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2014 ; 137
(Pt 6
): 1579-613
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Clinical, genetic and imaging findings identify new causes for corpus callosum
development syndromes
#MMPMID24477430
Brain
2014[Jun]; 137
(Pt 6
): 1579-613
PMID24477430
show ga
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.
|Agenesis of Corpus Callosum/*genetics/physiopathology
[MESH]