Malformations of cortical developmentand their clinical repercussions in a series of 144 cases;Malformaciones del desarrollo cortical y su repercusión clínica en una serie de 144 casos

Revista de Neurologia

Volumn 37, Issue 4, 2003, Pages 327-344

  Pascual Castroviejo, I ^c   Pascual Pascual, S I ^d   Viano J ^a   Martinez V ^a   Palencia, R ^b  

^a Sanatorio Ntra Sra del Rosario   (Spain)

^b HOSPITAL CLÍNICO UNIVERSITARIO DE VALLADOLID   (Spain)

^c Centro Médico Orense   (Spain)

^d NONE

Author keywords

Cortical dysplasias; Epilepsy; Eschizencephaly; Heterotopias; Lissencephaly; Neuronal migration disorders; Polymicrogyria; Psychomotor retardation; Three dimensional magnetic resonance (3DMR)

Indexed keywords

AGYRIA; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CHILD; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; CORTICAL DYSPLASIA; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; EPILEPSY; FEMALE; HETEROTOPIA; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MICROGYRIA; MOTOR DYSFUNCTION; NEUROLOGY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; THREE DIMENSIONAL IMAGING;

EID: 0141926600     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3704.2003183     Document Type: Conference Paper

References (154)

1. Meschede F. Ueber neubildung grauer himsubstanz in den wandungen der seiten-ventrikel und über eine bisher nicht beschriebene, durch hyperplasie grauer cortical substanz bedingte struktur-anomalie der hirnrinde. Allg Z Psychiatr 1864; 21: 481-505.
2. Virchow R. Zur pathologischen anatomie des gehims. 2. Heterotopie der grauen himsubstanz. Arch Pathol Anat Psysiol 1867; 38: 138-42.
3. Pascual-Castroviejo I, Viaño J, Roche C, Martinez-Bermejo A, Martínez-Fernandez V, Arcas J, et al. Valor de la imagen en el diagnóstico de los trastornos de la migración neuronal. Rev Neurol 1998; 27: 246-58.
4. Guillén D, Pascual-Castroviejo I, López-Martín V, Roche MC, Pascual-Pascual SI, Viaño J, et al. Trastornos de la migración neuronal: correlación clinicorradiológica. Rev Neurol 1995; 23: 43-50.
5. Lagae L. Cortical malformations: a frequent cause of epilepsy in children. Eur J Pediatr 2000; 159: 555-62.
6. Kuzniecky RI, Barkovich AJ. Malformations of cortical development and epilepsy. Brain Dev 2001; 23: 2-11,
7. Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J, Martínez, V, Palencia R. Unilateral polimicrogyria: a common cause of hemiplegia of prenatal origin. Brain Dev 2001; 23: 216-22.
8. Porter BE, Brooks-Kayal A, Golden JA. Disorders of cortical development and epilepsy. Arch Neurol 2002; 59: 361-5.
9. Barkovich AJ, Gressens P, Evrard P. Formation, maturation and disorders of brain neocortex. Am J Neuroradiol 1992; 13: 423-46.
10. Barkovich AJ, Kjos BO. Gray matter heterotopias: MR characteristics and correlation with development and neurologic manifestations. Radiology 1992; 182: 493-9.
11. Barkovich AJ, Kjos BO. Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits. Am J Neuroradiol 1992; 13: 95-103.
12. Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 1995; 26: 131-47.
13. Barth PG. Disorders of neuronal migration. Can J Neurol Sci 1987; 14: 1-16.
14. Friede RL. Dysplasias of cerebral cortex. In Friede RL, ed. Developmental neuropathology. 2 ed. Berlin: Springer-Velag; 1989. p. 330-46.
15. Marín-Padilla M. Structural organization of the human cerebral cortex prior to the appearance of the cortical plate. Anat Embryol 1983; 168: 21-40.
16. Marín-Padilla M. Early ontogenesis of the human cerebral cortex. In Peter A, Jones E, eds. Cerebral cortex. Vol 7. Development and maturation of the cerebral cortex. New York: Plenum; 1988. p. 1-34.
17. Uher BF, Golden JA, Neuronal migration defects of the cerebral cortex: a destination debacle. Clin Genet 2000; 58: 16-24.
18. Samat HB. Propuesta para una clasificación genética molecular de las malformaciones del sistema nervioso. Rev Neurol 2001; 33: 68-75.
19. Samat HB. Molecular genetic classification of central nervous system malformations. J Child Neurol 2000; 15: 675-87.
