Fragile X Syndrome. From Genetics to Targeted Treatment

Description

Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. Content: Front matter,Copyright,Contributors,Foreword,PrefaceEntitled to full textSection I: Clinics, Diagnosis, Epidemiology, Molecular Mechanisms, and ModelsChapter 1 - The Clinical Phenotype of the Fragile X Syndrome and Related Disorders, Pages 1-16, Giovanni Neri Chapter 2 - Fragile X Syndrome Genetics, Pages 19-39, David L. Nelson, Michael R. Santoro, Stephen T. Warren Chapter 3 - Molecular Diagnostics and Genetic Counseling in Fragile X Syndrome and FMR1-Associated Disorders, Pages 41-55, Flora Tassone, Montserrat Milà Chapter 4 - Epidemiology of Fragile X Syndrome, Pages 57-76, Stephanie L. Sherman, Jessica E. Hunter Chapter 5 - Mechanisms of Repeat Instability in Fragile X Syndrome, Pages 77-102, Karen Usdin, Inbal Gazy, Xiao-Nan Zhao Chapter 6 - Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells, Pages 103-121, Dan Vershkov, Tamir Ben-Hur, Nissim Benvenisty Chapter 7 - Animal Models of Fragile X Syndrome, Pages 123-147, R. Frank Kooy, Peng Jin, Han Bao, Sally Till, Peter Kind, Rob Willemsen Chapter 8 - RNA and Protein Targets of FMRP, Pages 151-171, Joshua Suhl, Charles Hoeffer Chapter 9 - The mGluR Theory of Fragile X: From Mice to Men, Pages 173-204, Laura J. Stoppel, Emily K. Osterweil, Mark F. Bear Chapter 10 - The GABAergic System Contributions to the Fragile X Syndrome Phenotype, Pages 205-215, Molly M. Huntsman, R. Frank Kooy Chapter 11 - Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics, Pages 217-239, Christina Gross, Aditi Bhattacharya Chapter 12 - The Endocannabinoid System in Fragile X Syndrome, Pages 241-259, Henry G.S. Martin, Daniela Neuhofer, Olivier J.J. Manzoni Chapter 13 - Glycogen Synthase Kinase-3: Abnormalities and Therapeutic Potential in Fragile X Syndrome, Pages 261-275, Richard S. Jope Chapter 14 - Defects in Rho GTPase Signaling to the Spine Actin Cytoskeleton in FMR1 Knockout Mice, Pages 277-299, Julie C. Lauterborn, Christine M. Gall Chapter 15 - Matrix Metalloproteinases in Fragile X Syndrome, Pages 301-322, Douglas W. Ethell, Harpreet Sidhu Chapter 16 - Ion Channel Dysfunction and FXS, Pages 323-340, Andreas Frick, Melanie Ginger, Lynda El-Hassar, Leonard K. Kaczmarek Chapter 17 - Reactivation of the FMR1 Gene, Pages 341-360, Elisabetta Tabolacci, Pietro Chiurazzi Chapter 18 - Drug Discovery for Targeted Pharmacotherapy of Fragile X Syndrome, Pages 363-399, Sebastian S. Scharf, Fabrizio Gasparini, Will Spooren, Lothar Lindemann Chapter 19 - Overview of Targeted Double-Blind, Placebo-Controlled Clinical Trials in Fragile X Syndrome, Pages 401-418, Andrew Ligsay, Randi Hagerman, Elizabeth Berry-Kravis Chapter 20 - Reflections on Clinical Trials in Fragile X Syndrome, Pages 419-441, Aia E. Jønch, Sébastien Jacquemont Chapter 21 - Outcome Measures in Clinical Trials for Fragile X Syndrome: The Search for Sensitive Neurocognitive Assays, Pages 443-455, Jacalyn Guy, Gaia Scerif Chapter 22 - Fragile X Research From a Parental Perspective, Pages 457-470, Jörg Richstein, Jeffrey Cohen, Becky Hardiman Index, Pages 471-484