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Disorders of Neuronal Migration

Published online by Cambridge University Press:  18 September 2015

Peter G. Barth
Peter G. Barth*
Affiliation:
Departments of Neurology and Pediatrics (Pediatric Neurology), University Hospital of Amsterdam and the Department of Neuropathology, Free University Hospital, Amsterdam, The Netherlands
*
Room G8-207, University Hospital of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
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Abstract:

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Neuronal migration constitutes one of the major processes by which the central nervous system takes shape. Detailed knowledge about this important process now exists for different brain regions in rodent and monkey models as well as in the human. In the human, distinct genetic, chromosomal and environmental causes are known that affect neuronal migration, often in a morphologically distinct pattern, but the underlying pathological mechanisms are largely unknown. This review is intended to integrate our basic knowledge of the field with the accumulated intelligence on a large number of disorders and syndromes that represent the human part of the story.

Type
Review Article
Information
Canadian Journal of Neurological Sciences , Volume 14 , Issue 1 , February 1987 , pp. 1 - 16
Copyright
Copyright © Canadian Neurological Sciences Federation 1987

References

1.Sidman, RL, Rakić, P. Neuronal migration, with special reference to developing human brain: a review. Brain Res 1973; 62: 1–35.CrossRefGoogle ScholarPubMed
2.Levitt, P, Cooper, ML, Rakić, P. Coexistence of neuronal and glial precursor cells in the cerebral ventricular zone of the fetal monkey: an ultrastructural immunoperoxidase analysis. J Neurosci 1981; 1: 27–39.CrossRefGoogle ScholarPubMed
3.Angevine, JB Jr, Sidman, RL. Autoradiographic study of cell migration during histogenesis of cerebral cortex of the mouse. Nature 1961; 192: 766–768.CrossRefGoogle ScholarPubMed
4.Berry, M, Rogers, AW. The migration of neuroblasts in the developing cerebral cortex. J Anat 1965; 99: 691–709.Google ScholarPubMed
5.Marin Padilla, M. Dual origin of the mammalian neocortex and evolution of the cortical plate. Anat Embryol 1978; 152: 109–126.CrossRefGoogle ScholarPubMed
6.Ramón, y Cajal, S. Histologie du Système Nerveux de l’Homme et des Vertébrés. Paris: Maloine. 1911; Vol 2: 847–861.Google Scholar
7.Rakić, P. Mode of cell migration to the superficial layers of fetal monkey neocortex. J Comp Neurol 1972; 145: 61–84.CrossRefGoogle Scholar
8.Levitt, P, Rakić, P. Immunoperoxidase localization of glial fibrilary acidic protein in radial glial cells and astrocytes of the developing rhesus monkey brain. J Comp Neurol 1980; 193: 417–448.CrossRefGoogle Scholar
9.Antanitus, DS, Choi, BH, Lapham, LW. The demonstration of glial fibrillary acidic protein in the cerebrum of the human fetus by indirect immunofluorescence. Brain Res 1976; 103: 613–616.CrossRefGoogle ScholarPubMed
10.Choi, BH, Lapham, LW. Radial glia in the human fetal cerebrum: a combined Golgi, immunofluorescent and electron microscopic study. Brain Res 1978; 148: 295–311.CrossRefGoogle ScholarPubMed
11.Caviness, VS Jr, Sidman, RL. Time of origin of corresponding cell classes in the cerebral cortex of normal and reeler mutant mice: an autoradiographic study. J Comp Neurol 1973; 148; 141–153.CrossRefGoogle Scholar
12.Caviness, VS Jr. Patterns of cell and fiber distribution in the neocortex of the reeler mutant mouse. J Comp Neurol 1976; 170: 435–448.CrossRefGoogle ScholarPubMed
13.Caviness, VS Jr, Pinto-Lord, MC, Evrard, P. The development of laminated patterns in the mammalian neocortex. In: Connelly, TGet al eds. Morphogenesis and pattern formation. New York: Raven Press 1981; 103–126.Google Scholar
14.Caviness, VS Jr, Frost, DO. Thalamocortical projections in the reeler mutant mouse. J Comp Neurol 1983; 219: 182–202.CrossRefGoogle ScholarPubMed
15.Terashima, T, Inoue, K, Inoue, Y, et al. Distribution and morphology of corticospinal tract neurons in reeler mouse cortex by the retrograde HRP method. J Comp Neurol 1983; 218: 314–326.CrossRefGoogle ScholarPubMed
16.Schmechel, DE, Rakić, P. A Golgi study of radial glial cells in developing monkey telencephalic morphogenesis and transformation into astrocytes. Anat Embryol 1979; 156: 115–152.CrossRefGoogle Scholar
17.Choi, BH, Kim, RC, Lapham, LW. Do radial glia give rise to both astroglial and oligodendroglial cells? Dev Brain Res 1983; 8: 119–130.CrossRefGoogle Scholar
18.Choi, BH, Kim, RC. Expression of glial fibrillary acidic protein in immature oligodendroglia. Science 1984; 223: 407–409.CrossRefGoogle ScholarPubMed
