Radiologic classification of malformations of cortical development

Malformations of cerebral cortical development are common birth defects that can cause delayed development, epilepsy, focal neurologic deficits, and mental retardation. Rational classification of these disorders is essential for proper prognosis, genetic testing and counseling, and investigation of the underlying molecular causes. A rational approach to this classification is a framework based on whether these disorders are the result of abnormal cell proliferation or apoptosis, abnormal migration of immature neurons, or abnormal horizontal and radial orientation in the cortex. Superimposed on this framework are subclassifications that are based on to pology of the malformation, associated central nervous system (CNS) or extra-CNS malformations, and results of molecular genetic testing. Characteristics that correlate with and enforce this system of classification can be identified by modern neuroimaging studies.

[1]  A J Barkovich,et al.  Gray matter heterotopia. , 2000, Neurology.

[2]  C. Walsh,et al.  Neuronal migration disorders: from genetic diseases to developmental mechanisms , 2000, Trends in Neurosciences.

[3]  F. Bartolomei,et al.  Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment , 2000, Annals of neurology.

[4]  R. Fetter,et al.  Neuroligin Expressed in Nonneuronal Cells Triggers Presynaptic Development in Contacting Axons , 2000, Cell.

[5]  Y. Burnod,et al.  Functional MRI in double cortex: Functionality of heterotopia , 2000, Neurology.

[6]  L. Sztriha,et al.  Bilateral frontoparietal polymicrogyria and epilepsy. , 2000, Pediatric neurology.

[7]  R K Fulbright,et al.  Cerebrospinal fluid cleft with cortical dimple: MR imaging marker for focal cortical dysgenesis. , 2000, Radiology.

[8]  A J Barkovich,et al.  Bilateral frontal polymicrogyria , 2000, Neurology.

[9]  A J Barkovich,et al.  Syndromes of bilateral symmetrical polymicrogyria. , 1999, AJNR. American journal of neuroradiology.

[10]  W. Dobyns,et al.  X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. , 1999, American journal of medical genetics.

[11]  Joachim Herz,et al.  Direct Binding of Reelin to VLDL Receptor and ApoE Receptor 2 Induces Tyrosine Phosphorylation of Disabled-1 and Modulates Tau Phosphorylation , 1999, Neuron.

[12]  Mitsuhiro Kato,et al.  Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome? , 1999, Annals of neurology.

[13]  B. Harding,et al.  Neuronal migration disorders in humans and in mouse models—an overview , 1999, Epilepsy Research.

[14]  D. Ledbetter,et al.  Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. , 1999, Human molecular genetics.

[15]  A. Represa,et al.  The right neuron at the wrong place: biology of heterotopic neurons in cortical neuronal migration disorders, with special reference to associated pathologies , 1999, Cellular and Molecular Life Sciences CMLS.

[16]  T. Serafini.  Finding a Partner in a Crowd Neuronal Diversity and Synaptogenesis , 1999, Cell.

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

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

[19]  C. Walsh,et al.  Doublecortin Is a Microtubule-Associated Protein and Is Expressed Widely by Migrating Neurons , 1999, Neuron.

[20]  F Triulzi,et al.  Bilateral perisylvian polymicrogyria in three generations , 1999, Neurology.

[21]  A J Barkovich,et al.  MR imaging of tuberous sclerosis in neonates and young infants. , 1999, AJNR. American journal of neuroradiology.

[22]  W. Dobyns,et al.  Microcephaly with Simplified Gyral Pattern (Oligogyric Microcephaly) and Microlissencephaly , 1999 .

[23]  I. Scheffer,et al.  Characterization of mutations in the gene doublecortin in patients with double cortex syndrome , 1999, Annals of neurology.

[24]  C. Blakemore,et al.  Characterization of nodular neuronal heterotopia in children. , 1999, Brain : a journal of neurology.

[25]  William B Dobyns,et al.  Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia , 1998, Neuron.

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

[27]  A. Barkovich.  Neuroimaging manifestations and classification of congenital muscular dystrophies. , 1998, AJNR. American journal of neuroradiology.

[28]  W. Dobyns,et al.  Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation , 1998, Neurology.

[29]  C. Truwit,et al.  Microlissencephaly: A Heterogeneous Malformation of Cortical Development , 1998, Neuropediatrics.

[30]  D. Arnold,et al.  Neuronal metabolic dysfunction in patients with cortical developmental malformations , 1998, Neurology.

[31]  Jonathan A. Cooper,et al.  Neuronal position in the developing brain is regulated by mouse disabled-1 , 1997, Nature.

[32]  C. Truwit,et al.  Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome , 1997, Neurology.

[33]  A J Barkovich,et al.  Focal transmantle dysplasia: A specific malformation of cortical development , 1997, Neurology.

[34]  P. Rakic,et al.  Role of GGF/neuregulin signaling in interactions between migrating neurons and radial glia in the developing cerebral cortex. , 1997, Development.

[35]  G. Corfas,et al.  Neuregulin and erbB Receptors Play a Critical Role in Neuronal Migration , 1997, Neuron.

[36]  D. Spencer,et al.  Focal cortical dysplasia of Taylor, balloon cell subtype: MR differentiation from low-grade tumors. , 1997, AJNR. American journal of neuroradiology.

[37]  A. Paetau,et al.  Muscle—eye—brain disease: A neuropathological study , 1997, Annals of neurology.

[38]  R. Kuzniecky,et al.  Bilateral parasagittal parietooccipital polymicrogyria and epilepsy , 1997, Annals of neurology.

[39]  K. Mikoshiba,et al.  Reelin Is a Secreted Glycoprotein Recognized by the CR-50 Monoclonal Antibody , 1997, The Journal of Neuroscience.

[40]  C. Boesel.  Congenital Malformations of the Brain. Pathologic, Embryologic, Clinical, Radiologic and Genetic Aspects , 1996 .

[41]  A. Barkovich.  Subcortical heterotopia: a distinct clinicoradiologic entity. , 1996, AJNR. American journal of neuroradiology.

[42]  C. Zheng,et al.  CNS Gene Encoding Astrotactin, Which Supports Neuronal Migration Along Glial Fibers , 1996, Science.

[43]  F Andermann,et al.  Periventricular and subcortical nodular heterotopia. A study of 33 patients. , 1995, Brain : a journal of neurology.

[44]  A J Barkovich,et al.  Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters , 1994, Annals of neurology.

[45]  Takashi Kato,et al.  Magnetic resonance imaging and positron emission tomography of band heterotopia , 1993, Brain and Development.

[46]  R. Kuzniecky,et al.  Congenital bilateral perisylvian syndrome: study of 31 patients , 1993, The Lancet.

[47]  B. Brody,et al.  MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review. , 1992, Radiology.

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

[49]  G. Ponsot,et al.  Hemimegalencephaly: MR imaging in five children. , 1987, Radiology.

[50]  C. Milligan,et al.  Mechanisms of neuronal death during development--insights from chick motoneurons. , 2000, In vivo.

[51]  J. Golden,et al.  Familial lissencephaly with cleft palate and severe cerebellar hypoplasia. , 1999, American journal of medical genetics.

[52]  V. Narayanan.  Apoptosis in development and disease of the nervous system: 1. Naturally occurring cell death in the developing nervous system. , 1997, Pediatric neurology.