Cobblestone Lissencephaly
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. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.
Lissencephaly
A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
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Public Health Nursing
A nursing specialty concerned with promoting and protecting the health of populations, using knowledge from nursing, social, and public health sciences to develop local, regional, state, and national health policy and research. It is population-focused and community-oriented, aimed at health promotion and disease prevention through educational, diagnostic, and preventive programs.
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Dystroglycans
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Muscle Spasticity
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Encyclopedias as Topic
1-Alkyl-2-acetylglycerophosphocholine Esterase
A lipoprotein-associated PHOSPHOLIPASE A2 which modulates the action of PLATELET ACTIVATING FACTOR by hydrolyzing the SN-2 ester bond to yield the biologically inactive lyso-platelet-activating factor. It has specificity for phospholipid substrates with short-chain residues at the SN-2 position, but inactive against long-chain phospholipids. Deficiency in this enzyme is associated with many diseases including ASTHMA, and HYPERCHOLESTEROLEMIA.
Psychomotor Disorders
Nervous System Malformations
Malformations of Cortical Development
Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.
Epilepsy
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Epilepsies, Partial
Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)
Ganglioglioma
Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor degenerates into a histologically malignant form. They tend to occur in the optic nerve and white matter of the brain and spinal cord.
Neoplasms, Neuroepithelial
Cerebral Cortex
Genome-Wide Association Study
Intracranial Aneurysm
Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)
Polymorphism, Single Nucleotide
Genetic Loci
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Genetic Predisposition to Disease
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Neuronal Migration Disorders
Classical Lissencephalies and Subcortical Band Heterotopias
Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)
Spasms, Infantile
An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)
Rare Diseases
Muscle Hypertonia
Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly. (1/8)
(+info)Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. (2/8)
(+info)Midbrain-hindbrain involvement in lissencephalies. (3/8)
(+info)Neurons generated from APP/APLP1/APLP2 triple knockout embryonic stem cells behave normally in vitro and in vivo: lack of evidence for a cell autonomous role of the amyloid precursor protein in neuronal differentiation. (4/8)
(+info)GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. (5/8)
(+info)G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. (6/8)
(+info)Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. (7/8)
(+info)Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. (8/8)
(+info)
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Gene Expression Literature Detail
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
abnormal cortical marginal zone morphology Mammalian Phenotype Term (MP:0000792)
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Fukuyama congenital muscular dystrophy - Genetics Home Reference
Bilateral frontoparietal polymicrogyria - Wikipedia
Lissencephaly due to TUBA1A Mutation (Lissencephaly Type 3): Symptoms, Diagnosis and Treatment - Symptoma
Lissencephaly | Definition of Lissencephaly by Merriam-Webster
Retinal Stem Cells and Eye of Newt | DNA Science Blog
Essential roles for the FE65 amyloid precursor protein‐interacting proteins in brain development | The EMBO Journal
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative...
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Bilateral frontoparietal polymicrogyria
... which includes cobblestone lissencephaly. Cobblestone lissencephaly is typically seen in three different human congenital ... In cobblestone lissencephaly, the brain surface actually has a bumpy contour caused by the presence of collections of misplaced ... Lissencephaly ("smooth brain") is the extreme form of pachygyria. In lissencephaly, few or no sulci are seen on the cortical ... However, the presence of other abnormalities in these cobblestone lissencephaly syndromes, including ocular anomalies, ...
Fukuyama congenital muscular dystrophy
FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone lissencephaly as ...
Lissencephaly
Cobblestone lissencephaly is named after the pebbled or cobblestone appearance of the cortical surface. This uneven cortical ... Cobblestone lissencephaly shows a reduction and abnormalities in the grey matter of the cerebral cortex. Causes of ... There are anatomical symptoms that differ across the two main types of lissencephaly, Classical (Type I) and Cobble Stone (Type ... The cause of lissencephaly has been linked to both genetic and non-genetic factors. Three main types of lissencephaly have been ...