19.Choi, BG, Kim, RC. Expression of glial fibrillary acidic protein by immature oligodendroglia and its implications. J Neuroimmunology 1985; 8: 215–235.CrossRefGoogle ScholarPubMed
20.Ranke, O. Beiträge zur Kenntnis der normalen und pathologischen Hirnrindenbildung. Beitr Anat allg Pathol 1910; 47: 51–125.Google Scholar
21.Miale, IL, Sidman, RL. An autoradiographic analysis of histogenesis in the mouse cerebellum. Exp Neurol 1961; 4: 277–296.CrossRefGoogle ScholarPubMed
22.Rakić, P. Neuron-glia relationship during granule cell migration in developing cerebellar cortex. A Golgi and electronmicroscopic study in Macacus rhesus. J Comp Neurol 1971; 141: 283–312.CrossRefGoogle ScholarPubMed
23.Choi, BH, Lapham, LW. Evolution of Bergmann glia in developing human fetal cerebellum: A Golgi, electronmiscroscopic and immunofluorescent study. Brain Res 1980; 190: 369–383.CrossRefGoogle Scholar
24.Essick, CR. The corpus ponto-bulbare, a hitherto undescribed nuclearmass in the human hind brain. Am J Anat 1907; 7: 119–135.CrossRefGoogle Scholar
25.Essick, CR. The development of the nuclei pontis and the nucleus arcuatus in man. Am J Anat 1912; 13: 25–54.CrossRefGoogle Scholar
26.Taber Pierce, E. Histogenesis of the nuclei griseum pontis, corporis pontobulbaris and reticularis tegmenti pontis (Bechterew) in the mouse. J Comp Neurol 1966; 126: 219–240.CrossRefGoogle Scholar
27.Ellenberger, CJ, Hanaway, J, Netsky, MG. Embryogenesis of the inferior olivary nucleus in the rat: a radioautographic study and a re-evaluation of the rhombic lip. J Comp Neurol 1969; 137: 71–88.CrossRefGoogle Scholar
28.Rakić, P. Sidman, RL. Weaver mutant mouse cerebellum: defective neuronal migration secondary to abnormality of Bergmann glia. Proc Nat Acad Sci USA 1973; 70: 240–244.CrossRefGoogle ScholarPubMed
29.Goldowitz, D, Muller, RJ. Granule cell as a site of gene action in the weaver mouse cerebellum: evidence from heterozygous mutant chimeras. J Neurosci 1982; 2: 1474–1485.CrossRefGoogle ScholarPubMed
30.Hatten, ME, Liem, RKH, Mason, CA. Defects in specific associations between astroglia and neurons occur in microcultures of weaver mouse cerebellar cells. J Neurosci 1984; 4: 1163–1172.CrossRefGoogle ScholarPubMed
31.Hatten, ME, Mason, CA. Neuron-astroglia interaction in vitro and in vivo. TINS 1986; 168–172.Google Scholar
32.Edelman, GM. Modulation of cell adhesion during induction, histogenesis, and perinatal development of the nervous system. Ann Rev Neurosci 1984; 7: 339–377.CrossRefGoogle ScholarPubMed
33.Porter, R, Whelan, J, eds. Basement membranes and cell movement. Ciba Foundation Symposium 108. London: Pitman 1984.Google Scholar
34.Goodman, CS, Bastiani, MJ, Doe, CQ, et al. Cell recognition during neuronal development. Science 1984; 225: 1271–1279.CrossRefGoogle ScholarPubMed
35.Kotrla, KJ, Goodman, CS. Transient expression of a surface antigen on a small subset of neurons during embryonic development. Nature 1984; 311: 151–153.CrossRefGoogle ScholarPubMed
36.Taghart, PH, Doe, CQ, Goodman, CS. Cell determination and regulation during development of neuroblasts and neurones in grasshopper embryo. Nature 1984; 307: 163–165.CrossRefGoogle Scholar
37.Pegg, AE, McCann, PP. Polyamine metabolism and function. Am J Physiol 1982; 243: C212–221.CrossRefGoogle ScholarPubMed
38.Bartolomé, JV, Schweitzer, L, Slotkin, TA, et al. Impaired development of cerebellar cortex in rats treated postnatally with -difluoromethylornithine. lnt J Dev Neuroscience (in press).Google Scholar
39.Kelley, RI, Datta, NS, Dobyns, WB, et al. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 1986; 23: 869–901.CrossRefGoogle ScholarPubMed
40.Lehnert, W, Wendel, U, Lindenmaier, S, et al. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical and biochemical findings. Eur J Pediatr 1982; 139: 56–59.CrossRefGoogle ScholarPubMed
41.Böhm, N, Uy, J, Kiessling, M. et al. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers .II. Morphology and pathogenesis. EurJ Pediatr 1982; 139: 60–65.CrossRefGoogle ScholarPubMed
42.Schoenle, EJ, Haselbacher, GK, Briner, J, et al. Elevated concentration of IGF II in brain tissue from an infant with macrencephaly. J Pediatr 1986; 108: 737–740.CrossRefGoogle ScholarPubMed
43.Stewart, RM, Richman, DP, Caviness, VS Jr. Lissencephaly and pachygyria. An architectonic and topographical analysis. Acta Neuropathol 1975; 31: 1–12.CrossRefGoogle ScholarPubMed
44.Jellinger, K, Rett, A. Agyria — pachygyria (lissencephaly syndrome). Neuropädiatrie 1976; 7: 66–90.CrossRefGoogle ScholarPubMed
45.Caviness, VS Jr, Williams, RS. Cellular pathology of developing human cortex. In: Katzman, R, ed. Congenital and acquired cognitive disorders. New York: Raven Press 1979; 69–89.Google Scholar
