Cobblestone Lissencephaly

Lissencephaly

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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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Lissencephaly

Bilateral frontoparietal polymicrogyria

Fukuyama congenital muscular dystrophy

Pachygyria

Neuronal migration6

• Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. (medlineplus.gov)
• Abnormal neuronal migration arrest give rise to over-migration of neurons in cobblestone lissencephaly. (asia-pacific.tv)
• Mutations in -Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans However, it is not clear how abnormal neuronal migration causes mental dysfunction. (asia-pacific.tv)
• Lissencephaly is a disorder resulting from abnormal neuronal migration. (asia-pacific.tv)
• Mutations in human cause abnormal neuronal migration and a clean brain phenotype known as lissencephaly. (asia-pacific.tv)
• Of the six causative genes for classical lissencephaly, three, LIS1, DCX, and TUBA1Aencode for microtubule-related proteins, indicating the importance of this pathway for neuronal migration (Table 1). (asia-pacific.tv)

Genetic5

• 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)
• Lissencephaly is a rare genetic brain condition. (asia-pacific.tv)
• Miller-Dieker lissencephaly syndrome is a genetic condition identified by a pattern of abnormal brain development known. (thinkgenetic.com)
• Are any other genetic conditions similar to Miller-Dieker lissencephaly syndrome? (thinkgenetic.com)
• There are other genetic conditions that include lissencephaly (smooth brain). (thinkgenetic.com)

LIS11

• Classic lissencephaly is caused by mutations in the LIS1 gene. (thinkgenetic.com)

Syndrome6

• 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)
• Overview: What is Miller-Dieker lissencephaly syndrome? (thinkgenetic.com)
• The normal brain has many folds and grooves and individuals with Miller-Dieker lissencephaly syndrome have fewer folds and grooves or what looks like an abnormally smooth brain. (thinkgenetic.com)
• What are the usual abbreviations for Miller-Dieker lissencephaly syndrome? (thinkgenetic.com)
• Are there other names for Miller-Dieker lissencephaly syndrome? (thinkgenetic.com)
• The exact prevalence of Miller-Dieker lissencephaly syndrome is unknown, but it is thought to be a rare condition. (thinkgenetic.com)

Abnormalities1

• Features include "cobblestone" lissencephaly, severe developmental delay and intellectual disability, muscle weakness and wasting early in life, and eye abnormalities. (thinkgenetic.com)

Brain3

• 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). (medlineplus.gov)
• 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)
• The specific brain difference called lissencephaly (smooth brain) is thought to be seen in 11.7-40 per million birth. (thinkgenetic.com)

Type1

• 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. (rush.edu)

Classic1

• Classic lissencephaly is caused by mutations in the TUBA1A gene. (thinkgenetic.com)

Malformation3

• Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). (nih.gov)
• Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. (istanbulbilim.edu.tr)
• AIMS/BACKGROUND: To report a novel pattern of oculocerebral malformation related to the group of diseases characterised by cobblestone lissencephaly. (duke.edu)

Syndromes3

• Based on the current diagnostic criteria for the cobblestone lissencephaly syndromes, this disorder must be classified separately from the others, but it may well be allelic to MEB and WWS. (nih.gov)
• 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. (nih.gov)
• CONCLUSION: Retinal dysgenesis occurs in the group of syndromes with 'cobblestone lissencephaly', the best known being Walker-Warburg syndrome. (duke.edu)

Band heterotopia1

• PAFAH1B1 -related lissencephaly/subcortical band heterotopia (SBH) comprises a spectrum of severity. (nih.gov)

Polymicrogyria1

• Lissencephaly and polymicrogyria were reported most frequently. (researchportal.be)

Malformations3

• Lissencephaly is a condition that causes the cerebral cortex of the brain to become abnormally smooth, which results in a multitude of symptoms including facial malformations and even seizures. (news-medical.net)
• ILS is a disorder consisting of severe lissencephaly with no other malformations, whereas MDS consists of more severe lissencephaly than ILS patients, other facial abnormalities (e.g. high forehead, small nose, and small jaw), and other non-facial malformations. (news-medical.net)
• 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)

Microcephaly2

• Other findings in PAFAH1B1 -related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression. (nih.gov)
• Genetics and Biology of Microcephaly and Lissencephaly. (news-medical.net)

Disorder2

• Individuals diagnosed with isolated PAFAH1B1 -related lissencephaly/SBH typically have the disorder as the result of a de novo genetic alteration (an intragenic PAFAH1B1 pathogenic variant or, rarely, a chromosome rearrangement that disrupts PAFAH1B1 ). (nih.gov)
• In rare families, an individual with PAFAH1B1 -related lissencephaly/SBH has the disorder as the result of autosomal dominant inheritance of a PAFAH1B1 pathogenic variant from a parent. (nih.gov)

Severe1

• In individuals with PAFAH1B1 -related lissencephaly/SBH, developmental delay ranges from mild to severe. (nih.gov)

Seizures3

• Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. (nih.gov)
• Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. (nih.gov)
• Common symptoms of lissencephaly include an unusual facial structure, a difficulty swallowing, muscle spasms, seizures, and psychomotor retardation. (news-medical.net)

Complex1

• There are two types of lissencephaly, classic lissencephaly (type 1) and cobblestone complex (type 2). (news-medical.net)

Genetic1

• The diagnosis of PAFAH1B1 -related lissencephaly/SBH is established in a proband with a heterozygous pathogenic variant in PAFAH1B1 identified by molecular genetic testing . (nih.gov)

Genes2

• Research has shown that several different genes contribute to the development of lissencephaly which is a testament to the varied expression seen between different children with the disease. (news-medical.net)
• Two main genes have been identified to directly cause lissencephaly. (news-medical.net)

Alternative1

• miRNA-based buffering of the cobblestone-lissencephaly-associated extracellular matrix receptor ​dystroglycan via its alternative 3′-UTR. (mpg.de)

Result1

• Mutations in this gene result in cobblestone lissencephaly. (nih.gov)

Development1

• Current research on mice models has given important insights into the development of more treatment options for lissencephaly. (news-medical.net)