration; LIS1; Lissencephaly; Miller Dieker syndrome; RELN; XLIS

Indexed keywords

ADOLESCENT; ADULT; AGYRIA; ARTICLE; ARX GENE; BRAIN MALFORMATION; BRAIN STEM; CELL MIGRATION; CLINICAL ARTICLE; DCX GENE; FRONTAL CORTEX; GENE; GENE DELETION; GENE MUTATION; GENOTYPE; HETEROTOPIA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; LIS1 GENE; MILLER DIEKER SYNDROME; NEOCORTEX; NEWBORN; OCCIPITAL CORTEX; PRESCHOOL CHILD; PRIORITY JOURNAL; RELN GENE; SCHOOL CHILD;

EID: 26444434815     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.jnen.0000182978.56612.41     Document Type: Article
Times cited : (102)

References (44)
  • 1
    • 0027486966 scopus 로고
    • Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
    • Dobyns WB, Reiner O, Carrozzo R, et al. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993;270:2838-42
    • (1993) JAMA , vol.270 , pp. 2838-2842
    • Dobyns, W.B.1    Reiner, O.2    Carrozzo, R.3
  • 3
    • 0024539092 scopus 로고
    • Diagnostic criteria for Walker-Warburg syndrome
    • Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989;32:195-210
    • (1989) Am J Med Genet , vol.32 , pp. 195-210
    • Dobyns, W.B.1    Pagon, R.A.2    Armstrong, D.3
  • 4
    • 0033060614 scopus 로고    scopus 로고
    • Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly: Reply
    • Dobyns WB, Barkovich AJ. Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly: Reply. Neuropediatr 1999;30:104-6
    • (1999) Neuropediatr , vol.30 , pp. 104-106
    • Dobyns, W.B.1    Barkovich, A.J.2
  • 5
    • 0032822119 scopus 로고    scopus 로고
    • X-linked lissencephaly with absent corpus callosum and ambiguous genitalia
    • Dobyns WB, Berry-Kravis E, Havernick NJ, et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet 1999;86:331-37
    • (1999) Am J Med Genet , vol.86 , pp. 331-337
    • Dobyns, W.B.1    Berry-Kravis, E.2    Havernick, N.J.3
  • 6
    • 0031044984 scopus 로고    scopus 로고
    • Muscle-eye-brain disease: A neuropathological study
    • Haltia M, Leivo I, Somer H, et al. Muscle-eye-brain disease: A neuropathological study. Ann Neurol 1997;41:173-80
    • (1997) Ann Neurol , vol.41 , pp. 173-180
    • Haltia, M.1    Leivo, I.2    Somer, H.3
  • 7
    • 0035213853 scopus 로고    scopus 로고
    • Lissencephaly with cerebellar hypoplasia (LCH): A heterogeneous group of cortical malformations
    • Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): A heterogeneous group of cortical malformations. Neuropediatrics 2001;32:256-63
    • (2001) Neuropediatrics , vol.32 , pp. 256-263
    • Ross, M.E.1    Swanson, K.2    Dobyns, W.B.3
  • 8
    • 0037390829 scopus 로고    scopus 로고
    • Lissencephaly and the molecular basis of neuronal migration
    • Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003;12:R89-96
    • (2003) Hum Mol Genet , vol.12
    • Kato, M.1    Dobyns, W.B.2
  • 9
    • 26444455318 scopus 로고    scopus 로고
    • Lissencephaly, type II (cobblestone)
    • Golden JA, Harding BN, eds. Basel: ISN Neuropath Press
    • Golden JA. Lissencephaly, type II (cobblestone). In: Golden JA, Harding BN, eds. Developmental Neuropathology. Basel: ISN Neuropath Press, 2004:42-48
    • (2004) Developmental Neuropathology , pp. 42-48
    • Golden, J.A.1
  • 10
    • 0037385481 scopus 로고    scopus 로고
    • Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
    • Cardoso C, Leventer RJ, Ward HL, et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 2003;72:918-30
    • (2003) Am J Hum Genet , vol.72 , pp. 918-930
    • Cardoso, C.1    Leventer, R.J.2    Ward, H.L.3
  • 11
    • 0028023599 scopus 로고
    • Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected] [published erratum appears in Nature 1994;370:391]
    • Hattori M, Adachi H, Tsujimoto M, et al. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected] [published erratum appears in Nature 1994;370:391]. Nature 1994;370:216-18