46.Roessman, U, Hori, A. Agyria (lissencephaly) with anomalous pyramidal crossing. Case report and review of the literature. J Neurol Sci 1985; 69: 357–364.CrossRefGoogle Scholar
47.Jones, KL, Gilbert, F, Kaveggia, EG, et al. The Miller-Dieker syndrome. Pediatrics 1980; 66: 277–281.CrossRefGoogle ScholarPubMed
48.Miller, JQ. Lissencephaly in 2 siblings. Neurology 1963; 13: 841–850.CrossRefGoogle ScholarPubMed
49.Dieker, H, Edwards, RH, Zu Rhein, , et al. The lissencephaly syndrome. Birth defects: Original article series 1969; 5(2): 53–64.Google Scholar
50.Dobyns, WB, Stratton, RF, Parke, J, et al. Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr 1983; 102: 552–558.CrossRefGoogle ScholarPubMed
51.Stratton, RF, Dobyns, WB, Airhart, SD, et al. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p 13. Hum Genet 1984; 67: 193–200.CrossRefGoogle Scholar
52.Garcia, CA, Dunn, D, Trevor, R. The lissencephaly (agyria) syndrome in siblings. Computerized tomographic and neuropathologic findings. Arch Neurol 1978; 35: 608–611.CrossRefGoogle ScholarPubMed
53.Norman, MG, Roberts, M, Sirois, J, et al. Lissencephaly. Can J Neurol Sci 1976; 3: 39–46.CrossRefGoogle ScholarPubMed
54.Dobyns, WB, Stratton, FR, Greenberg, F. Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet 1984; 18: 509–526.CrossRefGoogle ScholarPubMed
55.Dobyns, WB, McCluggage, CW. Computed tomographic appearance of lissencephaly syndromes. Am J Neurorad 1985; 6: 545–550.Google ScholarPubMed
56.Walker, AE. Lissencephaly. Arch Neurol Psychiat 1942; 48: 12–29.CrossRefGoogle Scholar
57.Pagon, RA, Chandler, JW, Collie, WR, et al. Hydrocephalus, agyria, retinal dysplasia, encephalocoele (HARD ± Esyndrome): An autosomal recessive condition. Birth defects: Original article series 1978; 14(6B): 233–241.Google Scholar
58.Pagon, RA, Clarren, SK, Milam, DT Jr, et al. Autosomal recessive eye and brain anomalies: Warburg syndrome. J Pediatr 1983; 102: 542–546.CrossRefGoogle ScholarPubMed
59.Warburg, M. The heterogeneity of microphthalmia in the mentally retarded. Birth defects; Original article series 1971; 7(3): 136–154.Google ScholarPubMed
60.Warburg, M. Heterogeneity of congenital retinal non-attachment, falciform fold and retinal dysplasia. Hum Hered 1976; 26: 137–148.CrossRefGoogle Scholar
61.Pagon, RA, Clarren, SK. HARD ± E: Warburg’s syndrome. Arch Neurol 1981; 38: 66.CrossRefGoogle Scholar
62.Williams, RS, Swisher, Cn, Jennings, M, et al. Cerebro-ocular dysgenesis (Walker-Warburg syndrome): Neuropathologic and etiologic analysis. Neurology 1984; 34: 1531–1541.CrossRefGoogle ScholarPubMed
63.Chemke, J, Czernobilsky, B, Mundel, G. etal. A familial syndrome of central nervous system and ocular malformations. Clin Genet 1975; 7: 1–7.CrossRefGoogle ScholarPubMed
64.Chan, CC, Egbert, PR, Herrick, MK, et al. Oculocerebral malformations. A reappraisal of Walker’s “Lissencephaly”. Arch Neurol 1980; 37: 104–108.CrossRefGoogle ScholarPubMed
65.Whitley, CB, Thompson, ThR, Mastri, AR, et al. Warburg syndrome: lethal neurodysplasia with autosomal recessive inheritance. J Pediatr 1983; 102: 547–551.CrossRefGoogle ScholarPubMed
66.Bordarier, C, Aicardi, J, Goutières, F. Congenital hydrocephalus and eye abnormalities with severe developmental brain defects: Warburg’s syndrome. Ann Neurol 1984; 16: 60–65.CrossRefGoogle ScholarPubMed
67.Nonaka, I, Chou, SM. Congenital muscular dystrophy. Vinken, PJ, Bruyn, GW eds. Handbook of Clinical Neurology vol. 41. Diseases of Muscle Part II. Amsterdam: North Holland Publ Co 1979; 27–50.Google Scholar
68.Fukuyama, Y, Ohsawa, M. A genetic study of the Fukuyama type of congenital muscular dystrophy. Brain Develop (Tokyo) 1984; 6: 373–390.CrossRefGoogle ScholarPubMed
69.Fukuyama, Y, Ohsawa, M, Suzuki, H. Congenital progressive muscular dystrophy of the Fukuyama type-Clinical, Genetic and Pathological considerations. Brain Develop (Tokyo) 1981; 3: 1–29.CrossRefGoogle ScholarPubMed
70.Kamoshita, S, Konishi, Y. Segawa, M, et al. Congenital muscular dystrophy as a disease of the central nervous system. Arch Neurol 1976; 33: 513–516.CrossRefGoogle ScholarPubMed
71.Murakami, T, Konishi, Y, Takamiya, M, et al. Congenital muscular dystrophy associated with micropolygyria — report of two cases. Acta Pathol Jap 1975; 25: 599–612.Google ScholarPubMed
72.Takada, K, Nakamura, H, Tanaka, J. Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type). J Neuropathol Exp Neurol 1984; 43: 395–407.CrossRefGoogle ScholarPubMed
73.Dobyns, WB, Kirkpatrick, JB, Hittner, HM, et al. Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet 1985; 22: 157–195.CrossRefGoogle Scholar
74.Krijgsman, JB, Barth, PG, Stam, FC, et al. Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family. Neuropädiatrie 1980; 11: 108–120.CrossRefGoogle Scholar
