Abnormal neuronal migrationMalformationPolymicrogyriaNeuronsCerebralProgenitorForms of corticalMalformations of corticalGenesLaminationEpilepsyProliferationAbnormalitiesGeneticDifferentiationMutationsInterneuronsMorphologyApoptosisBrainstemNeurogenesisDisordersDevelopmentGyriInhibitionMidlineAbnormalityEpidemiologyKnockdownHypoplasiaReorganizationSurvivalLissencephalyPatientsHomeostasisDisorganizationRolesCellsAbsenceClinicalEarlyMechanisms
Abnormal neuronal migration2
- A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. (orpha.net)
- This reiterated the fact that there was likely cortical dysplasia (abnormal neuronal migration), and reaffirmed that we made the right choice in having surgery. (aaatobabyz.com)
Malformation4
- α2δ-1 signaling drives apoptotic cell death, anatomic reorganization, excitatory synaptogenesis, astrocytosis, and network hyperexcitability in a model of insult-induced cortical malformation known as freeze lesion (FL). (eneuro.org)
- Polymicrogyria (PMG) is a malformation of cortical development characterized by excessive small and prominent convolutions separated by shallow sulci, giving the cortical surface and cortical-white matter junction an irregular appearance ( 1 - 4 ). (ajnr.org)
- Somatic mosaicism cause Focal Cortical Dysplasias (FCD), a brain malformation manifesting with childhood drug-resistant epilepsy. (era-learn.eu)
- Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). (nih.gov)
Polymicrogyria7
- Some patients with MCPH further provide evidence of neuronal heterotopias, polymicrogyria or cortical dysplasia suggesting an associated neuronal migration defect. (nih.gov)
- Hypoxia, viral infection, and traumatic injury are the most common environmental causes of DCMs, and are associated with the subsyndromes focal polymicrogyria and focal cortical dysplasia (FCD) Type IIId, both of which have a high incidence of epilepsy. (eneuro.org)
- There are multiple DCM subsyndromes, including tuberous sclerosis, focal cortical dysplasia (FCD), and polymicrogyria. (eneuro.org)
- During the review of MR studies of multiple patients with polymicrogyria (PMG), it was noted that the patterns of cortical abnormality differed significantly among affected patients. (ajnr.org)
- Zellweger Syndrome is characterized by a cortical dysplasia similar to polymicrogyria of cerebral and cerebellar cortex, occasionally with pachygyria surrounding the Sylvian fissure, and focal/subependymal heterotopia. (dict.cc)
- The findings included micrencephaly, periventricular nodular heterotopia in occipitotemporal lobes, cortical dysgenesis resembling polymicrogyria in dorsolateral frontal lobes, hippocampal malrotation, callosal hypoplasia, superiorly rotated cerebellum with small vermis, and lumbosacral hydromyelia. (biomedcentral.com)
- These locations and the identification ofseveral familial cases raise the possibility that genetic mechanisms influence the developmentof these malformations in some patients.In the past 12 years, our knowledge about malfor- polymicrogyria have generally been consideredmations of cortical development has grown tremen- sporadic, although some familial cases have beendously. (fliphtml5.com)
Neurons11
- Histologically, cortical dysplasias contain large, abnormal neurons in all neuronal layers except the first, with a loss of cortical lamination. (healthincode.com)
- We further use comprehensive screening in transfected non-neuronal cells and shRNA-mediated knockdown in DRG neurons to identify the related enzymes ZDHHC3 and ZDHHC7 as dominant protein acyltransferases (PATs) for JAK1. (bvsalud.org)
- Unlike in non-neuronal cells, interference with RAB34 did not cause dispersal of lysosomes in neurons. (bvsalud.org)
- The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. (harvard.edu)
- FCD is characterized by cortical disorganization as the result of abnormal migration and differentiation of neurons. (era-learn.eu)
- The effect was immediate and cascaded to dramatic long-lasting impairments, thus resulting in multiple "hits" during the process of neuronal development - from the time neurons are born to the time they mature. (debuglies.com)
- Here we show that cortical deletion of Gli3 results in enlarged brain and folding structures in the cortical midline at the postnatal stage, which is mainly caused by the increased percentage of intermediate progenitors (IPs) and newborn neurons. (frontiersin.org)
