Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interactio...

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Published inBrain (London, England : 1878) Vol. 137; no. Pt 6; pp. 1579 - 1613
Main Authors EDWARDS, Timothy J, SHERR, Elliott H, BARKOVICH, A. James, RICHARDS, Linda J
Format Journal Article
LanguageEnglish
Published Oxford Oxford University Press 01.06.2014
SeriesEditor's Choice
Subjects
Agenesis of Corpus Callosum - genetics
Agenesis of Corpus Callosum - physiopathology
Animals
Biological and medical sciences
Corpus Callosum - growth & development
Corpus Callosum - pathology
Disease Models, Animal
Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes
Genetic Predisposition to Disease - genetics
Humans
Investigative techniques, diagnostic techniques (general aspects)
Medical sciences
Mutation - genetics
Nervous system
Nervous system (semeiology, syndromes)
Neurology
Radiodiagnosis. Nmr imagery. Nmr spectrometry
Review
Guidance
Nervous system diseases
midline patterning
Central nervous system disease
neurogenesis
Axon
axon guidance
neuronal specification
Corpus callosum syndrome
Corpus callosum
Cerebral disorder
corpus callosum
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Abstract The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field.
AbstractList The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field.
Individuals with corpus callosum malformations are phenotypically diverse, and often present with broad neurodevelopmental disorders. Edwards et al. review the clinical features of these patients and provide a comprehensive classification of syndromes associated with callosal agenesis, based on a neural developmental framework that will guide future advances in the field. The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field.
Author BARKOVICH, A. James
SHERR, Elliott H
RICHARDS, Linda J
EDWARDS, Timothy J
Author_xml – sequence: 1
  givenname: Timothy J
  surname: EDWARDS
  fullname: EDWARDS, Timothy J
  organization: Queensland Brain Institute, The University of Queensland, Brisbane, 4072, Australia
– sequence: 2
  givenname: Elliott H
  surname: SHERR
  fullname: SHERR, Elliott H
  organization: Departments of Pediatrics and Neurosurgery, Radiology and Biomedical Imaging, The University of California Children's Hospital, CA 94143, United States
– sequence: 3
  givenname: A. James
  surname: BARKOVICH
  fullname: BARKOVICH, A. James
  organization: Departments of Pediatrics and Neurosurgery, Radiology and Biomedical Imaging, The University of California Children's Hospital, CA 94143, United States
– sequence: 4
  givenname: Linda J
  surname: RICHARDS
  fullname: RICHARDS, Linda J
  organization: Queensland Brain Institute, The University of Queensland, Brisbane, 4072, Australia
BackLink http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=28499667$$DView record in Pascal Francis
https://www.ncbi.nlm.nih.gov/pubmed/24477430$$D View this record in MEDLINE/PubMed
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The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2014
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Wed Oct 16 00:59:49 EDT 2024
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Issue Pt 6
Keywords Guidance
Nervous system diseases
midline patterning
Central nervous system disease
neurogenesis
Axon
axon guidance
neuronal specification
Corpus callosum syndrome
Corpus callosum
Cerebral disorder
corpus callosum
Language English
License CC BY 4.0
The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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Snippet The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and...
Individuals with corpus callosum malformations are phenotypically diverse, and often present with broad neurodevelopmental disorders. Edwards et al. review the...
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StartPage 1579
SubjectTerms Agenesis of Corpus Callosum - genetics
Agenesis of Corpus Callosum - physiopathology
Animals
Biological and medical sciences
Corpus Callosum - growth & development
Corpus Callosum - pathology
Disease Models, Animal
Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes
Genetic Predisposition to Disease - genetics
Humans
Investigative techniques, diagnostic techniques (general aspects)
Medical sciences
Mutation - genetics
Nervous system
Nervous system (semeiology, syndromes)
Neurology
Radiodiagnosis. Nmr imagery. Nmr spectrometry
Review
Title Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes
URI https://www.ncbi.nlm.nih.gov/pubmed/24477430
https://search.proquest.com/docview/1542298668
https://pubmed.ncbi.nlm.nih.gov/PMC4032094
Volume 137
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