20. Ramón y Cajal S. Histologie du système nerveux de l'homme et des vertébrés. Vol. 2. Paris: Malonie; 1911. p. 847-61.
21. Hattem M, Mason C. Mechanisms of glial-guided neuronal migration in vitro and in vivo. Experientia 1990; 46: 907-16.
22. Rakic P. Principles of neuronal cell migration. Experientia 1990; 46: 882-91.
23. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Classification system for malformations of cortical development. Update 2001. Neurology 2001; 57: 2168-78.
24. Carey JC, Viskochil DH. Status of the human malformation map: 2002. Am J Med Genet (Sem Med Genet) 2002; 115: 205-20.
25. Eriksson SH, Thom M, Heffernan J, Lin WR, Harding BN, Squier MV. Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria. Brain 2001; 124: 1350-61.
26. Samat HB, Flores-Sarnat L. Cajal-Retzius and subplate neurons: their role in cortical development. Eur J Paediatr Neurol 2002; 6: 91-7.
27. Meyer G, Goffinet AM, Fairén A. What is a Cajal-Retzius cell? A reassessment of a classical cell type based on recent observations in the developing neocortex. Cereb Cortex 1999; 9: 765-75.
28. Reiner O, Carrozzo R, Shen Y, Welmert M, Faustinella F, Dobyns WB, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein-subunit-like repeats. Nature 1993; 364: 717-21.
29. Barth PG. Fetal disruption as cause of neuronal migration defects. In Barth PG, ed. Disorders of neuronal migration. International Review of Child Neurology Series. London: McKeith Press; 2003. p. 182-94.
30. Cohen MM. Malformations of the craniofacial regions. Evolutionary, embryonic, genetic, and clinical perspectives. Am J Med Genet (Sem Med Genet) 2002; 115: 245-68.
31. Toda Y, Yoshioka M, Nakahora Y, Kanazawa I, Nakamura Y, Nakagome Y. Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol 1995; 37: 99-101.
32. Haltia M, Leivo I, Somer H, Pihko H, Paltau A, Kivelä T, et al. Muscle-eye-brain disease: a neuropathological study. Ann Neurol 1997; 41: 173-80.
33. Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talin B, et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 2001; 56: 1059-69.
34. Barkovich AJ, Ferriero DM, Barr RM, Gressens P, Dobyns WB, Truwit CL, et al. Microlissencephaly: A heterogeneous malformation of cortical development. Neuropediatrìcs 1998; 29: 113-9.
35. Dobyns WB, Barkovich AJ. Microcephaly with simplified gyral pattem (oligogyric microcephaly) and microlissencephaly. Reply [letter]. Neuropediatrics 1999; 30: 104-6.
36. Guerrini R, Barkovich AJ, Sztriha L, Dobyns W. Bilateral frontal polymicrogyria. Neurology 2000; 54: 909-13.
37. Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, Van Beusekom E, Van der Zwaag B, et al. Mutations in the O-mannosyl-transferase gene POMT 1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002; 71: 1033-43.
38. Tanigushi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, et al. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet 2003; 12: 527-34.
39. Pascual-Castroviejo 1, Pascual-Pascual SI, Roche C, Arcas J, Martinez-Bermejo A, López-Martin V, et al. Epilepsy in anomalies of neuronal migration and organization in a series of 114 cases. Epilepsia 1999; 40 (Suppl 2): 46.
40. Narayanan V. Apoptosis in development and disease of the nervous system: 1. Naturally occurring cell death in the developing nervous system. Pediatr Neurol 1997; 16: 9-13.
41. Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondolida E, Nomura Y, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998; 394: 388-92.
42. Toda T, Kobayashi K. Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration. J Mol Med 1999; 77: 816-23.
43. Cormand B, Avela K, Pigko H, Santavuori P, Talim B, Topaloglu H, et al. Assignment of the muscle-eye-brain disease gene to 1p32-34 by linkage analysis and homozygosity mapping. Am J Hum Genet 1999; 64: 126-35.
44. Bielschowsky M. Über mikrogyria. J Psychol Neurol 1915-1918; 22: 1-47.
45. Richman DP, Stewart RM, Caviness VS Jr. Cerebral mycrogyria in a 27-weeks fetus. An architectonic and topographic analysis. J Neuropathol Exp Neurol 1974; 33: 374-84.