75.Dambska, M, Wisniewski, K, Sher, J, et al. Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebromuscular dystrophy. Clin Neuropathol 1982; 1: 93–98.Google ScholarPubMed
76.Towfighi, J, Sassani, JW, Suzuki, K, et al. Cerebro-ocular dysplasia — muscular dystrophy (COD-MD) syndrome. Acta Neuropathol 1984; 65: 110–123.CrossRefGoogle ScholarPubMed
77.Yoshioka, M, Okuno, T, Ito, M, et al. Congenital muscular dystrophy (Fukuyama type). Repeated CT studies in 19 children. Comp Tomogr 1981; 5: 81–88.CrossRefGoogle Scholar
78.Lazjuk, GI, Lurie, IW, Ostrowskaja, TI, et al. The Neu-Laxova syndrome — A distinct entity. Am J Med Genet 1979; 3: 261–267.CrossRefGoogle ScholarPubMed
79.Barth, PG, Mullaart, R, Stam, FC, et al. Familial lissencephaly with extreme neopallial hypoplasia. Brain Develop(Tokyo) 1982: 4: 145–151.CrossRefGoogle ScholarPubMed
80.Sarnat, HB, Rybak, G, Kotagal, S, et al. Cerebral embryopathy in late first trimester: possible association with swine influenza vaccine. Teratology 1979; 20: 93–100.CrossRefGoogle ScholarPubMed
81.Dobyns, WB. Further comments on the lissencephaly syndromes (letter). Am J Med Genet 1985; 22: 197–211.CrossRefGoogle Scholar
82.Dobyns, WB. Developmental aspects of lissencephaly and the lissencephaly syndromes. Birth defects (in press).Google Scholar
83.Bielschowsky, M. Ueber Mikrogyrie. J Psychol Neurol (Lpz) 1915; 22: 1–47.Google Scholar
84.Norman, RM, Urich, H, Woods, GE. The relationship between prenatal porencephaly and the encephalomacias of early life. J Ment Sci 1958; 104: 758–771.CrossRefGoogle ScholarPubMed
85.Dekaban, A. Large defects in cerebral hemispheres associated with cortical dysgenesis. J Neuropathol Exp Neurol 1965; 24: 512–530.CrossRefGoogle Scholar
86.Levine, DN, Fisher ma, , Caviness, VS Jr. Porencephaly with microgyria: A pathologic study. Acta Neuropathol 1974; 29: 99–113.CrossRefGoogle ScholarPubMed
87.Williams, RS, Caviness, VS Jr. The cellular pathology of microgyria. A Golgi analysis. Acta Neuropathol 1976; 36: 269–283.CrossRefGoogle ScholarPubMed
88.Dvořák, K, Feit, J. Migration of neuroblasts through partial necrosis of the cerebral cortex in newborn rats. Contribution to the problems of morphological development and developmental period of cerebral microgyria. Acta Neuropathol (Berl) 1977; 38: 203–212.Google Scholar
89.Dvořák, K, Feit, J, Juránková, Z. Experimentally induced focal microgyria and status verrucosis deformis in rats — pathogenesis and interrelation, histological and autoradiographical study. Acta Neuropathol 1978; 44: 121–129.CrossRefGoogle Scholar
90.Hallervorden, J. Ueber eine Kohlenoxydvergiftung im Fetalleben mit Entwicklungsstörung der Hirnrinde. Allg Z Psychiatr 1949; 124: 289–298.Google Scholar
91.Bankl, J, Jellinger, K. Zentralnervöse Schäden nach fetaler Kohlenoxidvergiftung. Beitr path Anat 1967; 135: 350–376.Google Scholar
92.Barth, PG, van der Harten, JJ. Parabiotic twin syndrome with topical isocortical disruption and gastroschisis. Acta Neuropathol 1985; 67: 345–349.CrossRefGoogle ScholarPubMed
93.Norman, MG. Bilateral encephaloclastic lesions in a 26 week gestation fetus: effect on neuroblast migration. Can J Neurol Sci 1980; 7: 191–194.CrossRefGoogle Scholar
94.Friede, RL, Mikolasek, J. Postencephalitic porencephaly, hydranencephalyorpolymicrogyria. A Review. Acta Neuropathol 1978: 43: 161–168.CrossRefGoogle ScholarPubMed
95.Marques Dias, MJ, Harmant-van Rijckevorsel, G, Landrieu, , et al. Prenatal cytomegalovirus disease and cerebral microgyria: evidence for perfusion failure, not disturbance of histogenesis, as the major cause of fetal cytomegalovirus encephalopathy. Neuropediatrics 1984; 15: 18–24.CrossRefGoogle Scholar
96.Galaburda, AM, Kemper, ThL. Cytoarchitectonic abnormalities in developmental dyslexia: a case study. Ann Neurol 1979; 6: 94–100.CrossRefGoogle ScholarPubMed
97.Hori, A, Orthner, H, Kohlschütter, A, et al. CNS dysplasia in dysencephalia splanchnocystica (Gruber’s syndrome). Acta Neuropathol 1980; 51: 93–97.CrossRefGoogle ScholarPubMed
98.Paetou, A, Salonen, R, Haltia, M. Brain pathology in the Meckel syndrome: a study of 59 cases. Clin Neuropathol 1985; 4: 56–62.Google Scholar
99.Goutières, F, Aicardi, J, Farkas-Bargeton, E. Une malformation cérébrale particulière associèe au nanisme thanatophore. Rev Neurol 1971; 125: 435–440.Google Scholar
100.Wongmongkolrit, Th, Bush, M, Roessmann, U. Neuropathological findings in thanatophoric dysplasia. Arch Pathol Lab Med 1983; 107: 132–135.Google ScholarPubMed
101.Hori, A, Friede, RL, Fischer, G. Ventricular diverticles with localized dysgenesis of the temporal lobe in cloverleaf skull anomaly. Acta Neuropathol 1983; 60: 132–136.CrossRefGoogle Scholar
