Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

ISBN-13: 9780128001097 / Angielski / Twarda / 2016 / 394 str.

Carlo Sala; Chiara Verpelli

Opis

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms.

• Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities
• Describes the genes implicated in autistic spectrum disorders and their function
• Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies
• Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture

Spis treści

Part 1. Autism spectrum disorders and Intellectual disability: Genetic and Non-Genetic Causes 1. Experimental tools for the identification of specific genes in autism spectrum disorders and intellectual disability - Yiping Shen and Xiaohong Gong 2. Genetic causes of autism spectrum disorders - Guillaume Huguet and Thomas Bourgeron 3. Genetics of X-linked intellectual disability - Luigi Boccuto and Charles E. Schwartz 4. Genetic causes of intellectual disability: the genes controlling cortical development - Yoann Saillour and Jamel Chelly 5. Immune Dysfunction in Autism Spectrum Disorder - Natalia V. Malkova and Elaine Y. Hsiao

Part 2. Function of Mutated Genes in Intellectual Disability (ID) and Autism 6. Synapse proteomes and disease: the MASC paradigm - Àlex Bayés and Seth GN Grant 7. The Function of MeCP2 and its Causality in Rett Syndrome - Janine Lamonica and Zhaolan Zhou 8. FMRP and the pathophysiology of fragile X syndrome - Stephanie A. Barnes, Sophie R. Thompson, Peter C. Kind and Emily K. Osterweil 9. X-linked ASDs and ID gene mutations - Edoardo Moretto, Maria Passafaro and Silvia Bassani 10. Shank3, Shank2, Shank1 mutations in ID and ASD - Chiara Verpelli and Michael J. Schmeisser 11. Mutations in synaptic adhesion molecules - Jaewon Ko, Caterina Montani, Carlo Sala and Eunjoon Kim 12. CNTNAP2 mutations in autism - Olga Peñagarikano 13. Planar cell polarity (PCP) gene mutations in Autism Spectrum Disorder, Intellectual Disabilities and Related Deletion/Duplication Syndromes - Nathalie Sans, Jérôme Ezan, Maité M. Moreau and Mireille Montcouquiol 14. Protocadherin mutations in neurodevelopmental disorders - Duyen Pham, Chuan Tan, Claire Homan, Lachlan Jolly and Jozef Gécz 15. Mutations of voltage-gated sodium channel genes SCN1A and SCN2A in epilepsy, intellectual disability, and autism - Kazuhiro Yamakawa 16. Oxytocin in the developing brain: relevance as disease-modifying treatment in autism spectrum disorders - Bice Chini, Marianna Leonzino and Valentina a Gigliucci

Part 3. Experimental Models, Clinicaland Pharmacological Aspects of Major ASDs and Intellectual Disability Syndromes 17. Mouse Behaviour and Models for Autism Spectrum Disorders - Maria Luisa Scattoni 18. The iPSC technology to study neurodevelopmental disorders - Alysson Renato Muotri 19. Rett syndrome: clinical aspects - Daniel Tarquinio and Alan K. Percy 20. Fragile-x syndrome - Elizabeth Berry-Kravis and Anne Hoffmann 21. Phelan-McDermid syndrome: clinical aspects - Katy Phelan, Luigi Boccuto and Sara Sarasua 22. Epilepsy associated with ASD and intellectual disability - Carla Marini