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Nat Rev Neurosci. 2012 Dec;13(12):844-58. doi: 10.1038/nrn3314.

Down syndrome: the brain in trisomic mode.

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Genes and Disease Programme, Centre for Genomic Regulation (CRG), Universitat Pompeu Fabra, Centro de Investigación Biomédica en Red de Enfermedades Raras, E-08003 Barcelona, Spain.


Down syndrome is the most common form of intellectual disability and results from one of the most complex genetic perturbations that is compatible with survival, trisomy 21. The study of brain dysfunction in this disorder has largely been based on a gene discovery approach, but we are now moving into an era of functional genome exploration, in which the effects of individual genes are being studied alongside the effects of deregulated non-coding genetic elements and epigenetic influences. Also, new data from functional neuroimaging studies are challenging our views of the cognitive phenotypes associated with Down syndrome and their pathophysiological correlates. These advances hold promise for the development of treatments for intellectual disability.

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