- It is found in well-defined populations of NEURONS and is involved in CALCIUM SIGNALING and NEURONAL PLASTICITY. (lookformedical.com)
- A calbindin protein that is differentially expressed in distinct populations of NEURONS throughout the vertebrate and invertebrate NERVOUS SYSTEM, and modulates intrinsic neuronal excitability and influences LONG-TERM POTENTIATION. (lookformedical.com)
- Radial glial cells are characterized, besides their astroglial properties,by long radial processes extending from the ventricular zone to the pial surface, a crucial feature for the radial migration of neurons. (silverchair.com)
- Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. (nih.gov)
Cerebral5
- Cortical dysplasia is the focal presence or absence of dysplastic areas of the cerebral cortex. (healthincode.com)
- Service indicated, preferably, when generalized cortical dysplasia is evident and/or associated with additional cerebral or non-cerebral clinical signs. (healthincode.com)
- 1. Sener R. Septo-Optic Dysplasia Associated with Cerebral Cortical Dysplasia (Cortico-Septo-Optic Dysplasia). (radiopaedia.org)
- An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. (nih.gov)
- PHENOTYPE: Mice homozygous for hypomorphic mutations of this gene exhibit perinatal lethality, altered neural progenitor divisions and neuronal migration, a regionally enlarged cerebral cortex, and focal cortical dysplasias. (utsouthwestern.edu)
Progenitor2
- Knockdown of microRNA (miRNA) miR-7 can rescue abnormal brain morphology in Gli3 knockout mice by recovering progenitor specification, neuronal production and migration through a counter-balance of the Gli3 activity. (frontiersin.org)
- Experimental reduction of Foxp2 in the cortex of embryonic mice through either shRNA or overexpression of the dominant negative KE form of FoxP2 repressed the transition from radial precursor to immediate neuronal progenitor, resulting in decreased cortical neurogenesis (Tsui, Vessey, Tomita, Kaplan, & Miller, 2013). (comparative-cognition-and-behavior-reviews.org)
Forms of cortical2
- In isolated focal forms of cortical dysplasia, somatic online study should be considered if it is considered of clinical interest for the patient. (healthincode.com)
- More broadly, our results suggest that specific genetic disorders may cause distinct forms of cortical dysgenesis. (biomedcentral.com)
Malformations of cortical2
- While a routine MRI excludes ominous structural substrates that require urgent treatment, such as high-grade gliomas and arteriovenous malformations, subtle structural substrates, such as hippocampal sclerosis and malformations of cortical development (MCDs), are missed. (medscape.com)
- A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. (nih.gov)
Genes4
- Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes related to diseases, syndromic or not, that may cause cortical dysplasia. (healthincode.com)
- The aim of the present work is to review cumulative evidence regarding the participation of PI3K pathways in neuronal function, focusing on their role in neuronal metabolism and transcriptional regulation of genes involved in neuronal maintenance and plasticity or on the expression of pathological hallmarks associated with neurodegeneration. (mdpi.com)
- In Aim 1, using an in vivo genome-wide screen, we will identify genes and enhancers involved in neuronal mismigration in the mouse neocortex, giving special attention to mTOR signaling pathway components. (era-learn.eu)
- Brain morphogenesis requires precise regulation of multiple genes to control specification of distinct neural progenitors (NPs) and neuronal production. (frontiersin.org)
Lamination1
- G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. (harvard.edu)
Epilepsy4
- Cortical dysplasia is a well-known cause of intractable epilepsy, but sometimes, in focal forms limited to specific areas, it is not identified on the initial MRI unless there is a high degree of suspicion in a specific location. (healthincode.com)
- Neuronal function is the cornerstone in deciphering epilepsy and cortical developmental disorders. (neurosci.cn)
- illustrates the relationship between neurodevelopment and epileptogenesis and provides a new insight into the role of the chemokine receptor CXCR5 in neuronal development and in the pathogenesis of epilepsy. (neurosci.cn)
