Down Syndrome : from Understanding the Neurobiology to Therapy

Başlık:

ISBN:

9780444542991

9780444543004

9781280581649

Yayın Bilgileri:

Amsterdam : Elsevier, 2012.

Fiziksel Tanımlama:

1 online resource (vii, 262 pages) : illustrations.

Series:

Progress in brain research, vol. 197

Progress in brain research ; v. 197.

Contents:

Ch. 1. Therapeutic approaches in the improvement of cognitive performance in Down syndrome: past, present, and future / R. de la Torre and M. Dierssen -- Ch. 2. Genomic determinants in the phenotypic variability of Down syndrome / A. Letourneau and S.E. Antonarakis -- Ch. 3. Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario / B. Bardoni [and others] -- Ch. 4. Aberrant epigenetic landscape in intellectual disability / J.V. Sanchez-Mut, D. Huertas and M. Esteller -- Ch. 5. Pathways to cognitive deficits in Down syndrome / X. Sturgeon [and others] -- Ch. 6. Neurological phenotypes for Down syndrome across the life span / I.T. Lott -- Ch. 7. Human and mouse model cognitive phenotypes in Down syndrome: implications for assessment / J.O. Edgin [and others] -- Ch. 8. Perturbation of dendritic protrusions in intellectual disability / J. Levenga and R. Willemsen -- Ch. 9. The in vivo Down syndrome genomic library in mouse / Y. Herault [and others] -- Ch. 10. Discoveries in Down syndrome: moving basic science to clinical care -- A.M. Kleschevnikov [and others] -- Ch. 11. A Sonic hedgehog (Shh) response deficit in trisomic cells may be a common denominator for multiple features of Down syndrome / D.G. Currier, R.C. Polk and R.H. Reeves -- Ch. 12. Gene therapy for Down syndrome / C. Fillat and X. Altafaj.

Abstract:

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. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It 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 DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future researchChapters are extensively referenced to provide readers with a comprehensive list of resources on the topics coveredAll chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist.

Local Note:

Elsevier

Subject Term:

Down syndrome.

Developmental neurobiology.

Neurobiology.

Down Syndrome -- genetics

Down Syndrome -- therapy

Neurobiology

Down Syndrome

Syndrome de Down.

Neurologie du développement.