Pachygyria
Neuronal migration disorders are generally classified into three groups: lissencephaly/subcortical band heterotopia cobblestone ... most commonly disorders relating to varied degrees of lissencephaly. Lissencephaly is present in 1 of 85,470 births and the ... Most lissencephaly cases are associated with deletions of mutations of the LIS1 gene and the results are usually more severe in ... Classical lissencephaly, also known as type I or generalized agyria-pachygyria, is a severe brain malformation of a smooth ...
C0457133[DISCUI] - GTR - NCBI
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... lissencephaly, which is characterized by a four-layer cerebral cortex, cobblestone lissencephaly is characterized by glial/ ... For this reason we examined long-term potentiation in Largemyd mice, a mouse model of cobblestone lissencephaly caused by ... Cobblestone (type II) lissencephaly and mental retardation are characteristic features of a subset of congenital muscular ... The genes linked to CMD-associated cobblestone lissencephaly encode known or putative glycosyltransferases, and muscle biopsies ...
RXYLT1 Gene - GeneCards | RXLT1 Protein | RXLT1 Antibody
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. (PMID: 23217329) Vuillaumier- ... Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants ... Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants ... An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and ...
Montreal 2015
How is congenital muscular dystrophy (CMD) diagnosed prenatally?
What causes congenital muscular dystrophy (CMD) with familial junctional epidermolysis bullosa?
Quentin S[au] - PubMed - NCBI
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Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain 2012;135:469- ... GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain 2010 ... such as tubulinopathies21 and cobblestone malformations22⇓-24; these have different histologic appearances but similar MR ...
Walker-Warburg syndrome: MedlinePlus Genetics
Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg ... individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of ... the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones). ...
Lissencephaly - Wikipedia
Cobblestone lissencephaly is named after the pebbled or cobblestone appearance of the cortical surface. This uneven cortical ... Cobblestone lissencephaly shows a reduction and abnormalities in the grey matter of the cerebral cortex. Causes of ... There are anatomical symptoms that differ across the two main types of lissencephaly, Classical (Type I) and Cobble Stone (Type ... The cause of lissencephaly has been linked to both genetic and non-genetic factors. Three main types of lissencephaly have been ...
Fukuyama congenital muscular dystrophy: MedlinePlus Genetics
People with this condition have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain. ... Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama ... develops a bumpy, irregular appearance (like that of cobblestones). These changes in the structure of the brain lead to ...
SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub, Nature Communications | 10.1038...
β1 Integrins in Radial Glia But Not in Migrating Neurons Are Essential for the Formation of Cell Layers in the Cerebral Cortex ...
Dandy-Walker continuum | Radiology Reference Article | Radiopaedia.org
Blumcke classification of focal cortical dysplasia | Radiology Reference Article | Radiopaedia.org
Congenital Muscular Dystrophy
Brain MRI shows cobblestone lissencephaly with agyria and additional areas of macrogyria and polymicrogyria. The cortex is ... Brain MRI shows signs of cobblestone lissencephaly with pachygyria over the frontal, temporal, and parietal regions and ... and ranges from severe muscular dystrophy with cobblestone complex lissencephaly, eye involvement and an early fatal outcome, ... 28 Seizures also are frequent1 Brain MRI shows cobblestone lissencephaly with areas of polymicrogyria, macrogyria, and agyria, ...
CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM | Journal of Neurology, Neurosurgery & Psychiatry
Type II lissencephaly or Walker-Warburg syndrome. This is also called "cobblestone lissencephaly" and is a different ... Agyria-pachygyria (lissencephaly). There may be complete absence of gyri, in which case the terms agyria or lissencephaly ( ... Type I lissencephaly. Here the brain is small with only the primary and sometimes a few secondary gyri. The cortex is thick ... In type II lissencephaly the cerebral malformations may be associated with eye or muscle abnormalities so that a comprehensive ...