- We review the available evidence for the use of neurostimulation to treat pediatric epilepsy, including vagus nerve stimulation (VNS), responsive neurostimulation (RNS), deep brain stimulation (DBS), chronic subthreshold cortical stimulation (CSCS), transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS). (mdpi.com)
Proliferation3
- Early stages include impaired proliferation and migration of neuroblasts, while later stages show disordered post-migration development. (wikipedia.org)
- Loss of GPR56 does not affect cell proliferation, migration, or neurite outgrowth. (jneurosci.org)
- Consistent with this hypothesis, developing granule cells from the rostral region of Gpr56 −/− cerebella at birth exhibit a specific defect in cell adhesion to extracellular matrix (ECM) molecules of the pial basement membrane (BM) but no defects in migration, proliferation, or process outgrowth. (jneurosci.org)
Abnormalities2
- 1 , 3 ] The representative symptom of low-grade tumors, in general, is seizure and appears to be associated with an increased incidence of dual pathology, especially focal cortical dysplasia or other neuronal migration abnormalities. (surgicalneurologyint.com)
- Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (Jerber et al. (beds.ac.uk)
Genetic1
- Developmental cortical malformations (DCMs) result from pre- and perinatal insults, as well as genetic mutations. (eneuro.org)
Differentiation4
- These studies do not include spoiled gradient recalled (SPGR) or magnetization prepared rapid gradient echo (MPRAGE), T1-weighted images that enhance gray/white matter differentiation, which is crucial to the analysis of cortical architecture. (medscape.com)
- Lactate level is increased in the fetal brain from the middle stage of gestation, indicating the involvement of lactate in brain development and neuronal differentiation. (bvsalud.org)
- Here, we showed that lactate promotes the all stages of neuronal differentiation of SH-SY5Y and Neuro2A, human and mouse neuroblastoma cell lines, characterized by increased neuronal marker expression and the rates of neurites extension. (bvsalud.org)
- CENPF also has a role in orienting long, cylindrical structures called microtubules to form thin cell protrusions called cilia, which send and receive signals to trigger cell division, migration or differentiation. (wikipedia.org)
Mutations1
- Janus Kinase-1 (JAK1) plays key roles during neurodevelopment and following neuronal injury, while activatory JAK1 mutations are linked to leukemia. (bvsalud.org)
Interneurons2
- More specifically, the development of cortical GABAergic interneurons - the key neuronal class that provides inhibition in the brain - was impaired. (debuglies.com)
- Sensory ganglia may also have intrinsic interneurons and non-neuronal supporting cells. (lookformedical.com)
Morphology1
- The left side of the mouse brain with abnormal neuronal morphology is immersed in a abnormal firing environment. (neurosci.cn)
Apoptosis1
- Comprenden malformaciones debidas a alteraciones de la PROLIFERACIÓN CELULAR o APOPTOSIS neuronal (grupo I), alteraciones de la emigración neuronal (grupo II) y organización anormal de la corteza (grupo III). (bvsalud.org)
Brainstem1
- Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. (orpha.net)
Neurogenesis1
- Secretagogins are EF HAND MOTIF-containing calcium-binding proteins that are involved in early neuronal migration and neurogenesis. (lookformedical.com)
Disorders5
- Disorders in language development have also been associated with BPP, but the extent of language disorder depends on the severity of cortical damage. (wikipedia.org)
- 17.Kostovic I, Sedmak G, Vuksic M, Judas M. The relevance of human fetal subplate zone for developmental neuropathology of neuronal migration disorders and cortical dysplasia. (bvsalud.org)
- Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. (bvsalud.org)
- These include pachygyria , double cortex syndrome, and lissencephaly, all of which are classified along with CBPS as neuronal migration disorders. (dict.cc)
- Seizure Disorders A seizure is an abnormal, unregulated electrical discharge that occurs within the brain's cortical gray matter and transiently interrupts normal brain function. (msdmanuals.com)
Development4
- Now, researchers from Copenhagen have shown in mice how infections in the mother can cause the stem and precursor cells to neuronal cells in the brain to have their development impaired. (debuglies.com)
