The classification of cortical dysplasias through molecular genetics

Recent genetic insight into the mechanisms of human brain malformation have allowed one to consider a classification of these disorders by the genetic disruption. In this article an attempt is made to classify human cortical dysplasias by the known genetic disruptions or insults that lead to them. The discussion of malformation is within the context of the embryologic processes that have thought to have gone awry. Human disorders of segmentation, cell proliferation, telencephalic cleavage, differentiation, and neuronal migration are discussed. As this is a rapidly changing area, the reader is encouraged to check online databases for updates on the genetic insights that have been gained since the publication of this article.

[1]  T. Curran,et al.  Detection of the reelin breakpoint in reeler mice. , 1996, Brain research. Molecular brain research.

[2]  M. Muenke,et al.  Mutations in holoprosencephaly , 2000, Human mutation.

[3]  P I Andrews,et al.  22q11 deletion and polymicrogyria--cause or coincidence? , 2000, Clinical dysmorphology.

[4]  P. Barth,et al.  Disorders of Neuronal Migration , 1987, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[5]  I. Kanazawa,et al.  Genetic identity of Fukuyama‐type congenital muscular dystrophy and Walker‐Warburg syndrome , 1995 .

[6]  W. Dobyns,et al.  Epidermal nevus syndrome , 1991, Neurology.

[7]  R. Shuman,et al.  Midline Telencephalic Dysgenesis: Report of Three Cases , 1986, Journal of child neurology.

[8]  I. Kanazawa,et al.  Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. , 1996, American journal of human genetics.

[9]  J. Haines,et al.  Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. , 1991, American journal of human genetics.

[10]  M. Ōsawa,et al.  Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations — , 1981, Brain and Development.

[11]  M. Tekin,et al.  Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly , 2002, Human Genetics.

[12]  W J Schull,et al.  Perinatal loss and neurological abnormalities among children of the atomic bomb. Nagasaki and Hiroshima revisited, 1949 to 1989. , 1990, JAMA.

[13]  I. Kanazawa,et al.  An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy , 1998, Nature.

[14]  J. Brickman,et al.  Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders. , 2001, Development.

[15]  John Shelton,et al.  Reeler/Disabled-like Disruption of Neuronal Migration in Knockout Mice Lacking the VLDL Receptor and ApoE Receptor 2 , 1999, Cell.

[16]  R. Lemire Normal and abnormal development of the human nervous system , 1975 .

[17]  S. Shurtleff,et al.  D-type cyclin-dependent kinase activity in mammalian cells , 1994, Molecular and cellular biology.

[18]  K. Arai,et al.  Roles of cell-autonomous mechanisms for differential expression of region-specific transcription factors in neuroepithelial cells. , 1996, Development.

[19]  A. Barkovich,et al.  Schizencephaly: correlation of clinical findings with MR characteristics. , 1992, AJNR. American journal of neuroradiology.

[20]  R. Bart,et al.  Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature. , 1973, Archives of dermatology.

[21]  R. Myers,et al.  Human Homolog of patched, a Candidate Gene for the Basal Cell Nevus Syndrome , 1996, Science.

[22]  D R Fish,et al.  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. , 1995, Brain : a journal of neurology.

[23]  A. Mccormick,et al.  Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism. , 1975, American journal of diseases of children.

[24]  D. Ledbetter,et al.  Miller-Dieker syndrome: lissencephaly and monosomy 17p. , 1983, The Journal of pediatrics.

[25]  G. Eichele,et al.  Isolation of 3,4-didehydroretinoic acid, a novel morphogenetic signal in the chick wing bud , 1990, Nature.

[26]  D. Ledbetter,et al.  LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. , 1998, Human molecular genetics.

[27]  W. Demyer Megalencephaly in children , 1972, Neurology.

[28]  D. Ledbetter,et al.  Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. , 1992, American journal of human genetics.

[29]  C. Sherr G1 phase progression: Cycling on cue , 1994, Cell.

[30]  D. Norman,et al.  MR of neuronal migration anomalies. , 1987, AJR. American journal of roentgenology.

[31]  M. Seike,et al.  The reeler gene-associated antigen on cajal-retzius neurons is a crucial molecule for laminar organization of cortical neurons , 1995, Neuron.

[32]  J. Aicardi The Place of Neuronal Migration Abnormalities in Child Neurology , 1994, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[33]  D. Nyberg,et al.  Holoprosencephaly: prenatal sonographic diagnosis. , 1987, AJR. American journal of roentgenology.

[34]  D. Ledbetter,et al.  A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. , 1997, Human molecular genetics.

[35]  F. Andermann,et al.  Diffuse cortical dysplasia, or the 'double cortex' syndrome , 1991, Neurology.

[36]  M E Phelps,et al.  Hemimegalencephaly: evaluation with positron emission tomography. , 1993, Pediatric neurology.

[37]  I. Scheffer,et al.  doublecortin , a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein , 1998, Cell.

[38]  R. Sidman,et al.  Autoradiographic Study of Cell Migration during Histogenesis of Cerebral Cortex in the Mouse , 1961, Nature.

[39]  Golder N Wilson,et al.  Holoprosencephaly in infants of diabetic mothers. , 1983, The Journal of pediatrics.

[40]  L. Schwartz,et al.  Do all programmed cell deaths occur via apoptosis? , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[41]  P. Fernhoff,et al.  Retinoic acid embryopathy. , 1985, The New England journal of medicine.

[42]  E. Harlow,et al.  Identification of G1 kinase activity for cdk6, a novel cyclin D partner , 1994, Molecular and cellular biology.

[43]  G. Miller,et al.  Static encephalopathies of infancy and childhood , 1992 .

[44]  J. Brockes Reading the retinoid signals , 1990, Nature.

