Biallelic mutations in human DCC cause developmental split-brain syndrome.

Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor 'deleted in colorectal carcinoma' (DCC), which has been implicated in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been reported.

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

Microtubules are essential components of axon guidance machinery. Among β-tubulin mutations, only those in TUBB3 have been shown to cause primary errors in axon guidance. All identified mutations in TUBB2B result in polymicrogyria, but it remains unclear whether TUBB2B mutations can cause axon dysinnervation as a primary phenotype.

Distinct representations of phonemes, syllables, and supra-syllabic sequences in the speech production network.

Functional neuroimaging studies have converged on a core network of brain regions that supports speech production, but the sublexical processing stages performed by the different parts of this network remain unclear. Using an fMRI adaptation paradigm and quantitative analysis of patterns of activation rather than contrast subtractions alone, we were able to identify a set of neural substrates predominantly engaged in phonemic, syllabic, and supra-syllabic levels of processing during speech. Phoneme-level processes were found in the left SMA, pallidum, posterior superior temporal gyrus, and superior lateral cerebellum.