Down Syndrome: From Understanding the Neurobiology to Therapy

Brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved down syndrome treatments and cures

Mara Dierssen (Volume editor), Rafa de la Torre (Volume editor)

9780444542991, Elsevier Science

Hardback, published 10 May 2012

272 pages
23.4 x 19 x 2.2 cm, 0.74 kg

Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system.

1. Therapeutic approaches in the improvement of cognitive performance in Down syndrome: past, present and future

Rafael de la Torre and Mara Dierssen

2. Genomic determinants in the phenotypic variability of Down syndrome

Audrey Letourneau and Stylianos E. Antonarakis

3. Intellectual disabilities, neuronal post-transcriptional RNA-metabolism and RNA-binding proteins: three actors for a complex scenario

Barbara Bardoni, Sabiha Abekhoukh, Samantha Zongaro and Mireille Melko

4. Aberrant epigenetic landscape in mental retardation

Sanchez-Mut JV, Huertas D. and Esteller M.

5. Pathways to cognitive deficits in Down syndrome

Xiaolu Sturgeon, Thanh Le, Md. Mahiuddin Ahmed and Katheleen J. Gardiner

6. Neurological Phenotypes for Down Syndrome across the Lifespan

Ira T. Lott, MD

7. Human and mouse model cognitive phenotypes in Down syndrome: Implications for assessment

Jamie O. Edgin, Gina M. Mason, Goffredina Spanò, Andrea Fernández and Lynn Nadel

8. Perturbation of dendritic protrusions in intellectual disability

Josien Levenga and Rob Willemsen

9. The in vivo Down syndrome genomic library in mouse

Yann Herault, Arnaud Duchon, Emilie Velot, Damien Maréchal and Véronique Brault

10. Discoveries in Down Syndrome: Moving Basic Science to Clinical Care

A.M. Kleschevnikov, P.V. Belichenko, A. Salehi and C. Wu

11. A Sonic hedgehog (Shh) response deficit in trisomic cells may be a common denominator for multiple features of Down syndrome

Duane G. Currier, Renita C. Polk and Roger H. Reeves

12. Gene therapy for Down syndrome Cristina Fillat and Xavier Altafaj

Subject Areas: Neurosciences [PSAN], Genetics [non-medical PSAK], Mathematics & science [P], Neurology & clinical neurophysiology [MJN], Clinical & internal medicine [MJ]