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.)
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.
Disorders resulting from defects in migration of neuronal cells during neurogenesis. Developing nerve cells either fail to migrate or they migrate to incorrect positions resulting in formation of heterotopias, lissencephaly, or other malformations and dysfunctions of the nervous system.
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.
Peptides released by NEURONS as intercellular messengers. Many neuropeptides are also hormones released by non-neuronal cells.
A mass of histologically normal tissue present in an abnormal location.
A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches.
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.

The structure of the coiled-coil domain of Ndel1 and the basis of its interaction with Lis1, the causal protein of Miller-Dieker lissencephaly. (1/12)

Ndel1 and Nde1 are homologous and evolutionarily conserved proteins, with critical roles in cell division, neuronal migration, and other physiological phenomena. These functions are dependent on their interactions with the retrograde microtubule motor dynein and with its regulator Lis1--a product of the causal gene for isolated lissencephaly sequence (ILS) and Miller-Dieker lissencephaly. The molecular basis of the interactions of Ndel1 and Nde1 with Lis1 is not known. Here, we present a crystallographic study of two fragments of the coiled-coil domain of Ndel1, one of which reveals contiguous high-quality electron density for residues 10-166, the longest such structure reported by X-ray diffraction at high resolution. Together with complementary solution studies, our structures reveal how the Ndel1 coiled coil forms a stable parallel homodimer and suggest mechanisms by which the Lis1-interacting domain can be regulated to maintain a conformation in which two supercoiled alpha helices cooperatively bind to a Lis1 homodimer.  (+info)

Characterization of the HeCo mutant mouse: a new model of subcortical band heterotopia associated with seizures and behavioral deficits. (2/12)

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Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. (3/12)

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Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization. (4/12)

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Independent component analysis reveals dynamic ictal BOLD responses in EEG-fMRI data from focal epilepsy patients. (5/12)

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Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. (6/12)

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Disturbances in the positioning, proliferation and apoptosis of neural progenitors contribute to subcortical band heterotopia formation. (7/12)

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Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3. (8/12)

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Classical lissencephaly and subcortical band heterotopia are rare neurological conditions that affect the development of the brain. These conditions are characterized by abnormal migration of nerve cells (neurons) during fetal development, leading to a smooth brain surface or disorganized layers of neurons.

Classical lissencephaly, also known as "smooth brain," is a condition where the brain's surface appears smooth due to the absence of normal convolutions (gyri) and sulci. This occurs because the nerve cells fail to migrate properly during fetal development, resulting in a thickened cortex with disorganized layers of neurons.

Subcortical band heterotopia, also known as "double cortex syndrome," is a condition where there are abnormal clusters of nerve cells located between the cortex and the white matter of the brain. These clusters form a band-like structure beneath the cerebral cortex, hence the name "subcortical."

Both classical lissencephaly and subcortical band heterotopia can result in varying degrees of intellectual disability, developmental delay, seizures, motor impairment, and visual abnormalities. The severity of these symptoms depends on the extent and location of the brain abnormalities.

These conditions are typically caused by genetic mutations that affect genes involved in neuronal migration during fetal development. In some cases, they can be inherited from parents or occur spontaneously due to new mutations.

Lissencephaly is a rare neurological disorder characterized by the absence or significant reduction of normal folds (gyri) and sulci (grooves) in the cerebral cortex of the brain. The cerebral cortex, which is responsible for higher brain functions such as thinking, learning, and language, usually has a smooth, flat appearance in individuals with lissencephaly. This condition results from abnormal neuronal migration during fetal development, where nerve cells fail to migrate to their proper positions in the brain.

There are several types of lissencephaly, each with distinct genetic causes and associated symptoms. The most common form is Type I (Classic) Lissencephaly, which affects both hemispheres of the brain and is characterized by a smooth brain surface with four bands of shallow grooves. Other forms include Type II (Cobblestone) Lissencephaly, Miller-Dieker Syndrome, and X-linked Lissencephaly with Ambiguous Genitalia (XLAG).

Symptoms of lissencephaly can vary but often include severe intellectual disability, developmental delays, muscle spasticity or hypotonia, seizures, difficulty swallowing, and problems with vision and hearing. The severity of the condition depends on the extent of the brain malformation. Lissencephaly is a lifelong condition, and individuals with this disorder usually require extensive care and support throughout their lives.