46. Pascual-Castroviejo I, Viaño J, Pascual-Pascual SI, Martinez V. Facial hemangioma, agenesis of the internal carotid artery and cerebral cortex dysplasia: case report. Neuroradiology 1995; 37: 692-5.
47. Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Eward P. A classification scheme for malformations of cortical development. Neuropediatrics 1996; 27: 59-61.
48. Dobyns WB, Barkovich AJ. Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly: Reply (letter). Neuropediatrics 1999; 30: 104-6.
49. Kroon AA, Smit BJ, Barth PG, Hennekam RCM. Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. Neuropediatrics 1996; 27: 273-6.
50. Barth PG, Mulluart R, Stam FC, Slooff JL. Familial lissencephaly with extreme neopallial hypoplasia. Brain Dev 1982; 4: 145-51.
51. Kato M, Takizawa N, Yamada S, Ito A, Honma T, Hashimoto M, et al. Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome. Ann Neurol 1999; 46: 660-3.
52. Fitz CR, Harwood-Nash DC, Boldt DW. The radiographic features of unilateral megalencephaly. Neuroradiology 1978; 15: 145-8.
53. Konkol RJ, Maister BH, Wells RG, Sty JR. Hemimegalencephaly: clinical, EEG, neuroimaging and 1MP-SPECT correlation. Pediatr Neurol 1990; 6: 414-8.
54. Pillani JJ, Hessler RB, Allison JD, Park YD, Lee MR, Lavin T. Advanced MR imaging of cortical dysplasia with or without neoplasm: A report of two cases. Am J Neuroradiol 2002; 23: 1686-91.
55. Bronen RA, Vives KP, Kim JH, Fulbright RK, Spencer SS, Spencer DD. Focal cortical dysplasia of Taylor, balloon cell subtype: MR differentiation from low-grade tumors. Am J Neuroradiol 1997; 18: 1141-51.
56. Oki J, Miyamoto A, Takahashi S, Takey H. Cognitive deterioration associated with focal cortical dysplasia. Pediatr Neurol 1999; 20: 73-7.
57. Prayson RA, Estes ML, Morris HH. Coexistence of neoplasia and cortical dysplasia in patients presenting with seizures. Epilepsia 1993; 34: 609-15.
58. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein B-subunit-like repeats. Nature 1993; 364: 717-21.
59. Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K. Miller-Dieker lissencephaly gene encodes a submit of brain platelet-activating factor acetylhydrolase. Nature 1994; 370: 216-8.
60. Hirotsune S, Fleck MW, Gambello MJ, Bix GJ, Chen A, Clark GD, et al. Graded reduction of Pafah1b1 (Lis1) activity results in neur migration defects and early embryonic lethality. Nat Genet 1998; 19: 333-9.
61. Dobyns WB, Truwith CL, Ross ME, Matsumoto N, Pilz D, Ledbetter D, et al. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999; 53: 270-7.
62. Jellinger K, Rett A. Agyria-pachygyria (lissencephaly syndrome). Neuropediatrie 1976; 7: 66-91.
63. Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 1995; 26: 132-47.
64. Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH. Causal heterogeneity in isolated lissencephaly. Neurology 1992; 42: 1375-88.
65. Miller JQ. Lissencephaly in two siblings. Neurology 1963; 13: 841-50.
66. Dieker H, Edwards RH, Zu Rhein G, Chou SM, Opitz JM. The lissencephaly syndrome. Birth defects. Original Article Series 1969; 5: 53-64.
67. Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J Pediat 1983; 102: 552-8.
68. Ledbetter SA, Kwano A, Dobyns WB, Ledbetter DH. Microdeletions of chromosome 17p 13 as a cause of isolated lissencephaly. Am J Hum Genet 1992; 50: 182-9.
69. Dobyns WB, Curry CJR, Hoyme HE, Turlington L, Ledbetter DH. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet 1991; 48: 584-94.
70. Palmini A, Andermann F, Aicardi J, Dulac O, Chaves F, Ponsot G, et al. Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients. Neurology 1991; 41: 1656-62.
71. Barkovich AJ, Guerrini R, Battaglia G, Kalifa G, N'Guyen T, Parmeggiani A, et al. Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol 1994; 36: 609-17.
72. Pinard JM, Motte J, Chiron C, Brian R, Andermann F, Dulac O, et al. Subcortical laminar heterotopia and lissencephaly in 2 families: A single X-linked dominant gene. J Neurol Neurosurg Psychiatry 1994; 57: 914-20.
73. Gleeson JG, Allen KM, Fox JW, Lamperti ED, Barkovic S, Scheffer I, et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signalling protein. Cell 1998; 92: 63-72.