102.Ho, K-L, Chang, C-H, Yang, SS, et al. Neuropathologic findings in thanatophoric dysplasi. Acta Neuropathol 1984; 63: 218–228.CrossRefGoogle Scholar
103.Shigematsu, H, Takashima, S, Otani, K, et al. Neuropathological and Golgi study on a case of thanatophoric dysplasia. Brain Develop (Tokyo) 1985; 17: 628–632.CrossRefGoogle Scholar
104.O’Doherty, N. Bloch-Sulzberger syndrome. Incontinentiapigmenti. In: Vinkin, PJ, Bruyn, GW eds. Handbook of Clinical Neurology vol. 4. Amsterdam, New York, Oxford: North Holland Publ 1972: 213–222.Google Scholar
105.Opitz, JM, ZuRhein, GM, Vitale, L, et al. The Zellweger syndrome (Cerebro-hepato-renal syndrome). Birth Defects 1969; 5: 144–158.Google Scholar
106.Volpe, JJ, Adams, RD. Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol 1972; 20: 175–198.CrossRefGoogle ScholarPubMed
107.De Lcéon, GA, Grover, WD, Huff, DS, et al. Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepatorenal syndrome of Zellweger. Ann Neurol 1977; 2: 473–484.CrossRefGoogle Scholar
108.Evrard, P, Caviness, VS Jr, Prats-Vinas, J, et al. The mechanism of arrest of neuronal migration in the Zellweger malformation: an hypothesis based upon cytoarchitectonic analysis. Acta Neuropathol (Berl) 1978; 41: 109–117.CrossRefGoogle Scholar
109.Agamanolis, DP, Robinson, HB Jr, Timmons, GD. Cerebro-hepatorenal syndrome. Report of a case with histochemical and ultrastructural observations. J Neuropathol Exp Neurol 1976; 35: 220–246.CrossRefGoogle Scholar
110.Brun, A, Gilboa, M, Meeuswisse, GW, et al. The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of Pneumocystis carinii pneumonitis in two siblings. Eur J Pediatr 1978; 127: 229–245.CrossRefGoogle ScholarPubMed
111.Aubourg, P, Robain, O, Rocchiccioli, F, et al. The cerebro-hepatorenal syndrome: lamellar lipid profiles in adrenocortical, hepatic mesencymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma. J Neurol Sci 1985; 69: 9–25.CrossRefGoogle Scholar
112.Goldfischer, S, Moore, CL, Johnson, AA, et al. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 1973; 182: 62–64.CrossRefGoogle ScholarPubMed
113.Moser, AE, Singh, I, Brown, FR, et al. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. New Engl J Med 1984; 310: 1141–1146.CrossRefGoogle ScholarPubMed
114.Moser, HW. Peroxisomal disorders. J Pediatr 1986; 108: 89–91.CrossRefGoogle ScholarPubMed
115.Schutgens, RBH, Heymans, HSA, Wanders, RJA, et al. Peroxisomal disorders: a newly recognized group of genetic diseases. Eur J Pediatr 1986; 144: 430–444.CrossRefGoogle ScholarPubMed
116.Brown, FR, McAdams, AJ 3, Cummins, JW, et al. Cerebro-hepatorenal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. Johns Hopkins Med J 1982; 151: 344–361.Google Scholar
117.Simon, T. Über Neubildung von Gehirnsubstanz in Form von Geschwülsen an derOberfläche der Windungen. Virchow’s Arch 1873; 58: 310–316.CrossRefGoogle Scholar
118.Jacob, H. Die feinere Oberflachengestaltung der Hirnwindunge: die Himwarzenbildung und die Mikropolygyrie. Z Gesamte Neurol Psychiatrie 1940; 170: 64–68.CrossRefGoogle Scholar
119.Morel, F, Wildi, J. Dysgénésie nodulaire disséminée de I’écorce frontale. Rev Neurol 1952; 87: 251–270.Google Scholar
120.Grcevic, N, Robert, F. Verrucose dysplasia of the cerebral cortex (dysgénésie nodulaire disséminée of Morel and Wildi). J Neuropathol Exp Neurol 1961; 20: 399–411.CrossRefGoogle ScholarPubMed
121.Schulze, KD, Braak, H. Hirnwarzen.ZmikroskanatForsch(Leipz) 1978; 92: 609–623.Google Scholar
122.Larroche, J-CI. Malformations of the CNS. In: Larroche, J-Cl . Developmental Pathology of the Neonate. Amsterdam, London, New York: Excerpta Medica. 1977: 496–498.Google Scholar
123.Robain, O, Lyon, G. Les micrencéphalies familiaires par malformation cérébrale. Acta Neuropathol 1972; 20: 96–109.CrossRefGoogle Scholar
124.Robain, O, Deonna, T. Pachygria and congenital nephrosis, disorder of migration and neuronal orientation. Acta Neuropathol 1983; 60: 137–141.CrossRefGoogle Scholar
125.Sievers, J, Mangold, M, Berry, C, et al. Experimental studies on cerebellar foliation. I. A qualitative morphological analysis of cerebellar fissuration defects after neonatal treatment with 6-OHDA in the rat. J Comp Neurol 1981; 203: 751–769.CrossRefGoogle Scholar
126.Del1a Giustina, E, Goffinet, AM, Landrieu, P, et al. A Golgi study of the brain malformation in Zellweger’s cerebro-hepato-renal disease. Acta Neuropathol 1981; 55: 23–28.CrossRefGoogle ScholarPubMed
127.Barth, PG, Uylings, HBM, Stam, FC. Interhemispheral neuroepithelial (glio-ependymal) cysts, associated with agenesis of the corpus callosum and neocortical maldevelopment. Child’s Brain 1984; 11: 312–319.Google ScholarPubMed
128.Heschl, R. Gehirndefekt und Hydrocephalus. Viertel jahrschrift f d praktishe Heilk 1859; 61: 59–74.Google Scholar