Neuronal migration disorders (NMDs) are a group of genetic conditions that affect the development and migration of neurons (nerve cells) in the brain during embryonic development. These disorders result from abnormalities in the genetic code that control the movement and organization of neurons as they migrate to their proper positions in the brain.

NMDs can cause a wide range of neurological symptoms, depending on which areas of the brain are affected and the severity of the disorder. Symptoms may include intellectual disability, developmental delay, seizures, motor abnormalities, vision or hearing problems, and behavioral issues. Some NMDs may also be associated with structural brain abnormalities that can be seen on imaging studies.

Examples of neuronal migration disorders include lissencephaly, pachygyria, heterotopias, and agyria. These conditions are typically diagnosed through a combination of clinical evaluation, genetic testing, and neuroimaging studies. Treatment for NMDs is generally supportive and may involve medications, therapies, and surgical interventions to manage symptoms and improve quality of life.

Cobblestone lissencephaly is a type of brain malformation characterized by a smooth brain surface with no normal convolutions (gyri) or indentations (sulci). Instead, the brain surface has a pebbly or "cobblestone" appearance. This condition is caused by abnormal migration of nerve cells during fetal development.

In cobblestone lissencephaly, the nerve cells that should form the outer layer of the brain (the cerebral cortex) fail to migrate properly and instead accumulate in thick layers beneath the surface of the brain. This can lead to severe intellectual disability, seizures, muscle spasticity, vision problems, and other neurological issues.

Cobblestone lissencephaly is often associated with genetic disorders such as Walker-Warburg syndrome, Muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy. It can also be seen in some cases of congenital infection or exposure to environmental toxins during pregnancy.

Neuropeptides are small protein-like molecules that are used by neurons to communicate with each other and with other cells in the body. They are produced in the cell body of a neuron, processed from larger precursor proteins, and then transported to the nerve terminal where they are stored in secretory vesicles. When the neuron is stimulated, the vesicles fuse with the cell membrane and release their contents into the extracellular space.

Neuropeptides can act as neurotransmitters or neuromodulators, depending on their target receptors and the duration of their effects. They play important roles in a variety of physiological processes, including pain perception, appetite regulation, stress response, and social behavior. Some neuropeptides also have hormonal functions, such as oxytocin and vasopressin, which are produced in the hypothalamus and released into the bloodstream to regulate reproductive and cardiovascular function, respectively.

There are hundreds of different neuropeptides that have been identified in the nervous system, and many of them have multiple functions and interact with other signaling molecules to modulate neural activity. Dysregulation of neuropeptide systems has been implicated in various neurological and psychiatric disorders, such as chronic pain, addiction, depression, and anxiety.

A choristoma is a type of growth that occurs when normally functioning tissue is found in an abnormal location within the body. It is not cancerous or harmful, but it can cause problems if it presses on surrounding structures or causes symptoms. Choristomas are typically congenital, meaning they are present at birth, and are thought to occur due to developmental errors during embryonic growth. They can be found in various organs and tissues throughout the body, including the brain, eye, skin, and gastrointestinal tract.

Periventricular Nodular Heterotopia (PNH) is a type of brain malformation where nodules or clusters of gray matter are abnormally located in the periventricular region, which is the area surrounding the ventricles (fluid-filled spaces) within the brain. These nodules fail to migrate to their proper location during brain development, resulting in the heterotopia or misplacement of neurons.

PNH can be classified into two types: symmetrical and asymmetrical. Symmetrical PNH is characterized by bilateral, symmetric nodules along the lateral ventricles, while asymmetrical PNH presents with unilateral or asymmetric nodular distribution. The condition may occur as an isolated finding (nonsyndromic) or in association with other brain abnormalities and genetic disorders (syndromic).

The severity of symptoms associated with Periventricular Nodular Heterotopia varies widely, ranging from normal cognitive function to various neurological impairments such as epilepsy, intellectual disability, and motor deficits. The presence of PNH may increase the risk for developing seizures, particularly in cases where nodules are large or located near the cortex. Treatment typically focuses on managing symptoms, including antiepileptic drugs to control seizures and rehabilitation therapies to address any neurological deficits.