Polymicrogyria: pathology, fetal origins and mechanisms | Acta Neuropathologica Communications | Full Text
The observation of PMG in association with other and better understood forms of brain malformation, such as cobblestone cortex ... In cobblestone lissencephaly the most severe cobblestone pathology is over the lateral aspects of the hemispheres, but the ... Cobblestone lissencephaly, the malformation in GPR56 and TUBA1A mutations as well as PMG tend to spare the base of the brain ... Unlike classical lissencephaly, in the cobblestone malformation the brainstem and cerebellar cortex, which depend on migration ...
Murat Gunel, MD, FACS, FAHA, FAANS > Vascular Biology & Therapeutics Program | Yale School of...
Murat Gunel, MD, FACS, FAHA, FAANS | Neuroscience | Yale School of Medicine
Bilateral frontoparietal polymicrogyria - Wikipedia
... which includes cobblestone lissencephaly. Cobblestone lissencephaly is typically seen in three different human congenital ... In cobblestone lissencephaly, the brain surface actually has a bumpy contour caused by the presence of collections of misplaced ... Lissencephaly ("smooth brain") is the extreme form of pachygyria. In lissencephaly, few or no sulci are seen on the cortical ... However, the presence of other abnormalities in these cobblestone lissencephaly syndromes, including ocular anomalies, ...
Halim Group - University of Copenhagen
Anti-Fukutin/fktn antibody (ab171195)
ILK (integrin-linked kinase)
Graham JB et al. (2020),
Endoplasmic reticulum transmembrane protein TMT... -
Paper
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. 2017, ... Disease Ontology terms: lissencephaly Article Images: [+] show captions FIGURE 1: TMTC3 and TMTC4 are ER resident proteins. (A ... Mutations in TMTC3 have been linked to neuronal cell migration diseases including Cobblestone lissencephaly. Analysis of TMTC3 ... as well the basis of TMTC3-associated Cobblestone lissencephaly. PubMed ID: 31851597 PMC ID: PMC7001481 Article link: Mol Biol ...
Publications | Max Planck Institute for Biophysical Chemistry
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Lissencephaly
Summary Report | CureHunter
Lissencephaly: A smooth brain malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons ... 06/01/2003 - "Retinal and anterior segment abnormalities were observed only in cobblestone (type 2) lissencephaly. ". 02/01/ ... Lissencephaly. Subscribe to New Research on Lissencephaly A "smooth brain" malformation of the CEREBRAL CORTEX resulting from ... the lissencephaly critical region (chromosome 17p) encompassing the LIS1 gene and which is involved in human lissencephaly; and ...
The Dystroglycanopathies: The New Disorders of O-Linked Glycosylation
MalformationPolymicrogyriaClassical lissencephalyMutationsAbnormalitiesHeterotopiaLissencephaliesForms of lissencephaly have been describedResult in cobblestoneCerebralGeneticAnomaliesFukuyamaGenesPlatelet-activating factor acetSevereHuman lissencephalyDisordersTypes of lissencephalyDysplasiaLIS1Mental retardationAgyriaExtracellular matrixPhenotypesMiller-DiekerDystroglycanTypeSyndromeAutosomal recessivePachygyriaCortical surfaceGyriSubtypesGlycosylationSeizuresPatientsDifferential
Malformation9
- Deletion of dystroglycan in the whole brain produced glial/neuronal heterotopia resembling the cerebral cortex malformation in cobblestone lissencephaly. (jneurosci.org)
- Children with lissencephaly generally have significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation and seizure control. (wikipedia.org)
- The observation of PMG in association with other and better understood forms of brain malformation, such as cobblestone cortex, suggests mechanistic pathways for some forms of PMG. (biomedcentral.com)
- Symptoms: Developmental delay, Psychomotor delay, Mental retardation - moderate to severe, Exaggerated reflexes and Seizures (epilepsy) BFPP is a cobblestone-like cortical malformation of the brain. (wikipedia.org)
- Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. (blueprintgenetics.com)
- Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly). (moodmakers.info)
- We have found that mutation in this gene, ric-8a , which encodes a guanine nucleotide exchange factor (GEF) for heterotrimeric G proteins, results in cobblestone lissencephaly-like malformation in the cerebral cortex as well as lobule formation defects in the cerebellum. (wisc.edu)
- Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. (cdc.gov)
- Severe malformation phenotypes, such as X-linked lissencephaly with ambiguous genitalia (XLAG), are frequently observed in individuals with protein truncating or missense mutations clustered in the highly conserved paired-type homeodomain. (biomedcentral.com)
Polymicrogyria7
- However, the presence of other abnormalities in these cobblestone lissencephaly syndromes, including ocular anomalies, congenital muscular dystrophy, ventriculomegaly, and cerebellar dysplasia, usually distinguishes these disorders from polymicrogyria. (wikipedia.org)
- Lissencephaly can be radiologically confused with polymicrogyria, particularly with low-resolution imaging, but the smoothness and lack of irregularity in the gray-white junction, along with markedly increased cortical thickness, distinguishes lissencephaly. (wikipedia.org)
- The CNS lesions are generally characterized by cobblestone lissencephaly, in other words, type II lissencephaly or polymicrogyria. (pubmedcentralcanada.ca)
- Classic lissencephaly , cobblestone lissencephalies, polymicrogyria, schizencephaly, and heterotopia have all been described previously in conjunction with anomalies of the corpus callosum [33-35]. (thefreedictionary.com)
- We report our genetic results for a cohort of more than 950 independent patients with holoprosencephaly (HPE) and neuronal migration disorders (periventricular nodular heterotopia, subcortical band heterotopia, classical lissencephaly, polymicrogyria and cobblestone lissencephaly) over 13 years. (ashg.org)
- Neuropathological examination of the brain shows unlayered polymicrogyria that differs from the classical four-layered polymicrogyria, and is similar to cortical anomaly encountered in the so called "cobblestone" lissencephaly. (eurorad.org)
- Despite having been associated with dyslexia, epilepsy, cobblestone lissencephaly, polymicrogyria, and Fukuyama muscular dystrophy, a complete understanding of the cellular and axonal constituents of molecular layer heterotopia is lacking. (bvsalud.org)
Classical lissencephaly9
- In contrast to type I (classical) lissencephaly, which is characterized by a four-layer cerebral cortex, cobblestone lissencephaly is characterized by glial/neuronal heterotopia that disrupt the laminar organization of the cerebral cortex ( Olson and Walsh, 2002 ). (jneurosci.org)
- In Classical lissencephaly the cortex becomes thickened and can be identified by four layers of the cerebral cortex rather than six. (wikipedia.org)
- two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. (malacards.org)
- in classical lissencephaly (or type i), the cortex appears thickened, with four more or less disorganised layers rather than six normal layers. (malacards.org)
- in the variants of classical lissencephaly, extra-cortical anomalies are also present (total or subtotal agenesis of the corpus callosum and/or cerebellar hypoplasia). (malacards.org)
- Dermatological and imaging evaluation of a 2-year-old male child with refractory seizures and developmental delay revealed an interesting and first of its kind association of congenital melanocytic nevus and classical lissencephaly. (ijpd.in)
- The final diagnosis of CMN with classical lissencephaly was made based on the workup. (ijpd.in)
- Classical lissencephaly results from an arrest of neuronal migration, whereas cobblestone lissencephaly results from overmigration. (eurekaselect.com)
- Pachygyria is currently considered a subtype of "Lissencephaly spectrum of disorders" which ranges from classical lissencephaly (agyria or pachygyria), in which microscopic examination reveals total disorganization of the cortex and absence of any distinguishable layers to subcortical band heterotopia or double-cortex syndrome. (candicelange.com)
Mutations8
- Mutations in this gene result in cobblestone lissencephaly. (genecards.org)
- Mutations in LIS1, DCX (doublecortin), ARX(aristaless related homeobox), RELN have all been identified to cause lissencephaly. (wikipedia.org)
- There are no anatomopathologic studies that have characterized the pattern of cortical laminar alterations in patients with GPR56 gene mutations, but it has been suggested that the imaging characteristics of BFPP, including myelination defects and cerebellar cortical dysplasia, are reminiscent of those of the so-called cobblestone malformations (muscle-eye-brain disease and Fukuyama congenital muscular dystrophy) that are also associated with N-glycosylation defects in the developing brain. (wikipedia.org)