129.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: 116–130.CrossRefGoogle Scholar
130.Feld, M, Gruner, J. Sur deux cas de porencéphalie hémisphérique malformative associée à une agénésie septale. La Presse Médicale 1957; 65: 329–332.Google Scholar
131.Yakovlev, PI, Wadsworth, RC. Schizencephalies. A study of the congenital clefts in the cerebral mantle. II. Clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol 1946; 5: 169–206.CrossRefGoogle Scholar
132.Barth, PG. Prenatal clastic encephalopathies. Clin Neurol Neurosurg 1984; 86: 65–75.CrossRefGoogle ScholarPubMed
133.Aicardi, J, Goetières, F. The sydrome of absence of the septum pellucidum with porencephalies and other developmental defects. Neuropediatrics 1981; 12: 319–329.CrossRefGoogle Scholar
134.Friede, RL. Dysplasias of cerebellar cortex. In: Friede, RL. Developmental Neuropathology. Wien, New York: Springer Verlag, 1975: 326–339.CrossRefGoogle Scholar
135.Hart, MN, Malamud, N, Ellis, WG . The Dandy-Walker syndrome. Neurology 1972; 22: 771–780.CrossRefGoogle ScholarPubMed
136.Joubert, M, Eisenring, J-J, Preston Robb, J, et al. Familial agenesis of the cerebellar vermis. A syndrome of hyperpnea, abnormal eye movements, ataxia and retardation.Google Scholar
137.Boltshauser, E, Isler, W. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.Google Scholar
138.Friede, RL, Boltshauser, E. Uncommon syndromes of cerebellar vermis aplasia. I. Joubert syndrome. Dev Med Child Neurol 1978; 20: 758–763.CrossRefGoogle ScholarPubMed
139.Harmant-van Rijckevorsel, G, Aubert-Tulkens, G, Moulin, D, et al. Le syndrome de Joubert. Étude clinique et anatomo-pathologique. Rev Neurol 1983; 139: 715–724.Google Scholar
140.Hanaway, J, Netsky, MG. Heterotopias of the inferior olive: relation to Dandy-Walker malformation and correlation with experimental data. J Neuropathol Exp Neurol 1971; 3: 380–389.CrossRefGoogle Scholar
141.Caviness, VS Jr, vrard, P. Occipital encephalocoele. A pathologic and anatomic analysis. Acta Neuropathol 1975; 32: 245–255.CrossRefGoogle ScholarPubMed
142.Jellinger, K, Gross, H, Kaltenbäck, LE, et al. Holoprosencephaly and agenesis of the corpus callosum: frequency of associated malformations. Acta Neuropathol 1981; 55: 1–10.CrossRefGoogle ScholarPubMed
143.Parrish, ML, Roessmann, U, Levinsohn, MW. Agenesis of the corpus callosum: a study of the frequency of associated malformations. Ann Neurol 1979; 6: 349–354.CrossRefGoogle ScholarPubMed
144.Chevrie, J-J, Aicardi, J. The Aicardi syndrome. In: Pedley, TA, Meldrum, BS eds. Recent advances in epilepsy vol 3. New York, Edinburgh, London, Melbourne: Churchill Livingstone, 1986: 189–210.Google Scholar
145.Brihaye, J, Gillet, P, Parmentier, R, et al. Agénésie de la commissure associé à un kyste épendymaire. Schweizer Arch Neurol Psychiat 1956; 77: 415–431.Google Scholar
146.Friede, RL, Yasargil, MG. Supratentorial intracerebral epithelial (ependymal) cysts: review, case reports, and fine structure. J Neurol Neurosurg Psychiat 1977; 40: 127–137.CrossRefGoogle ScholarPubMed
147.Co-Te, P, Dolman, CL, Tischler, B, et al. Oral-facial-digital syndrome. A case with necropsy findings. Am J Dis Child 1970; 119: 280–283.CrossRefGoogle ScholarPubMed
148.Hicks, SP. Developmental malformations produced by radiation. A time table of their development. Am J Roetgenol 1953; 69: 272–293.Google Scholar
149.Marin-Padilla, M. Structural organization of the cerebral cortex (motor area) in human chromosomal aberrations. A Golgi study. I. D1 (13-15) trisomy, Patau syndrome. Brain Res 1974; 66: 375–391.CrossRefGoogle Scholar
150.Marin-Padilla, M. Abnormal neuronal differentiation (functional maturation) in mental retardation. Birth Defects 1975; 11(7): 133–153.Google ScholarPubMed
151.Terplan, KL, Sandberg, AA, Aceto Jr T Structural anomalies in the cerebellum in association with trisomy. JAMA 1966; 197: 557–568.CrossRefGoogle Scholar
152.Norman, RM. Neuropathological findings in trisomies 13-15 and 17-18 with special reference to the cerebellum. Dev Med Child Neurol 1966; 8: 170–177.CrossRefGoogle ScholarPubMed
153.Terplan, KL, Lopez, EC, Robinson, HB. Histologic structural anomalies in the brain in trisomy 18 syndrome. Am J Dis Child 1970; 119: 223–235.Google ScholarPubMed
154.Passarge, E, True, CW, Sueoka, WT, et al. Malformations of the central nervous system in trisomy 18 syndrome. J Pediatr 1966; 69: 771–778.CrossRefGoogle ScholarPubMed
155.Warkany, J, Passarge, E, Smith, LB. Congenital malformations in autosomal trisomy syndromes. Am J Dis Child 1966; 112: 502–517.Google ScholarPubMed
156.Sumi, SM. Brain malformations in the trisomy 18 syndrome. Brain 1970; 93: 821–830.CrossRefGoogle ScholarPubMed