    • (1994) Nature , vol.370 , pp. 216-218
    • Hattori, M.1    Adachi, H.2    Tsujimoto, M.3
  • 12
    • 0027176708 scopus 로고
    • Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
    • Reiner O, Carrozzo R, Shen Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993;364:717-21
    • (1993) Nature , vol.364 , pp. 717-721
    • Reiner, O.1    Carrozzo, R.2    Shen, Y.3
  • 13
    • 17444444915 scopus 로고    scopus 로고
    • A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
    • des Portes V, Pinard JM, Billuart P, et al. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998;92:51-56
    • (1998) Cell , vol.92 , pp. 51-56
    • Des Portes, V.1    Pinard, J.M.2    Billuart, P.3
  • 14
    • 0032498306 scopus 로고    scopus 로고
    • Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
    • Gleeson JG, Allen KM, Fox JW, et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998;92:63-72
    • (1998) Cell , vol.92 , pp. 63-72
    • Gleeson, J.G.1    Allen, K.M.2    Fox, J.W.3
  • 15
    • 2942640554 scopus 로고    scopus 로고
    • Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration
    • Tanaka T, Serneo FF, Higgins C, et al. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol 2004;165:709-21
    • (2004) J Cell Biol , vol.165 , pp. 709-721
    • Tanaka, T.1    Serneo, F.F.2    Higgins, C.3
  • 16
    • 0034703283 scopus 로고    scopus 로고
    • Interaction between LIS1 and doublecortin, two lissencephaly gene products
    • Caspi M, Atlas R, Kantor A, et al. Interaction between LIS1 and doublecortin, two lissencephaly gene products. Hum Mol Genet 2000;9: 2205-13
    • (2000) Hum Mol Genet , vol.9 , pp. 2205-2213
    • Caspi, M.1    Atlas, R.2    Kantor, A.3
  • 17
    • 0033595252 scopus 로고    scopus 로고
    • Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
    • Dobyns WB, Truwit CL, Ross ME, et al. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999;53:270-77
    • (1999) Neurology , vol.53 , pp. 270-277
    • Dobyns, W.B.1    Truwit, C.L.2    Ross, M.E.3
  • 18
    • 7844223263 scopus 로고    scopus 로고
    • LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
    • Pilz DT, Matsumoto N, Minnerath S, et al. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 1998;7:2029-37
    • (1998) Hum Mol Genet , vol.7 , pp. 2029-2037
    • Pilz, D.T.1    Matsumoto, N.2    Minnerath, S.3
  • 19
    • 0342906570 scopus 로고    scopus 로고
    • Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
    • Hong SE, Shugart YY, Huang DT, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000;26:93-96
    • (2000) Nat Genet , vol.26 , pp. 93-96
    • Hong, S.E.1    Shugart, Y.Y.2    Huang, D.T.3
  • 20
    • 0036844387 scopus 로고    scopus 로고
    • Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
    • Kitamura K, Yanazawa M, Sugiyama N, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002;32: 359-69
    • (2002) Nat Genet , vol.32 , pp. 359-369
    • Kitamura, K.1    Yanazawa, M.2    Sugiyama, N.3
  • 21
    • 10744222257 scopus 로고    scopus 로고
    • Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenorype correlation
    • Kato M, Das S, Petras K, et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenorype correlation. Hum Mutat 2004;23:147-59
    • (2004) Hum Mutat , vol.23 , pp. 147-159
    • Kato, M.1    Das, S.2    Petras, K.3
  • 22
    • 0021174658 scopus 로고
    • Syndromes with lissencephaly I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly
    • Dobyns WB, Stratton RF, Greenberg F. Syndromes with lissencephaly I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet 1984;18:509-26
    • (1984) Am J Med Genet , vol.18 , pp. 509-526
    • Dobyns, W.B.1    Stratton, R.F.2    Greenberg, F.3
  • 23
    • 0017293415 scopus 로고
    • Agyria-pachygyria (lissencephaly syndrome)
    • Jellinger K, Rett A. Agyria-pachygyria (lissencephaly syndrome). Neuropadiatrie 1976;7:66-91