Nervous system malformations, also known as nervous system dysplasias or developmental anomalies, refer to structural abnormalities or defects in the development of the nervous system. These malformations can occur during fetal development and can affect various parts of the nervous system, including the brain, spinal cord, and peripheral nerves.

Nervous system malformations can result from genetic mutations, environmental factors, or a combination of both. They can range from mild to severe and may cause a wide variety of symptoms, depending on the specific type and location of the malformation. Some common examples of nervous system malformations include:

* Spina bifida: a defect in the closure of the spinal cord and surrounding bones, which can lead to neurological problems such as paralysis, bladder and bowel dysfunction, and hydrocephalus.
* Anencephaly: a severe malformation where the brain and skull do not develop properly, resulting in stillbirth or death shortly after birth.
* Chiari malformation: a structural defect in the cerebellum, the part of the brain that controls balance and coordination, which can cause headaches, neck pain, and difficulty swallowing.
* Microcephaly: a condition where the head is smaller than normal due to abnormal development of the brain, which can lead to intellectual disability and developmental delays.
* Hydrocephalus: a buildup of fluid in the brain that can cause pressure on the brain and lead to cognitive impairment, vision problems, and other neurological symptoms.

Treatment for nervous system malformations depends on the specific type and severity of the condition and may include surgery, medication, physical therapy, or a combination of these approaches.