157.Gottfried, M, Lavine, L, Roessmann, U. Neuropathological findings in Wolf-Hirschhorn (4p—) syndrome. Acta Neuropathol (Berl) 1981; 55: 163–165.CrossRefGoogle ScholarPubMed
158.Citoler, P, Gropp, A, Gullotta, F. Cytogenetics and pathological observations in the (4p—) syndrome (Wolf syndrome). Beitr Pathol 1971; 143: 84–96.Google ScholarPubMed
159.Leao, JC, Bargman, GJ, Neu, RL, et al. New syndrome associated with partial deletion of short arms of chromosome no 4. JAMA 1967; 202: 132–135.CrossRefGoogle ScholarPubMed
160.Benda, CE. The child with mongolism. New York: Grune & Stratton. 1960: 78–109.Google Scholar
161.Cherstvoy, ED, Lazjuk, EI, Ostrovskaya, TJ, et al. The Smith- Lemli-Opitz syndrome. A detailed pathological study as a clue to etiological heterogeneity. Virchows Arch (Path Anat) 1904; 404: 413–425.CrossRefGoogle Scholar
162.Grummet, ML, Bale, JF Jr. Brain abnormalities in infants with Potter syndrome (oligohydramnios tetrad). Neurology 1981; 31: 1571–1573.CrossRefGoogle Scholar
163.France, NE, Crome, L, Abraham, JM. Pathological features in the De Lange syndrome. Acta Paediat Scand 1969; 58: 470–480.CrossRefGoogle ScholarPubMed
164.Tucker, CC, Finlay, SC, Tucker, ES, et al. Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies. J Med Genet 1966; 3: 145–147.CrossRefGoogle ScholarPubMed
165.Majewski, F, Lenz, W, Pfeiffer, RA, et al. Das oro-facio-digitale Syndrom. Z Kinderheilk 1972; 112: 89–112.CrossRefGoogle Scholar
166.Rosman, NP, Pearce, J. The brain in multiple neurofibromatosis (Von Recklinghausen’s disease): a suggested neuropathological basis for the associated mental defect. Brain 1967; 90: 829–837.CrossRefGoogle ScholarPubMed
167.Ferrer, I, Fabregues, I, Coll, J, et al. Tuberous sclerosis: A Golgi study of a cortical tuber. Clin Neuropathol 1984; 3: 47–51.Google ScholarPubMed
168.Ross, DL, Liwnicz, BH, Chun, RWM, et al. Hypomelanosis of Ito (incontinentia pigmenti achromians) - clinicopathologic study: Macrocephaly and grey matter heterotopias. Neurology 1982; 32: 1013–1018.CrossRefGoogle Scholar
169.Haberland, C, Perou, M. Encephalocraniocutaneous lipomatosis. Arch Neurol 1970; 22: 144–155.CrossRefGoogle ScholarPubMed
170.Choi, BH, Kudo, M. Abnormal neuronal migration and gliomatosis cerebri in epidermal nevus syndrome. Acta Neuropathol (Berl) 1981; 53: 319–325.CrossRefGoogle ScholarPubMed
171.Feld, M, Gruner, J, Heuyer, G. Hétérotopies volumineuses et malformations de l’héimisphère droit. Hydrocéphalie avec Iésions destructives de l’hemisphère gauche, seules cliniquement traduites. Rev Neurol 1955; 92: 26–35.Google Scholar
172.Bignami, A, Palladini, G, Zappella, M. Unilateral megalencephaly with nerve cell hypertrophy an anatomical and quantitative histochemical study. Brain Res 1968; 9: 103–114.CrossRefGoogle ScholarPubMed
173.Tjiam, AT, Stefanko, S, Schenk, VWD, et al. Infantile spasms associated with hemihypsarrhythmia and hemimegalencephaly. Dev Med Child Neurol 1978; 20: 779–788.CrossRefGoogle ScholarPubMed
174.Townsend, JJ, Nielsen, SL, Malamud, N. Unilateral megalencephaly: hamartoma or neoplasm? Neurology 1975; 25: 448–453.CrossRefGoogle ScholarPubMed
175.Dambska, M, Wisniewski, K, Sher, JH. An autopsy case of hemimegalencephaly. Brain Develop (Tokyo) 1984; 6: 60–64.CrossRefGoogle ScholarPubMed
176.Manz, HJ, Phillips, TM, Rowden, G, et al. Unilateral megalencephaly, cerebral cortical dysplasia, neuronal hypertrophy and heterotopia: cytomorphometric, fluorometric cytochemical and biochemical analysis. Acta Neuropathol 1979; 45: 97–103.CrossRefGoogle Scholar
177.Braun, JT, Franciosi, RA, Mastri, AR, et al. Isotretinoin dysmorphic syndrome (letter) Lancet 1984; 1: 506–507.CrossRefGoogle Scholar
178.Lammer, EJ, Chen, DT, Hoar, RM, et al. Retinoic acid embryopathy. New Engl J Med 1985; 313: 837–840.CrossRefGoogle ScholarPubMed
179.Hansen, LA, Pearl, GS. Isotretinoin teratogenicity. Case report with neuropathological findings. Acta Neuropathol 1985; 65: 335–337.CrossRefGoogle Scholar
180.Lemoine, P, Harousseau, H, Borteyru, J, et al. Les enfants de parents alcooliques: anomalies observées. Ouest Med 1968; 25: 476–482.Google Scholar
181.Jones, KL, Smith, DW. Recognition of the fetal alcohol syndrome in early infancy. Lancet 1973; 1: 999–1001.CrossRefGoogle Scholar
182.Clarren, SK, Alyord, EC Jr, Sumi, M, et al. Brain malformations related to prenatal exposure to ethanol. J Pediatr 1978; 92: 64–67.CrossRefGoogle ScholarPubMed
183.Peiffer, J, Majewski, F, Fischbach, H, et al. Alcohol embryo- and fetopathy. Neuropathology of 3 children and 3 fetuses. J Neurol Sci 1979; 41: 125–137.CrossRefGoogle ScholarPubMed
184.Wisniewski, K, Dambska, M, Sher, J, et al. A clinical neuropathological study of the fetal alcohol syndrome. Neuropediatrics 1983; 14: 197–201.CrossRefGoogle ScholarPubMed