74. Des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrie A, et al. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998; 92: 51-61.
75. Des Portes V, Pinard JM, Smadja D, Motte J, Boespflüg-Tanguy O, Moutard ML, et al. Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/L1S): evidence for the occurrence of mutations in males and mapping of a potential locus in Xq22. J Med Genet 1997; 34: 177-83.
76. Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, et al. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol 1999; 45: 146-53.
77. Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, et al. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol 2000; 47: 265-9.
78. Dobyns WB, Gilbert EF, Opitz JM. Further comments on the lissencephaly syndromes. Am J Med Genet 1985; 22: 197-211.
79. Neu R, Rajü T, Gardner L, Nagyfy S, King S. A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics 1971; 47: 610-2.
80. Laxova R, Ohara P, Timothy JAD. A further example of a lethal autosomal recessive condition in sibs. J Ment Defic Res 1972; 16: 139-43.
81. Curry CJR. Further comments on the Neu-Laxova syndrome. Am J Med Genet 1982; 13: 441-4.
82. Ostrovskaya TI, Lazjuk GI. Cerebral abnormalities in the Neu-Laxova syndrome. Am J Med Genet 1988; 30: 747-56.
83. Rouzbahani 1. New manifestations in an infant with Neu-Laxova syndrome. Am J Med Genet 1995; 56: 539-40.
84. Attia-Sobol J, Encha-Razavi F, Hermier M, Vitrey D, Verloes A, Plauchu H. Lissencephaly tipe III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. Am J Med Genet 2001; 99: 14-20.
85. Rosen G, Sherman G, Galaburda A. Birthdates of neurons in induced microgyria. Brain Res 1996; 727: 71-8.
86. Marret SM, Gressens P, Evrard P. Arrest of neuronal migration by excitatory aminoacids in hamster developing brain. Proc Natl Acad Sci U S A 1996; 93: 15463-8.
87. Muntaner L, Pérez-Ferrón J, Herrera M, Rosell J, Taboada D, Climent S. MRI of a family with focal abnormalities of gyration. Neuroradiology 1997; 39: 605-8.
88. Oekonamakis M. Über umschriebene, mikrogyrische Verbildungen an der Grosshimoberflache und ihre Beziehung zur Porenzephalie. Arch Psychiatrie Nervenkrank 1905; 39: 676.
89. Kuzniecky R, Anderman F, Tampieri D, Melanson D, Olivier A, Leppik I. Bilateral central macrogyria: epilepsy, pseudobulbar palsy, and migration disorder. Ann Neurol 1989; 25: 547-54.
90. Guerreiro MM, Andermann F, Guenàni R, Dobyns WB, Kuzniecky R, Silver K, et al. Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol 2000; 48: 39-48.
91. Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, et al. A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet 2002; 70: 1003-8.
92. Borgatti R, Triuzli F, Zucca C, Piccinelly P, Balottin U, Carrozzo R, Guerrini R. Bilateral perisylvian polymicrogyria in three generations. Neurology 1999; 52: 1910-3.
93. Foix MC, Chany JA, Marie J. Diplégie facio-linguo-masticatrice d'origine cortico-sous-corticale sans paralysie des membres. Rev Neurol (Paris) 1926; 1: 214-9.
94. Van Bogaert P, Donner C, David P, Rodesch F, Avni EF, Szliwowski HB. Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin. Dev Med Child Neurol 1996; 38: 166-70.
95. Becker PS, Dixon AM, Troncoso JC. Bilateral opercular polymicrogyria. Ann Neurol 1989; 25: 90-2.
96. Márquez-Belandria G, Rondón-Hemández F, Pascual-Pascual SI, Pascual-Catroviejo I. Síndrome opercular bilateral congénito: presentación de tres casos. Rev Neurol 2003; 36: 938-40.
97. Kuzniecky R, Andermann F, Guerrini R, CBPS Study Group. The epileptic spectrum in the congenital bilateral perisylvian syndrome. Neurology 1994; 44: 379-85.
98. Kuzniecky R, Andermann F, Guerrini R, CBPS Study Group. Congenital bilateral pensylvian syndrome: study of 31 patients. Lancet 1993; 341: 608-12.
99. Kuzniecky R, Andermann F, CBPS Study Group. The congenital bilateral perysylvian syndrome: Imaging findings in a multicentre study. Am J Neuroradiol 1994; 15: 139-44.
100. Sztriha L, Nork M. Bilateral frontoparietal polymicrogyria and epilepsy. Pediatr Neurol 2000; 22: 240-3.
