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

Edwards, Timothy J., Sherr, Elliott H., Barkovich, A. James and Richards, Linda J. (2014) Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain, 137 6: 1579-1613. doi:10.1093/brain/awt358


Author Edwards, Timothy J.
Sherr, Elliott H.
Barkovich, A. James
Richards, Linda J.
Title Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes
Journal name Brain   Check publisher's open access policy
ISSN 0006-8950
1460-2156
Publication date 2014-01-01
Year available 2014
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1093/brain/awt358
Open Access Status DOI
Volume 137
Issue 6
Start page 1579
End page 1613
Total pages 35
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Language eng
Subject 2728 Clinical Neurology
1201 Architecture
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.
Keyword Axon guidance
Corpus Callosum
Midline patterning
Neurogenesis
Neuronal specification
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID APP1048849
R01NS058721
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Queensland Brain Institute Publications
Official 2015 Collection
School of Biomedical Sciences Publications
 
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