    • (1976) Neuropadiatrie , vol.7 , pp. 66-91
    • Jellinger, K.1    Rett, A.2
  • 24
    • 0029958724 scopus 로고    scopus 로고
    • Progenitor cell proliferation outside the ventricular and subventricular zones during human brain development
    • Kendler A, Golden J. Progenitor cell proliferation outside the ventricular and subventricular zones during human brain development. J Neuropathol Exp Neurol 1996;55:1253-58
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 1253-1258
    • Kendler, A.1    Golden, J.2
  • 25
    • 0031040866 scopus 로고    scopus 로고
    • Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
    • Lo Nigro C, Chong SS, Smith ACM, et al. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Molec Genet 1997;6:157-64
    • (1997) Hum Molec Genet , vol.6 , pp. 157-164
    • Lo Nigro, C.1    Chong, S.S.2    Smith, A.C.M.3
  • 26
    • 0344423821 scopus 로고    scopus 로고
    • Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
    • Pilz DT, Kuc J, Matsumoto N, et al. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet 1999;8:1757-60
    • (1999) Hum Mol Genet , vol.8 , pp. 1757-1760
    • Pilz, D.T.1    Kuc, J.2    Matsumoto, N.3
  • 27
    • 0034642292 scopus 로고    scopus 로고
    • The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
    • Cardoso C, Leventer RJ, Matsumoto N, et al. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 2000;9:3019-28
    • (2000) Hum Mol Genet , vol.9 , pp. 3019-3028
    • Cardoso, C.1    Leventer, R.J.2    Matsumoto, N.3
  • 28
    • 0033452445 scopus 로고    scopus 로고
    • Familial lissencephaly with cleft palate and severe cerebellar hypoplasia
    • Kerner B, Graham JM Jr, Golden JA, et al. Familial lissencephaly with cleft palate and severe cerebellar hypoplasia. Am J Med Genet 1999;87: 440-45
    • (1999) Am J Med Genet , vol.87 , pp. 440-445
    • Kerner, B.1    Graham Jr., J.M.2    Golden, J.A.3
  • 29
    • 11144354782 scopus 로고    scopus 로고
    • Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different
    • Viot G, Sonigo P, Simon I, et al. Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. Am J Med Genet 2004;126:123-28
    • (2004) Am J Med Genet , vol.126 , pp. 123-128
    • Viot, G.1    Sonigo, P.2    Simon, I.3
  • 30
    • 0022118788 scopus 로고
    • Further comments on the lissencephaly syndromes
    • Dobyns WB, Gilbert EF, Opitz JM. Further comments on the lissencephaly syndromes. Am J Med Genet 1985;22:197-211
    • (1985) Am J Med Genet , vol.22 , pp. 197-211
    • Dobyns, W.B.1    Gilbert, E.F.2    Opitz, J.M.3
  • 31
    • 0020326426 scopus 로고
    • 3H]thymidine autoradiography
    • 3H]thymidine autoradiography. Dev Brain Res 1982;4:293-302
    • (1982) Dev Brain Res , vol.4 , pp. 293-302
    • Caviness, V.1
  • 32
    • 0034932938 scopus 로고    scopus 로고
    • Role of the reelin signaling pathway in central nervous system development
    • Rice DS, Curran T. Role of the reelin signaling pathway in central nervous system development. Annu Rev Neurosci 2001;24:1005-39
    • (2001) Annu Rev Neurosci , vol.24 , pp. 1005-1039
    • Rice, D.S.1    Curran, T.2
  • 33
    • 0029072773 scopus 로고
    • Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation
    • Ramer JC, Lin AE, Dobyns WB, et al. Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet 1995;57:403-9
    • (1995) Am J Med Genet , vol.57 , pp. 403-409
    • Ramer, J.C.1    Lin, A.E.2    Dobyns, W.B.3
  • 34
    • 0344033815 scopus 로고    scopus 로고
    • Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
    • Sicca F, Kelemen A, Genton P, et al. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology 2003;61:1042-46
    • (2003) Neurology , vol.61 , pp. 1042-1046
    • Sicca, F.1    Kelemen, A.2    Genton, P.3
  • 35
    • 0032831013 scopus 로고    scopus 로고
    • Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome?
