The Autisms Molecules to Model Systems

The science of autism has seen tremendous breakthroughs in the past few decades. A multitude of relatively rare mutations have been identified to explain around 15 % of autism cases with many of these genetic causes systematically examined in animal models. This marriage of human genetics and basic neurobiology has led to major advances in our understanding of how these genetic mutations alter brain function and help to better understand the human disease. These scientific approaches are leading to the identification of potential therapeutic targets for autism that can be tested in the very same genetic models and hopefully translated into novel, rational therapies. The Autisms: Molecules to Model Systems provides a roadmap to many of these genetic causes of autism and clarifies what is known at the molecular, cellular, and circuit levels. Focusing on tractable genetic findings in human autism and painstakingly dissecting the underlying neurobiology, the book explains, is the key to understanding the pathophysiology of autism and ultimately to identifying novel treatments.

1. Introduction; Craig M. Powell & Lisa M. Monteggia; 2. Autism and Autism Spectrum Disorders: Clinical Overview; Lisa Joseph, Sarah Spence & Audrey; 3. Neuroimaging in Autism Spectrum Disorders Human Imaging; Mikle South, John D. Herrington, Sarah J. Patterson; 4. An overview of the genetics of autism spectrum disorders; Joseph D. Buxbaum; 5. Rett syndrome: On Clinical and Genetic Features, and Experimental Models based on Mecp2 dysfunction; Gaston Calfa, Alan K. Percy and Lucas Pozzo-Miller; 6. Mecp2 Knockout in mouse models of Rett syndrome; Megumi Adachi and Lisa M. Monteggia; 7. Putting into perspective the use of the Fmr1 KO mouse as a model for autism spectrum disorder; Richard Paylor; 8. Molecular functions of the mammalian fragile X mental retardation protein: Insights into mental retardation and synaptic plasticity; Claudia Bagni & Eric Klann; 9. Tuberous Sclerosis and Autism; Dan Ehninger and Alcino J. Silva; 10. PTEN and autism with macrocephaly; Craig M. Powell; 11. SHANK gene family and autism; Craig M. Powell; 12. Smith-Lemli-Opitz Syndrome and Role of Cholesterol in Autism; Geeta Sarphare, Ryan Lee, and Elaine Tierney; 13. Angelman Syndrome; Edwin J. Weeber; 14. Neuroligins and neurexins: Bridging the synaptic cleft in autism; Craig M. Powell & Antony A. Boucard; 15. Alterations of the serotonin-melatonin pathway in autism spectrum disorders: Biological evidence and clinical consequences; Cecile Pagan, Richard Delorme, Jean-Marie Launay, Thomas Bourgeron; 16. CNTNAP2 and autism spectrum disorders; Olga Penagarikano & Daniel H. Geschwind; 17. Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders; David J. Wu and Carolyn Schanen; 18. Oxytocin and vasopressin: Mechanisms for potential sex differences observed in ASD; C. Sue Carter & Suma Jacob; 19. FOXP2: Linking language and autism; Genevieve Konopka

Craig M. Powell, M.D., Ph.D. is a Neurologist and Neuroscientist interested in the molecular, cellular, and circuit-level mechanisms underlying cognitive function and cognitive dysfunction in disorders such as autism and intellectual disability. Dr. Powell has been integrally involved in understanding brain abnormalities in genetic animal models of autism based on mutations in autism-associated genes such as SHANK3, neuroligins, neurexins, and PTEN. His work integrates multiple approaches to understanding how genetic mutations lead to altered neuronal function and altered circuit function to cause the behavioral symptoms of autism. His work has identified potential therapeutic targets for autism using such models. Lisa M. Monteggia, PhD is the Ginny and John Eulich Professor in Autism Spectrum Disorders, and Associate Professor of Psychiatry, at University of Texas Southwestern Medical Center in Dallas. Dr. Monteggia's research interests focus on the molecular and cellular basis of neural plasticity as it pertains to psychiatric disorders. She utilizes molecular, cellular, behavioral, biochemical and electrophysiological approaches to elucidate how specific genes may contribute to psychiatric disorders in animal models, specifically focusing on better understanding Rett Syndrome/Autism and depression. Once these mechanisms are understood, treatments can be developed to target specific molecular pathways for therapeutic advances.