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.
“This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review “fragile X research from a parental perspective, which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research…This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials…In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients. - European Journal of Human Genetics (September 2018)
1. Cover - p. i 2. Title page - p. iii 3. Table of Contents - p. iii 4. Copyright - p. ii 5. Contributors - p. iv 6. Foreword - p. x 7. Preface - p. xii 8. Section I: Clinics, Diagnosis, Epidemiology, Molecular Mechanisms, and Models - p. xiv 9. Chapter 1: The Clinical Phenotype of the Fragile X Syndrome and Related Disorders - p. xiv 10. Chapter 2: Fragile X Syndrome Genetics - p. 18 11. Chapter 3: Molecular Diagnostics and Genetic Counseling in Fragile X Syndrome and FMR1-Associated Disorders - p. 39 12. Chapter 4: Epidemiology of Fragile X Syndrome - p. 55 13. Chapter 5: Mechanisms of Repeat Instability in Fragile X Syndrome - p. 76 14. Chapter 6: Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells - p. 102 15. Chapter 7: Animal Models of Fragile X Syndrome - p. 121 16. Section II: Pathways Involved - p. 147 17. Chapter 8: RNA and Protein Targets of FMRP - p. 147 18. Chapter 9: The mGluR Theory of Fragile X: From Mice to Men - p. 171 19. Chapter 10: The GABAergic System Contributions to the Fragile X Syndrome Phenotype - p. 204 20. Chapter 11: Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics - p. 215 21. Chapter 12: The Endocannabinoid System in Fragile X Syndrome - p. 239 22. Chapter 13: Glycogen Synthase Kinase-3: Abnormalities and Therapeutic Potential in Fragile X Syndrome - p. 259 23. Chapter 14: Defects in Rho GTPase Signaling to the Spine Actin Cytoskeleton in FMR1 Knockout Mice - p. 275 24. Chapter 15: Matrix Metalloproteinases in Fragile X Syndrome - p. 299 25. Chapter 16: Ion Channel Dysfunction and FXS - p. 322 26. Chapter 17: Reactivation of the FMR1 Gene - p. 340 27. Section III: Clinical Trials - p. 360 28. Chapter 18: Drug Discovery for Targeted Pharmacotherapy of Fragile X Syndrome - p. 360 29. Chapter 19: Overview of Targeted Double-Blind, Placebo-Controlled Clinical Trials in Fragile X Syndrome - p. 399 30. Chapter 20: Reflections on Clinical Trials in Fragile X Syndrome - p. 418 31. Chapter 21: Outcome Measures in Clinical Trials for Fragile X Syndrome: The Search for Sensitive Neurocognitive Assays - p. 441 32. Chapter 22: Fragile X Research From a Parental Perspective - p. 455 33. Index - p. 470
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.
“This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review “fragile X research from a parental perspective, which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research…This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials…In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients. - European Journal of Human Genetics (September 2018)
1. Cover - p. i 2. Title page - p. iii 3. Table of Contents - p. iii 4. Copyright - p. ii 5. Contributors - p. iv 6. Foreword - p. x 7. Preface - p. xii 8. Section I: Clinics, Diagnosis, Epidemiology, Molecular Mechanisms, and Models - p. xiv 9. Chapter 1: The Clinical Phenotype of the Fragile X Syndrome and Related Disorders - p. xiv 10. Chapter 2: Fragile X Syndrome Genetics - p. 18 11. Chapter 3: Molecular Diagnostics and Genetic Counseling in Fragile X Syndrome and FMR1-Associated Disorders - p. 39 12. Chapter 4: Epidemiology of Fragile X Syndrome - p. 55 13. Chapter 5: Mechanisms of Repeat Instability in Fragile X Syndrome - p. 76 14. Chapter 6: Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells - p. 102 15. Chapter 7: Animal Models of Fragile X Syndrome - p. 121 16. Section II: Pathways Involved - p. 147 17. Chapter 8: RNA and Protein Targets of FMRP - p. 147 18. Chapter 9: The mGluR Theory of Fragile X: From Mice to Men - p. 171 19. Chapter 10: The GABAergic System Contributions to the Fragile X Syndrome Phenotype - p. 204 20. Chapter 11: Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics - p. 215 21. Chapter 12: The Endocannabinoid System in Fragile X Syndrome - p. 239 22. Chapter 13: Glycogen Synthase Kinase-3: Abnormalities and Therapeutic Potential in Fragile X Syndrome - p. 259 23. Chapter 14: Defects in Rho GTPase Signaling to the Spine Actin Cytoskeleton in FMR1 Knockout Mice - p. 275 24. Chapter 15: Matrix Metalloproteinases in Fragile X Syndrome - p. 299 25. Chapter 16: Ion Channel Dysfunction and FXS - p. 322 26. Chapter 17: Reactivation of the FMR1 Gene - p. 340 27. Section III: Clinical Trials - p. 360 28. Chapter 18: Drug Discovery for Targeted Pharmacotherapy of Fragile X Syndrome - p. 360 29. Chapter 19: Overview of Targeted Double-Blind, Placebo-Controlled Clinical Trials in Fragile X Syndrome - p. 399 30. Chapter 20: Reflections on Clinical Trials in Fragile X Syndrome - p. 418 31. Chapter 21: Outcome Measures in Clinical Trials for Fragile X Syndrome: The Search for Sensitive Neurocognitive Assays - p. 441 32. Chapter 22: Fragile X Research From a Parental Perspective - p. 455 33. Index - p. 470