185.Ciba foundation symposium 105. Mechanisms of alcohol damage in utero. London: Pitman 1984.Google Scholar
186.Kennedy, LA. The pathogenesis of brain abnormalities in the fetal alcohol syndrome: an integrating hypothesis. Teratology 1984; 29: 363–368.CrossRefGoogle ScholarPubMed
187.Pytkowicz Streissguth, A, Landesman-Dwyer, S, Martin, JC, et al. Teratogenic effects of alcohol in humans and laboratory animals. Science 1980; 209: 353–361.CrossRefGoogle Scholar
188.Matsumoto, H, Koya, G, Takeuchi, T. Fetal Minamata disease. A neuropathological study of two cases of intrauterine intoxication by a methylmercury compound. J Neuropathol Exp Neurol 1965; 24: 563–574.CrossRefGoogle Scholar
189.Marsh, DO, Myers, GY, Clarkson, ThW, et al. Fetal methylmercury poisoning: clinical and toxicological data on 29 cases. Ann Neurol 1980; 7: 348–353.CrossRefGoogle ScholarPubMed
190.Choi, BH, Lapham, LW, Amin Zaki, L, et al. Abnormal neuronal migration, deranged cerebral cortical organization, and diffuse white matter astrocytosis of human fetal brain: a major effect of methylmercury poisoning in utero. J Neuropathol Exp Neurol 1978; 37: 719–733.CrossRefGoogle Scholar
191.Choi, BH. Mercuri and abnormal development of the fetal brain. In: Dreosti, I, Smith, R, eds. Neurobiology of the trace elements Vol 1. Clifton, New Yearsey: The Humana Press 1983: 197–235.Google Scholar
192.Choi, BH, Cho, KH, Lapham, LW. Effects of methylmercury on human fetal neurons and astrocytes in vitro: a time-lapse cinematographic phase and electron microscope study. Environm Res 1981; 24: 61–74.CrossRefGoogle Scholar
193.Choi, BH, Cho, KH, Lapham, LW. Effects of methylmercury on DNA synthesis of human fetal astrocytes: a radioautographic study. Brain Res 1980; 202: 238–242.CrossRefGoogle ScholarPubMed
194.Cowen, D, Geller, LM. Longterm pathological effects of prenatal X-irradiation on the central nervous system of the rat. J Neuropathol Exp Neurol 1960; 19: 488–527.CrossRefGoogle ScholarPubMed
195.Ebels, EJ. Studies on ectopic granule cells in the cerebellar cortex ’ with a hypothesis as to their etiology and pathogenesis. Acta Neuropathol (Berl) 1972; 21: 117–127.CrossRefGoogle Scholar
196.Dekaban, AS. Effects of X-radiation on mouse fetus during gestation: emphasis on distribution of cerebral lesions, part II. J Nuclear Med 1969; 10: 68–77.Google ScholarPubMed
197.Miller, RW. Delayed effects occurring within the first decade after exposure of young individuals to the Hiroshima atomic bomb. Pediatrics 1956; 18: 1–17.CrossRefGoogle Scholar
198.Dekaban, AS. Abnormalities in children exposed to x-radiation during various stages of gestation: tentative timetable of radiation injury to the human fetus. Part I. J Nucl Med 1968; 9: 476–477.Google Scholar
199.Miller, RW, Blot, WJ. Small head size after in-utero exposure to atomic radiation. Lancet 1972; 2: 784–787.CrossRefGoogle ScholarPubMed
200.Miller, RW, Mulvihill, JJ. Small head size after atomic radiation. Teratology 1976; 14: 355–358.CrossRefGoogle Scholar
201.Van Bogaert, L, Radermecker, MA. Une dysgénésie céré belleuse chez un enfant du radium. Rev Neurol 1955; 93: 65–82.Google Scholar
202.Shimada, M, Abe, Y, Yamano, T, et al. The pathogenesis of abnormal cytoarchitecture in the cerebral cortex and hippocampus of the mouse treated transplacentally with cytosine arabinoside. Acta Neuropathol 1982; 58; 159–167.CrossRefGoogle ScholarPubMed
203.Ohno, M. Neuroanatomical study of somatomotor cortex in microcephalic mice induced by cytosine arabinoside. Brain Develop (Tokyo) 1984; 6: 528–538.CrossRefGoogle ScholarPubMed
204.Erdohazi, M, Barnes, ND, Robinson, MJ. et al. Cerebral malformation associated with metabolic disorder. A report of 2 cases. Acta Neuropathol 1976; 36: 315–325.CrossRefGoogle Scholar
205.Troost, D, van Rossum, A, Straks, W, et al. Menkes’ kinky hair disease. II. A clinicopathological report of three cases. Brain & Developm 1982; 4: 115–126.CrossRefGoogle Scholar
206.Fowler, M. A case of arthrogryposis multiplex congenita with lesions in the nervous system. Arch Dis Child 1959; 34: 505–520.CrossRefGoogle ScholarPubMed
207.Rosman, NP, Rebeiz, JJ. The cerebral defect and myopathy in myotonic dystrophy. A comparative clinicopathological study. Neurology 1967; 17: 1106–1112.CrossRefGoogle ScholarPubMed
208.Moerman, Ph, Barth, PG. Olivo-ponto-cerebellar atrophy with muscular atrophy, and joint contractures of prenatal onset. Virchow’s Arch A (in press).Google Scholar
209.Cupo, LN, Pyeritz, RE, Olson, JL, et al. Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias. Am J Med 1981; 71: 1051–1058.CrossRefGoogle ScholarPubMed
210.DeBassio, WA, Kemper, ThL, Knoefel, JE. Coffin-Siris syndrome. Neuropathologic findings. Arch Neurol 1985; 42: 350–353.CrossRefGoogle ScholarPubMed