- Mutations in TMTC3 have been linked to neuronal cell migration diseases including Cobblestone lissencephaly. (xenbase.org)
- Analysis of TMTC3 mutations associated with Cobblestone lissencephaly found that three of the variants exhibit reduced stability and missence mutations were unable to complement TMTC3 rescue of gastrulation in Xenopus embryo development. (xenbase.org)
- Mutations in ARX are found in Partington syndrome (a neurological disorder associated with intellectual impairment and focal dystonia of the hands), Ohtahara syndrome , X-linked West syndrome , X-linked generalized epilepsy with myoclonic seizures and intellectual disability and in X-linked structural brain abnormality such as lissencephaly (which may be accompanied by ambiguous genitalia). (epilepsydiagnosis.org)
- Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (moodmakers.info)
- Nonsense mutations, polyalanine tract expansions and missense mutations in ARX cause a range of intellectual disability and epilepsy phenotypes with or without additional features including hand dystonia, lissencephaly, autism or dysarthria. (biomedcentral.com)
Abnormalities6
- Cobblestone lissencephaly shows a reduction and abnormalities in the grey matter of the cerebral cortex. (wikipedia.org)
- Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. (mendelian.co)
- These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease. (bvsalud.org)
- A rare genetic cobblestone lissencephaly disease with characteristics of the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. (cdc.gov)
- The most severe form is Walker-Warburg syndrome (WWS), which has an onset at birth and is characterized by severe muscular dystrophy, cobblestone lissencephaly, cerebellar abnormalities, hydrocephalus, and eye malformations. (biomedcentral.com)
- An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. (expasy.org)
Heterotopia2
- Dobyns: The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. (thefreedictionary.com)
- Type II lissencephaly is characterized by a complete disorganization of the cortex, without discernible layering, and by the presence of gliomesenchymal cell proliferations and neuroglial heterotopia in the leptomeninges [ 8 ]. (beds.ac.uk)
Lissencephalies1
- Heterotopias resembling those found in cobblestone lissencephalies in which neuroepithelial cells migrate into superficial layers of the developing cortex, aberrant cortical projections and loss of infrapyramidal mossy fibers arise in FE65/FE65L1 compound null animals, but not in single gene knockouts. (embopress.org)
Forms of lissencephaly have been described1
- multiple forms of lissencephaly have been described and their current classification is based on the associated malformations and underlying aetiology. (malacards.org)
Result in cobblestone1
- deficiencies in and nitric oxide signalling result in cobblestone brain appearance, resembling human lissencephaly type II phenotype. (ece-inhibitor.com)
Cerebral4
- Disruptions of cerebral cortical development due to abnormal neuronal migration and positioning usually lead to cortical disorders, which includes cobblestone lissencephaly. (wikipedia.org)
- it is characterised by global disorganisation of cerebral organogenesis with an uneven cortical surface (with a pebbled or cobblestone appearance). (malacards.org)
- We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been described previously. (diseaseinfosearch.org)
- Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. (beds.ac.uk)
Genetic4
- There are also a number of genetic causes of lissencephaly, including mutation of the reelin gene (on chromosome 7), as well as other genes on the X chromosome and on chromosome 17. (wikipedia.org)
- Genetic counseling is usually offered if there is a risk of lissencephaly, coupled with genetic testing. (wikipedia.org)
- The cause of lissencephaly has been linked to both genetic and non-genetic factors. (wikipedia.org)
- Yoshioka and Kuroki performed clinical and genetic studies in 41 families with FCMD in Japan in an attempt to distinguish it from the Walker-Warburg syndrome and muscle-eye-brain disease, both of which, like FCMD, show an association of type II lissencephaly and ocular anomalies. (moodmakers.info)
