The corpus callosum is a large fiber tract that connects neurons in the right and left cerebral hemispheres. Agenesis of the corpus callosum (ACC) is associated with a large number of human syndromes but little is known about why ACC occurs. In most cases of ACC, callosal axons are able to grow toward the midline but are unable to cross it, continuing to grow into large swirls of axons known as...

Introduction: Dandy Walker Syndrome (DWS) is a congenital brain malformation characterized by hypoplasia or absence of cerebellar vermis, cystic dilatation of fourth ventricle and hydrocephalus. It is frequently associated with other congenital anomalies. Associated central nervous system anomalies such as agenesis of corpus callosum and vermis are associated with poor prognosis. Association of...

A 22-year-old woman presented with learning disability and gait unsteadiness since adolescence. Medical history revealed episodes of encephalopathy and myoclonic jerks associated with intercurrent infections. Examination showed spastic paraparesis, ataxia and optic atrophy. Neuroimaging revealed agenesis of corpus callosum (Figure). Plasma amino acid analysis disclosed elevated glycine levels w...

Aicardi syndrome is a severe congenital disorder characterised by infantile spasms, chorioretinal lacunae, and agenesis ofthe corpus callosum. We present the case of a 10-year-old girl whose symptoms included a poorly controlled seizure disorder, typical lacunar retinopathy, partial hypoplasia of the corpus callosum, and mild developmental delay. This case alerts ophthalmologists to the presenc...

The development of the corpus callosum depends on a large number of different cellular and molecular mechanisms. These include the formation of midline glial populations, and the expression of specific molecules required to guide callosal axons as they cross the midline. An additional mechanism used by callosal axons from neurons in the neocortex is to grow within the pathway formed by pioneeri...

A three locus model of the inheritance of absent corpus callosum in mice was tested by creating F1 and F2 hybrid crosses from the strains BALB/cWah1 and 129/J which show incomplete penetrance for callosal agenesis. The model predicted that a few of the F2 hybrid mice would suffer severe reduction of the hippocampal commissure when the corpus callosum was absent, a condition that usually occurs ...

A feature in patients with constitutional DNA-mismatch repair deficiency is agenesis of the corpus callosum, the cause of which has not been established. Here we report a previously unrecognized consequence of deficiency in MSH2, a protein known primarily for its function in correcting nucleotide mismatches or insertions and deletions in duplex DNA caused by errors in DNA replication or recombi...