[45]  W. Demyer Megalencephaly: types, clinical syndromes, and management. , 1986, Pediatric neurology.

[46]  E. Brodtkorb,et al.  Epilepsy and anomalies of neuronal migration: MRI and clinical aspects , 1992, Acta neurologica Scandinavica.

[47]  R. Kuzniecky,et al.  Magnetic Resonance Imaging in Developmental Disorders of the Cerebral Cortex , 1994, Epilepsia.

[48]  L. Becker,et al.  A golgi study of the cerebral cortex in Fukuyama-type congenital muscular dystrophy, walker-type “lissencephaly,” and classical lissencephaly , 1987, Brain and Development.

[49]  M. Ross,et al.  Cell division and the nervous system: regulating the cycle from neural differentiation to death , 1996, Trends in Neurosciences.

[50]  R. A. Conlon Retinoic acid and pattern formation in vertebrates. , 1995, Trends in genetics : TIG.

[51]  N. Sharief,et al.  Miller-Dieker syndrome with ring chromosome 17. , 1991, Archives of disease in childhood.

[52]  J. Aicardi,et al.  THE SYNDROME OF ABSENCE OF THE SEPTUM PELLUCIDUM WITH PORENCEPHALIES AND OTHER DEVELOPMENTAL DEFECTS , 1981, Neuropediatrics.

[53]  D. Ledbetter,et al.  Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. , 2000, Molecular medicine today.

[54]  M. Muenke,et al.  Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly , 2002, Archives of disease in childhood.

[55]  D. Ledbetter,et al.  Differences in the gyral pattern distinguish chromosome 17–linked and X-linked lissencephaly , 1999, Neurology.

[56]  M. Rex,et al.  Transcription factors in early development of the central nervous system , 1996, Neuropathology and applied neurobiology.

[57]  Shun–ichi Kobayashi Tokyo campus rising , 1998, Nature.

[58]  M. Cohen,et al.  Mental retardation and congenital malformations of the central nervous system , 1981 .

[59]  J. Geelen,et al.  Closure of the neural tube in the cephalic region of the mouse embryo , 1977, The Anatomical record.

[60]  J. Martinez-Barbera,et al.  Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse , 1998, Nature Genetics.

[61]  S. Renowden,et al.  Unusual Magnetic Resonance and Neuropathological Findings in Hemimegalencephaly: Report of a Case Following Hemispherectomy , 1994, Developmental medicine and child neurology.

[62]  D. W. Smith,et al.  Autosomal dominant microcephaly. , 1979, The Journal of pediatrics.

[63]  J. Fratkin,et al.  Linear nevus sebaceous syndrome: megalencephaly and heterotopic gray matter. , 1991, Pediatric neurology.

[64]  P. Clarke,et al.  Developmental cell death: morphological diversity and multiple mechanisms , 2004, Anatomy and Embryology.

[65]  R. Ouvrier,et al.  Review Article: Optic Nerve Hypoplasia: A Review , 1986, Journal of child neurology.

[66]  A. Simeone,et al.  Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly , 1996, Nature Genetics.

[67]  G. Costin,et al.  Hypothalamic-pituitary function in children with optic nerve hypoplasia. , 1985, American journal of diseases of children.

[68]  M. Scott,et al.  The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog , 1996, Nature.

[69]  V. Caviness,et al.  Proliferative events in the cerebral ventricular zone , 1995, Brain and Development.

[70]  H. Vinters,et al.  Neuropathologic findings in surgically treated hemimegalencephaly: immunohistochemical, morphometric, and ultrastructural study , 2004, Acta Neuropathologica.

[71]  S. Scherer,et al.  Mutations in the human Sonic Hedgehog gene cause holoprosencephaly , 1996, Nature Genetics.

[72]  M. Münke,et al.  Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. , 1989, American journal of medical genetics.

[73]  D. Ledbetter,et al.  Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia , 2001, European Journal of Human Genetics.

[74]  T. Curran,et al.  A protein related to extracellular matrix proteins deleted in the mouse mutant reeler , 1995, Nature.

[75]  H. Jasper,et al.  AN X-LINKED SYNDROME WITH MICROCEPHALY, SEVERE MENTAL RETARDATION, SPASTICITY, EPILEPSY AND DEAFNESS , 2008 .

[76]  P. Rakić,et al.  Neuronal migration, with special reference to developing human brain: a review. , 1973, Brain research.

[77]  Y. Hayashizaki,et al.  The reeler gene encodes a protein with an EGF–like motif expressed by pioneer neurons , 1995, Nature Genetics.

[78]  D. Ledbetter,et al.  Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. , 1986, American journal of medical genetics.

[79]  D. Ledbetter,et al.  Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. , 1997, Human molecular genetics.

[80]  S. Chuang,et al.  Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. , 1990, AJNR. American journal of neuroradiology.

[81]  G. Eichele,et al.  Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid. , 1997, Developmental biology.

[82]  I. Scheffer,et al.  Genetic and neuroradiological heterogeneity of double cortex syndrome , 2000, Annals of neurology.

[83]  J. Opitz,et al.  Microcephaly: general considerations and aids to nosology. , 1990, Journal of craniofacial genetics and developmental biology.

[84]  A. Wyllie,et al.  Apoptosis: A Basic Biological Phenomenon with Wide-ranging Implications in Tissue Kinetics , 1972, British Journal of Cancer.

[85]  J. Siebert,et al.  An anatomic comparison of cebocephaly and ethmocephaly. , 1990, Teratology.

[86]  J. Smith,et al.  Hedgehog, the floor plate, and the zone of polarizing activity , 1994, Cell.

[87]  M. Cohen,et al.  Syndromes with cephaloceles. , 1982, Teratology.

[88]  A. Pardee G1 events and regulation of cell proliferation. , 1989, Science.