... mixed pachygyria and subcortical band heterotopia Grade 6: subcortical band heterotopia alone Gradient 'a': from posterior to ... Classical lissencephaly can range from agyria to regional pachygyria and is usually present along with subcortical band ... types are associated with corpus callosum agenesis or cerebellar hypoplasia while the cobblestone lissencephalies are ... and subcortical band heterotopia with an agyria-pachygyria band spectrum. Normal neuronal migration involves the development of ...
... mixed pachygyria and subcortical band heterotopia Grade 6: subcortical band heterotopia alone Gradient a: from posterior to ... Classical lissencephaly can range from agyria to regional pachygyria and is usually present along with subcortical band ... types are associated with corpus callosum agenesis or cerebellar hypoplasia while the cobblestone lissencephalies are ... and subcortical band heterotopia with an agyria-pachygyria band spectrum. Normal neuronal migration involves the development of ...
Classical Lissencephalies and Subcortical Band Heterotopias 49% * Genes 47% * Proteins 44% * Neurons 40% ...
Classical Lissencephalies and Subcortical Band Heterotopias 15% View all 846 research outputs ...
Classical Lissencephalies and Subcortical Band Heterotopias [C10.500.507.450.230] Classical Lissencephalies and Subcortical ... Heterotopias, Subcortical Band Heterotopias, Subcortical Laminar Subcortical Band Heterotopias Subcortical Laminar Heterotopia ... Subcortical Band Heterotopia. Subcortical Band Heterotopias. Subcortical Laminar Heterotopia. Syndrome, Classical Lissencephaly ... Heterotopia, Lissencephaly-Subcortical Band. Heterotopia, Subcortical Band. Heterotopia, Subcortical Laminar. Heterotopias, ...
A8.675.127 Classical Lissencephalies and Subcortical Band Heterotopias C10.500.507.249.230 C10.500.507.450.230 C10.500.507.750. ... A8.186.211.653.413.500.595 Periventricular Nodular Heterotopia C10.500.507.750.750 C10.500.507.450.750 C16.131.666.507.812.750 ...
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda. Classical Lissencephalies and Subcortical Band Heterotopias. ... Heterotopia Nodular Periventricular. Periventricular Nodular Heterotopia. Heterotopía Nodular Periventricular. Lissencefalia. ...
Classical Lissencephalies and Subcortical Band Heterotopias* Actions. * Search in PubMed * Search in MeSH ... and subcortical band heterotopia (SBH) (40 %). Furthermore, five out of six subjects with suspect tubulinopathies on imaging ...
Classical Lissencephalies and Subcortical Band Heterotopias / pathology* Actions. * Search in PubMed * Search in MeSH ... Classical (type I) lissencephaly and Miller-Dieker syndrome. Matarese CA, Renaud DL. Matarese CA, et al. Pediatr Neurol. 2009 ...
A8.675.127 Classical Lissencephalies and Subcortical Band Heterotopias C10.500.507.249.230 C10.500.507.450.230 C10.500.507.750. ... A8.186.211.653.413.500.595 Periventricular Nodular Heterotopia C10.500.507.750.750 C10.500.507.450.750 C16.131.666.507.812.750 ...
Classical Lissencephalies and Subcortical Band Heterotopias Preferred Term Term UI T684521. Date10/24/2006. LexicalTag NON. ... Subcortical Band Heterotopia Narrower Concept UI. M0501378. Terms. Subcortical Band Heterotopia Preferred Term Term UI T680780 ... Classical Lissencephalies and Subcortical Band Heterotopias Preferred Concept UI. M0501375. Scope Note. Disorders comprising a ... Classical Lissencephalies and Subcortical Band Heterotopias. Tree Number(s). C10.500.507.450.230. C10.500.507.450.499.230. ...
Classical Lissencephalies and Subcortical Band Heterotopias Preferred Term Term UI T684521. Date10/24/2006. LexicalTag NON. ... Subcortical Band Heterotopia Narrower Concept UI. M0501378. Terms. Subcortical Band Heterotopia Preferred Term Term UI T680780 ... Classical Lissencephalies and Subcortical Band Heterotopias Preferred Concept UI. M0501375. Scope Note. Disorders comprising a ... Classical Lissencephalies and Subcortical Band Heterotopias. Tree Number(s). C10.500.507.450.230. C10.500.507.450.499.230. ...
Classical Lissencephalies and Subcortical Band Heterotopias *X-linked Lissencephaly. *Lissencephaly, X-linked ...
Classical Lissencephalies and Subcortical Band Heterotopias Medicine & Life Sciences 33% * Lissencephaly Medicine & Life ...
HN - 2022(1998) BX - Lissencephaly, X-Linked Protein FX - Classical Lissencephalies and Subcortical Band Heterotopias MH - ... HN - 2022 BX - Subcortical Ischemic Depression MH - Vermilingua UI - D000091142 MN - B1.50.150.900.649.313.999.475 MS - A ...
A8.675.127 Classical Lissencephalies and Subcortical Band Heterotopias C10.500.507.249.230 C10.500.507.450.230 C10.500.507.750. ... A8.186.211.653.413.500.595 Periventricular Nodular Heterotopia C10.500.507.750.750 C10.500.507.450.750 C16.131.666.507.812.750 ...
HN - 2022(1998) BX - Lissencephaly, X-Linked Protein FX - Classical Lissencephalies and Subcortical Band Heterotopias MH - ... HN - 2022 BX - Subcortical Ischemic Depression MH - Vermilingua UI - D000091142 MN - B1.50.150.900.649.313.999.475 MS - A ...
Classical Lissencephalies and Subcortical Band Heterotopias. Lissencefalias Clássicas e Heterotopias Subcorticais em Banda. ... Periventricular Nodular Heterotopia. Heterotopia Nodular Periventricular. Heterotopía Nodular Periventricular. Posterior ...
Classical Article Classical Lissencephalies and Subcortical Band Heterotopias Classical Swine Fever Classical swine fever virus ... Classical Pathway Complement C5a Complement C5a, des-Arginine Complement C5b Complement C6 Complement C7 Complement C8 ... Classical Pathway Complement C3 Nephritic Factor Complement C3-C5 Convertases Complement C3-C5 Convertases, Alternative Pathway ... Classical Conditioning, Eyelid Conditioning, Operant Condoms Condoms, Female Conduct Disorder Conducted Energy Weapon Injuries ...
  • Should neurons follow an abnormal migration during development possible cortical malformations include classical lissencephaly (as stated above) and subcortical band heterotopia with an agyria-pachygyria band spectrum. (wikipedia.org)
  • Below, the mutations of LIS1 or DCX genes are discussed as they are most commonly linked to neuronal migration disorders including lissencephaly-pachygyria and subcortical band heterotopia. (wikipedia.org)
  • 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. (bvsalud.org)

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