Published in

Society for Neuroscience, Journal of Neuroscience, 45(30), p. 14943-14945, 2010

DOI: 10.1523/jneurosci.3728-10.2010

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Down Syndrome: From Understanding the Neurobiology to Therapy

Journal article published in 2010 by Katheleen Gardiner, Yann Herault ORCID, Ira T. Lott, Stylianos E. Antonarakis, Roger H. Reeves, Mara Dierssen
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Down syndrome (DS) is the most common example of a neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of human chromosome 21 producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. Understanding the consequences of dosage imbalance attributable to trisomy 21 (T21) has accelerated because of recent advances in genome sequencing, comparative genome analysis, functional genome exploration, and the use of model organisms. This has led to new evidence-based therapeutic approaches to prevention or amelioration of T21 effects on brain structure and function (cognition) and has important implications for other areas of research on the neurogenomics of cognition and behavior.