    • Kato M, Takizawa N, Yamada S, et al. Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome? Ann Neurol 1999;46:660-63
    • (1999) Ann Neurol , vol.46 , pp. 660-663
    • Kato, M.1    Takizawa, N.2    Yamada, S.3
  • 37
    • 0030959134 scopus 로고    scopus 로고
    • Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: A new syndrome?
    • Farah S, Sabry MA, Khuraibet A, et al. Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: A new syndrome? Clin Genet 1997;51:326-30
    • (1997) Clin Genet , vol.51 , pp. 326-330
    • Farah, S.1    Sabry, M.A.2    Khuraibet, A.3
  • 38
    • 0029804898 scopus 로고    scopus 로고
    • Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study
    • Kroon AA, Smit BJ, Barth PG, et al. Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. Neuropediatrics 1996;27:273-76
    • (1996) Neuropediatrics , vol.27 , pp. 273-276
    • Kroon, A.A.1    Smit, B.J.2    Barth, P.G.3
  • 39
    • 0027200304 scopus 로고
    • A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema
    • Hourihane JO, Bennett CP, Chaudhuri R, et al. A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 1993;24:43-46
    • (1993) Neuropediatrics , vol.24 , pp. 43-46
    • Hourihane, J.O.1    Bennett, C.P.2    Chaudhuri, R.3
  • 40
    • 0020075263 scopus 로고
    • Familial lissencephaly with extreme neopallial hypoplasia
    • Barth PG, Mullaart R, Stam FC, et al. Familial lissencephaly with extreme neopallial hypoplasia. Brain Dev 1982;4:145-51
    • (1982) Brain Dev , vol.4 , pp. 145-151
    • Barth, P.G.1    Mullaart, R.2    Stam, F.C.3
  • 41
    • 2842566053 scopus 로고    scopus 로고
    • Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: Type III lissencephaly syndrome
    • Encha Razavi F, Larroche JC, Roume J, et al. Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: Type III lissencephaly syndrome. Am J Med Genet 1996;62:16-22
    • (1996) Am J Med Genet , vol.62 , pp. 16-22
    • Encha Razavi, F.1    Larroche, J.C.2    Roume, J.3
  • 42
    • 0031948745 scopus 로고    scopus 로고
    • X-linked female band heterotopiamale lissencephaly syndrome
    • Berg MJ, Schifitto G, Powers JM, et al. X-linked female band heterotopiamale lissencephaly syndrome. Neurology 1998;50:1143-46
    • (1998) Neurology , vol.50 , pp. 1143-1146
    • Berg, M.J.1    Schifitto, G.2    Powers, J.M.3
  • 43
    • 0030921874 scopus 로고    scopus 로고
    • Predominant localization of the LIS family of gene products to Cajal-Retzius cells and ventricular neuroepithelium in the developing human cortex
    • Clark GD, Mizuguchi M, Antalffy B, et al. 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 1997;56:1044-52
    • (1997) J Neuropathol Exp Neurol , vol.56 , pp. 1044-1052
    • Clark, G.D.1    Mizuguchi, M.2    Antalffy, B.3
  • 44
    • 0036199532 scopus 로고    scopus 로고
    • X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings
    • Bonneau D, Toutain A, Laquerriere A, et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol 2002;51:340-49
    • (2002) Ann Neurol , vol.51 , pp. 340-349
    • Bonneau, D.1    Toutain, A.2    Laquerriere, A.3


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