Anomalies7
- MDDGA4 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies. (abcam.com)
- Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. (abcam.com)
- Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. (avivasysbio.com)
- Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g. (bvsalud.org)
- Lissencephaly is a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers. (blueprintgenetics.com)
- Children with lissencephaly have feeding and swallowing problems, muscle tone anomalies (early hypotonia and subsequently limb hypertonia), seizures (in particular, infantile spasms) and severe psychomotor retardation. (blueprintgenetics.com)
- The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. (cdc.gov)
Fukuyama6
- Cobblestone (type II) lissencephaly and mental retardation are characteristic features of a subset of congenital muscular dystrophies that include Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama-type congenital muscular dystrophy. (jneurosci.org)
- A subset of congenital muscular dystrophies (CMDs), including Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS), feature brain defects that include cobblestone (type II) lissencephaly ( Muntoni and Voit, 2004 ). (jneurosci.org)
- Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama congenital muscular dystrophy. (medlineplus.gov)
- Cobblestone lissencephaly is typically seen in three different human congenital muscular dystrophy syndromes: Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and muscle-eye-brain disease. (wikipedia.org)
- cobblestone lissencephaly (formally referred to as type ii) is present in three entities: the walker-warburg, fukuyama and meb (muscle-eye-brain) syndromes (see these terms). (malacards.org)
- Cobblestone lissencephaly is a severe neuronal migration disorder associated with congenital muscular dystrophies (CMD) such as Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama-type CMD. (biomedcentral.com)
Genes2
- The genes associated with lissencephaly are still being discovered however due to advances in genetics individual genes are being identified as the cause of lissencephaly. (wikipedia.org)
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Lissencephaly in a table called Phenotypic Series. (cdc.gov)
Platelet-activating factor acet1
- An important gene associated with Lissencephaly is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways/superpathways are Reelin Pathway (Cajal-Retzius cells) and Guidance Cues and Growth Cone Motility . (malacards.org)
Severe2
- the epilepsy is often resistant to treatment.prognosisthe encephalopathy associated with lissencephaly is often very severe and affected children are completely dependent on their carer.visit the orphanet disease page for more resources. (malacards.org)
- The encephalopathy associated with lissencephaly is often very severe and affected children are completely dependent on their carer. (cdc.gov)
Human lissencephaly1
- LIS1, the product of a causal gene for human lissencephaly (smooth brain), has also been implicated in dynein function based on studies in fungi and more recent studies in higher eukaryotic systems (for review see Gupta et al. (curehunter.com)
Disorders4
- Lissencephaly (meaning "smooth brain") is a set of rare brain disorders where the whole or parts of the surface of the brain appear smooth. (wikipedia.org)
- Lissencephaly is one of a heterogenous group of disorders arising from aberrant neuronal migration. (biomedcentral.com)
- Pachygyria is considered a subtype of lissencephaly which, in turn, is a spectrum of disorders caused by abnormal neuronal migration. (candicelange.com)
- 1] These disorders have been discussed classically under umbrella of lissencephaly, which means "smooth brain. (candicelange.com)
Types of lissencephaly2
- There are anatomical symptoms that differ across the two main types of lissencephaly, Classical (Type I) and Cobble Stone (Type 2). (wikipedia.org)
- Three main types of lissencephaly have been identified and although all types display the similar symptoms the pathogenesis of each type varies. (wikipedia.org)
Dysplasia1
- Cobblestone lissencephaly encompasses a spectrum of brain malformations, including cerebellar dysplasia, due to defects in neuronal migration. (biomedcentral.com)
LIS11
- The mutation or deletion involving LIS1 is associated with both Isolated Lissencephaly Syndrome and Miller-Dieker syndrome. (wikipedia.org)