- While many factors have been hypothesised or indicated, it is important that we show the steps of neuronal development that are actually affected," says Konstantin Khodosevich, Associate Professor in the Biotech Research and Innovation Centre (BRIC). (debuglies.com)
- The mother's immune response to infection had an effect stretching from stem cells and precursor cells to neuronal cells leading to profound disruption in their development in the brain. (debuglies.com)
- It plays important roles in neuronal polarization and neurite development, cytoskeletal reorganization, cell migration, growth factor signaling, and the regulation of cell-cell interactions mediated by adherens junctions and focal adhesions. (umbc.edu)
Gyri1
- however, we performed MR imaging in several patients in whom the cortex had small, fine, and undulating gyri, very similar to the undulating cortical ribbon of PMG described by pathologists. (ajnr.org)
Inhibition1
- PIKFYVE Inhibition, A Neuronal "Emetic" for Treating ALS? (neurosci.cn)
Midline1
- In addition, dysregulation of neuronal migration also contributes to the folding defects in the cortical midline region. (frontiersin.org)
Abnormality1
- A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. (nih.gov)
Epidemiology1
- Descriptive Epidemiology of Acetabular Dysplasia: The Academic Network of Conservational Hip Outcomes Research (ANCHOR) Periacetabular Osteotomy. (utah.edu)
Knockdown1
- To test if the dynein adapter RAB-interacting lysosomal protein (RILP) mediated the recruitment of dynein to late endosomes for retrograde transport in dendrites, we obtained several knockdown reagents previously validated in non-neuronal cells. (bvsalud.org)
Hypoplasia1
- Septo-optic dysplasia (SOD) , also known as de Morsier syndrome , is a condition characterized by optic nerve hypoplasia and absence of the septum pellucidum and, in two-thirds of patients hypothalamic-pituitary dysfunction . (radiopaedia.org)
Reorganization1
- To better understand the molecular and cellular changes associated with early life insult-induced cortical network reorganization, we used the neonatal freeze-lesion (FL) model. (eneuro.org)
Survival1
- Finally, we show that JAK1 palmitoylation is important for neuropoietic cytokine-dependent signaling and neuronal survival and that combined Zdhhc3/7 loss phenocopies loss of palmitoyl-JAK1. (bvsalud.org)
Lissencephaly1
- The severity of lissencephaly ranges from a complete loss of brain folds (agyria) to a general reduction in cortical folds( pachygyria ). (dict.cc)
Patients2
- Regarding the temporal cortex, gliosis and focal cortical dysplasia were found in 7 (70%) and 2 (20%) patients. (surgicalneurologyint.com)
- and pattern 2, a bumpy cortex that appeared abnormally thick (6-8 mm) and had an irregular cortical-white matter junction in seven patients older than18 months. (ajnr.org)
Homeostasis1
- Less is known regarding its critical role in neuronal physiology, neuronal metabolism, tissue homeostasis, and the control of gene expression in the central nervous system in healthy and diseased states. (mdpi.com)
Disorganization1
- In addition to the grossly visible malformations, microscopic sections of normal-appearing brain may show disorganization of the normal laminar neuronal arrangement. (msdmanuals.com)
Roles1
- However, the roles of lactate signaling in neuronal cells remain unknown. (bvsalud.org)
Cells1
- Abnormal cells, similar to glia, are present deep in the affected cortical region and in the underlying demyelinated white matter. (healthincode.com)
Absence1
- All imaging modalities that can visualize the septum pellucidum (ultrasound, CT and MRI) will detect its absence in septo-optic dysplasia. (radiopaedia.org)
Clinical1
- Clinical presentation of septo-optic dysplasia is varied and mostly dependent on whether or not it is associated with schizencephaly (~50% of cases). (radiopaedia.org)
Early1
- PMG is believed to result from a developmental disorder or injury that occurs between 17 and 25 or 26 weeks' gestation ( 5 ), toward the end of the period of neuronal migration and the early phase of cortical organization ( 1 ). (ajnr.org)
Mechanisms1
- We will use human iPSCs-derived cortical organoids to identify the developmental mechanisms at play in FCD and provide proof-of-principle functional rescue. (era-learn.eu)