101. Barkovich AJ, Evner R, Guerrini R. Syndromes of bilateral symmetrical polymicrogyria. Am J Neuroradiol 1999; 20: 1814-21.
102. Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB. Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology 2000; 54: 909-13.
103. Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, et al. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet 2002; 70: 1028-33.
104. Straussberg R, Gross S, Amir J, Gadoth N. A new autosomal recessive syndrome of pachygyria. Clin Genet 1996; 50: 498-501.
105. Guerrini R, Dubeau F, Dulac O, Barkovich AJ, Kuzniecky R, Fett C, et al. Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol 1997; 41: 65-73.
106. Palmini A, Andermann F, Olivier A, Tampieri D, Robitaille Y, Andermann E. Focal neuronal migration disorders and intractable partial epilepsy: a study of 30 patients. Ann Neurol 1991; 30: 741-9.
107. Guerrini R, Dravet C, Raybaud C, Roger J, Bureau M, Battaglia A, et al. Epilepsy and focal gyral anomalies detected by MRI: electroclinic-morphological correlations and follow-up. Dev Med Child Neurol 1992; 34: 706-18.
108. Yakovlev PI, Wadsworth RC. Schizencephalies: a study of the congenital clefts in the cerebral mantle. I Clefts with fused lips. J Neuropathol Exp Neurol 1946; 5: 116-30.
109. Denis D, Chateil JF, Brun M, Brissaud O, Lacombe D, Fontan D, et al. Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev 2000; 22: 475-83.
110. Barkovich AJ, Kjos B. Schizencephaly: correlation of clinical findings with MR characteristic. Am J Neuroradiol 1992; 13: 85-94.
111. Granata T, Farina L, Faiella A, Cardini R, D'Incerti L, Boncinelli E, et al. Familial schizencephaly associated with EMX2 mutation. Neurology 1997; 48: 1403-6.
112. Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, et al. Germline mutations in the homeobox gene Emx2 in patients with severe schizencephaly. Nat Genet 1996; 12: 94-6.
113. Hosley MA, Abroms IF, Ragland RL. Schizencephaly: case report of familial incidence. Pediatr Neurol 1992; 8: 148-50.
114. Haverkamp F, Zerres K, Ostertun B, Emons D, Lentze MJ. Familial schizencephaly further delineation of a rare disorder. J Med Genet 1995; 32: 242-4.
115. Senol U, Karaali K, Aktekin B, Yilmaz S, Sindel T. Dizygotic twins with schizencephaly and focal cortical dysplasia. Am J Neuroradiol 2000; 21: 1520-1.
116. Norman M. Bilateral encephaloclastic lesions in a 26 week gestation fetus: Effect on neuroblast migration. Can J Neurol Sci 1980; 7: 191-4.
117. Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J, Martinez V. Unilateral somatic and intracranial hypoplasia. Neuropediatrics 1997; 28: 341-4.
118. Fukuyama Y, Haruna H, Kawazura M. A peculiar form of congenital progressive muscular dystrophy. Pediatr Univ Tokio 1960; 4: 5-8.
119. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations. Brain Dev 1981; 3: 1-29.
120. Aida N, Tamagawa K, Takada K, Yagishita A, Kobayashi N, Chicumaru K, et al. Brain MR in Fukuyama congenital muscular dystrophy. Am J Neuroradiol 1996; 17: 605-14.
121. Takada K, Nakamura H. Cerebellar polymìcrogyrìa in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases. Brain Dev 1990; 12: 774-8.
122. Aida N, Yagishita A, Takada K, Katsumata Y. Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. Am J Neuroradiol 1994; 15: 1755-9.
123. Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, et al. Localization of a gene for Fukuyama type muscular dystrophy to chromosome 9q31-33. Nat Genet 1993; 5: 283-6.
124. Toda T, Miyake M, Kobayashi K, Mizuno K, Saito K, Osawa M, et al. Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to < 100 Kb. Am J Hum Genet 1996; 59: 1313-20.
125. Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-lida E, Nomura Y. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998; 394: 388-92.
126. Silan F, Yoshiota M, Kobayashi K, Sinsek E, Tunc M, Alper M, et al. A new mutation of the fukutin gene in a non-Japanese patient. Ann Neurol 2003; 53: 392-6.
127. Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, et al. Selective deficiency of α-distroglican in Fukuyama-type congenital muscular dystrophy. Neurology 2001; 57: 115-21.
128. Santavuori P, Leisti J, Kruus S. Muscle, eye and brain disease: a new syndrome. Neuropaediatrie 1977; 8 (Suppl): 553-8.
129. Santavuori P, Somer H, Sainio K, Rapola J, Kruus S, Nikitin T, et al. Muscle-eye-brain disease (MEB). Brain Dev 1989; 11: 147-53.
130. Yoshida A, Koayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosylatransfemse, POMGnT1. Dev Cell 2001; 1: 717-24.
131. Endo T. O-mannosyl glycans in mammals. Biochim Biophys Acta 1999; 1473: 237-46.
132. Chiba A, Matsumura K, Yamada H, Inazu T, Shimizu T, Kusunoki S, et al. Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve α-dystroglycan with laminin. J Biol Chem 1997; 272: 2156-62.
133. Michele DR, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JAS, et al. Posttranslational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002; 418: 417-22.
134. Walker AR. Lissencephaly. Arch Neurol Psychiatry 1942; 48: 13-29.
135. Warburg M. Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. Am J Ophthalmol 1978; 85: 88-94.
136. Warburg M. Ocular malformations and lissencephaly. Eur J Pediatr 1987; 146: 450-2.
137. Williams RS, Swisher CN, Jennings M, Ambler M, Caviness VS Jr. Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiological analysis. Neurology 1984; 34: 1531-41.
138. Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL. Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type 11 lissencephaly. Am J Med Genet 1985; 22: 157-95.
139. Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989; 32: 195-210.
140. 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. Neuropediatrics 1995; 26: 148-55.
141. Kuzniecky R, Guilliam F, Faught E. Discordant occurrence of cerebral unilateral heterotopia and epilepsy in monozygotic twins. Epilepsia 1995; 36: 1155-7.
142. Smith AS, Weinstein MA, Quencer RM, Muroff LR, Stonesifer KJ, Li FC, et al. Association of heterotopic gray matter with seizures: MR Imaging. Work in progress. Radiology 1988; 168: 195-8.
143. Falconer J, Wada J, Martin V, Li D. PET, CT, and MR1 imaging of neuronal migration anomalies in epileptic patients. Can J Neurol Sci 1990; 17: 35-9.
144. Dubeau F, Tampieri D, Lee N, Andermann E, Carperter S, Leblanc R, et al. Periventricular and subcortical nodular heterotopia. A study of 33 patients. Brain 1995; 118: 1273-87.
145. Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, et al. Periventricular nodular heterotopia in patients with filarnin-1 gene mutations: neuroimaging findings. Pediatr Radiol 2000; 30: 748-55.
146. Cho WH, Seidenwurm D, Barkovich AJ. Adult-onset neurologic dysfunction associated with cortical malformations. Am J Neuroradiol 1999; 20: 1037-43.
147. Fox JW, Walsh CA. Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex. Am J Hum Genet 1999; 65: 19-24.
148. Fox JW, Lamperti ED, Eksioglu Y, Hong SE, Feng Y, Graham DA, et al. Mutations in filamin 1 arrest migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998; 21: 1315-25.
149. Huttenlocher PR, Taravath S, Mojtahedi S. Periventricular heterotopia and epilepsy. Neurology 1994; 44: 51-5.
150. Raymond AA, Fish DR, Stevens JM, Sisodya SM, Alsanjari N, Shorvon SD. Subependimal heterotopia: a distinct neuronal migration disorder associated with epilepsy. J Neurol Neurosurg Psychiatry 1994; 57: 1195-202.
151. Volpe JJ, Adams RD. Cerebro-hepato-renal syndrome of Zellweger. An inherited disorder of neuronal migration. Acta Neuropathol (Berl) 1972; 20: 175-98.
152. Evrard P, Caviness VSJ, Prats-Viñas J, Lyon G. The mechanism of arrest of neuronal migration in the Zellweger malformation: an hypothesis based upon cytoarchitectonic analysis. Acta Neuropathol 1978; 41: 109-17.
153. De Leon GA, Grover WD, Huff DS, Moringo-Mestre G, Punnett HH, Kistermacher ML. Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepato-renal syndrome of Zellweger. Ann Neurol 1977; 2: 473-84.
154. Barkovich AJ, Peacock W. Sublobar dysplasia: a new malformation of cortical development. Neurology 1998; 50: 1383-7.