Mental retardation1
- During development, defects in the glycosylation of α-dystroglycan that impair its ability to interact with the extracellular matrix (ECM) are frequently associated with cobblestone lissencephaly and mental retardation. (cf.ac.uk)
Agyria1
- Lissencephaly refers to a 'smooth brain' with absent gyri (agyria) or abnormally wide gyri (pachygyria). (blueprintgenetics.com)
Extracellular matrix2
- miRNA-based buffering of the cobblestone-lissencephaly-associated extracellular matrix receptor dystroglycan via its alternative 3′-UTR. (mpg.de)
- Yatsenko AS, Marrone AK, Shcherbata HR. miRNA-based buffering of the cobblestone-lissencephaly-associated extracellular matrix receptor dystroglycan via its alternative 3′-UTR. (springer.com)
Phenotypes1
- In ric-8a mutants, ectopic neurons are found at the pial surface, in association with breaks in the basement membrane, similar to phenotypes in type II (cobblestone) lissencephaly in humans. (wisc.edu)
Miller-Dieker1
- Lissencephaly is related to lissencephaly 1 and miller-dieker lissencephaly syndrome . (malacards.org)
Dystroglycan2
- KEYWORDS dystroglycan, glycosylation, laminin, lissencephaly, neuromuscular junction, skeletal muscle REVIEW CRITERIA PubMed was searched using Entrez for articles published from January to January Search terms included dystroglycan, muscular dystrophy, congenital muscular dystrophy, and muscle and glycosylation. (healthdocbox.com)
- The CNS lesion of FCMD is characterized by cobblestone lissencephaly, associated with decreased glycosylation of α-dystroglycan in the glia limitans where the basement membrane is formed. (eurekaselect.com)
Type3
- The incidence of all forms of type I lissencephaly is around 1/100,000 births. (blueprintgenetics.com)
- The pathological features reported are consistent with the type LCH-b (lissencephaly with cerebellar hypoplasia group b) defined in human medicine. (beds.ac.uk)
- Although exact incidence of this disorder is not known, the incidence of all forms of Type I lissencephaly is estimated to be 1 in 100,000 births. (candicelange.com)
Syndrome2
- A persistently and significantly small fetal head with normal-appearing sonographic anatomy may, for example, reveal a lissencephaly syndrome on MRI exam. (thefreedictionary.com)
- Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. (diseaseinfosearch.org)
Autosomal recessive1
- The study describes the clinical and pathological findings of lissencephaly with cerebellar hypoplasia in Churra lambs for which an autosomal recessive inheritance was the most likely cause. (beds.ac.uk)
Pachygyria1
- Lissencephaly ("smooth brain") is the extreme form of pachygyria. (wikipedia.org)
Cortical surface2
- Cobblestone lissencephaly is named after the pebbled or cobblestone appearance of the cortical surface. (wikipedia.org)
- In lissencephaly, few or no sulci are seen on the cortical surface, resulting in a broad, smooth appearance to the entire brain. (wikipedia.org)
Gyri3
- It is the disruption of the radial and tangential migration that causes reduced or absence gyri that is known as lissencephaly. (wikipedia.org)
- Lissencephaly is characterized by a smooth brain surface due to a lack of gyri and sulci. (thefreedictionary.com)
- The characteristic 'smooth brain', due to a paucity of normal gyri and sulci, is due to either the arrest of neuronal migration (classical) or an over-migration of neurons (cobblestone). (biomedcentral.com)
Subtypes1
- There are two pathologic subtypes: classical and cobblestone. (eurekaselect.com)
Glycosylation1
- Our study demonstrates that TMTC3 regulates O-linked glycosylation and cadherin-mediated adherence, providing insight into its effect on cellular adherence and migration, as well the basis of TMTC3-associated Cobblestone lissencephaly. (xenbase.org)
Seizures1
- [2] We describe an extremely rare association of lissencephaly with CMN without any NCM in a 2-year-old male child with refractory seizures and developmental delay. (ijpd.in)
Patients1
- Is ideal for patients with a clinical diagnosis or a suspicion of lissencephaly. (blueprintgenetics.com)
Differential1
- This report suggests that lissencephaly should be considered in the differential diagnosis of congenital neurological disease in newborn lambs showing weakness, inability to walk and difficulty sucking. (beds.ac.uk)