COVID-19 Update: We are currently shipping orders daily. However, due to transit disruptions in some geographies, deliveries may be delayed. To provide all customers with timely access to content, we are offering 50% off Science and Technology Print & eBook bundle options. Terms & conditions.
Fragile X Syndrome - 1st Edition - ISBN: 9780128044612, 9780128045077

Fragile X Syndrome

1st Edition

From Genetics to Targeted Treatment

Editors: Rob Willemsen Frank Kooy
Hardcover ISBN: 9780128044612
eBook ISBN: 9780128045077
Imprint: Academic Press
Published Date: 26th May 2017
Page Count: 498
Sales tax will be calculated at check-out Price includes VAT/GST
Price includes VAT/GST

Institutional Subscription

Secure Checkout

Personal information is secured with SSL technology.

Free Shipping

Free global shipping
No minimum order.


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)

Key Features

  • Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome
  • Written for academic researchers, pharmaceutical investigators, and clinicians in the field
  • Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome
  • Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians


Researchers and clinical practitioners in neuroscience, neurology, pharmacology, genetics and genetic counseling

Table of Contents

Clinics, diagnosis, epidemiology, molecular mechanisms and models
1. The Clinical Phenotype of the Fragile X Syndrome and Related Disorders
2. Fragile X Syndrome Genetics
3. Molecular Diagnostics and Genetic Counseling in Fragile X syndrome and FMR1 associated disorders
4. Epidemiology of Fragile X Syndrome
5. Mechanisms of repeat instability in Fragile X Syndrome
6. Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells
7. Animal models - drosophila, mouse, rat and zebrafish

Pathways Involved
8. RNA and protein targets of FMRP
9. The mGluR Theory of Fragile X from Mice to Men
10. The GABAergic System contributions to the Fragile X Syndrome Phenotype
11. Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics
12. The Endocannabinoid System in Fragile X Syndrome
13. Glycogen synthase kinase-3: Abnormalities and therapeutic potential in Fragile X syndrome
14. Defects in Rho GTPase signaling to the spine actin cytoskeleton in FMR1 knockout mice
15. Matrix Metalloproteinases in Fragile X Syndrome
16. Ion channel dysfunction and FXS
17. Reactivation of FMR1 gene

Clinical trials
18. Drug discovery for targeted pharmacotherapy of Fragile X Syndrome
19. Overview of targeted double blind, placebo controlled clinical trials in Fragile X Syndrome
20. Reflections on Clinical trials in Fragile X syndrome
21. Toward better outcome measures in clinical trials
22. Fragile X Research from a Parental Perspective


No. of pages:
© Academic Press 2017
26th May 2017
Academic Press
Hardcover ISBN:
eBook ISBN:

About the Editors

Rob Willemsen

Dr. Willemsen is a Professor for Functional Neurogenetics in the Department of Clinical Genetics at Erasmus University Medical Center in Rotterdam, the Netherlands. He is a leader in the development and characterization of genetic animal models for FXS (mouse and zebrafish). His research group has been involved in the understanding of the molecular basis of FXS and currently his group is focused on experimental approaches towards therapeutic intervention for FXS. The first avenue of research has resulted in several knockout mice for the Fmr1 gene, including conditional knockout, that are now used worldwide as the standard in (pre-clinical and fundamental research) studies for FXS.

Affiliations and Expertise

Department of Clinical Neurogenetics, Erasmus University Medical Center, Rotterdam, The Netherlands

Frank Kooy

Dr. Frank Kooy is Professor in Cognitive Genetics at Department of Medical Genetics of the University of Antwerp. His research successfully focusses on the identification of genetic causes of cognitive disorders, such as intellectual disability and autism and to study the defective genes with the ultimate goal of developing rational therapies. He has been involved in research on multiple aspects of the Fragile X Syndrome research for two decades.

Affiliations and Expertise

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium

Ratings and Reviews