The Molecular Basis of Autism PDF
Preview The Molecular Basis of Autism
Contemporary Clinical Neuroscience For further volumes: http://www.springer.com/series/7678 S. Hossein Fatemi Editor The Molecular Basis of Autism 1 3 Editor S. Hossein Fatemi M.D., Ph.D., FACPsych Professor, Departments of Psychiatry and Neuroscience MMC 392 University of Minnesota Medical School Minneapolis Minnesota USA Contemporary Clinical Neuroscience ISBN 978-1-4939-2189-8 ISBN 978-1-4939-2190-4 (eBook) DOI 10.1007/978-1-4939-2190-4 Springer New York Heidelberg Dordrecht London Library of Congress Control Number: 2015931385 © Springer Science+Business Media New York 2015 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) To my father, S. Mehdi Fatemi, and to my family, S. Ali Fatemi, M.D., Naheed Fatemi, Parvin Fatemi, S. Mohammad Fatemi, Neelufaar Fatemi, Maryam Jalali-Mousavi, and my mother, Fatemeh Fatemi Foreword The book entitled “The Molecular Basis of Autism” has brought together over 40 autism experts to combine their expertise in defining the biological basis of this se- vere neurodevelopmental disorder. The book comprehensively describes the latest research on the roles of potential biomarkers (i.e., oxytocin, neurexins, and neuro- ligins) and classical neurotransmitter systems (i.e., γ-aminobutyric acid (GABA), glutamate, dopamine, acetylcholine, and serotonin) as well as the epidemiology, genetics and epigenetics of autism. Its overall importance may lie in the descrip- tion of emerging findings related to potential novel treatments and biologically based diagnostic methods. For example, deficits in GABAergic and glutamatergic signaling have been replicated in human and animal experiments. Aberrations in glutamatergic transmission are also described, for instance the increased levels of metabotropic glutamate receptor 5 (mGluR5) that have been observed in subjects with idiopathic autism as well as fragile X syndrome (FXS), and also in a mouse model of FXS. These findings might open new avenues for therapeutic intervention such as the use of modulators for mGluR5. In conclusion, I believe that this collec- tion of chapters will be important to the field of psychiatry as well as neurology, neuroscience, and pharmacology. Arvid Carlsson, MD, PhD Göteborg, Sweden vii Preface Autism is a major, debilitating neurodevelopmental disorder with shared genetic and environmental etiologies and a rising prevalence. Since the initial discovery of this disorder by Leo Kanner, there has been an explosion of new knowledge about its etiopathogenesis. The Molecular Basis of Autism provides the current state of knowledge about the etiology and treatment of this disorder. In the following twenty chapters, various contributors present up-to-date discussions of the state of knowledge on important aspects of autism. In part one of the book, chapters cover clinical topics of interest such as history of discovery of autism, diagnostic features, epidemiology, genetics, epigenetics, immunology, neuroimaging, neuropathology, pharmacology and behavioral treatment modalities. In part two, chapters deal with involvement of a number of neurotransmitters, proteins, and brain markers that may influence etiopathogenesis of autism such as dopamine, glutamate, serotonin, oxy- tocin, vasopressin, acetylcholine, Reelin, gamma-aminobutyric acid (GABA), frag- ile X mental retardation protein (FMRP), neurexins and neuroligins, neurotrophins, as well as novel mechanisms of disease production such as cognition and motor control and oxidative stress and mitochondrial dysfunction in causation of autism. It is hoped that this timely collection of chapters will provide a comprehensive guide for scientists and clinicians regarding the biology of this disorder. S. Hossein Fatemi, MD, PhD, FACPsych Minneapolis, Minnesota ix Acknowledgments I am most grateful to Professor Mario Manto for the original proposal to edit this book. I am especially indebted to Mr. Timothy D. Folsom and Ms. Jennifer M. Bredemeier for help with various aspects of editing this book. I am also grateful to the authors who have generously given their valuable time to write the various chapters in this book. Finally, I am thankful to Ms. Simina Calin, Mr. Kevin Wright, Mr. Jacob Rosati, and Ms. Nikita Dhiwar of Springer for the excellent job in publishing this book. S. Hossein Fatemi, MD, PhD, FACPsych Minneapolis, Minnesota xi Contents Part I Clinical Aspects of Autism 1 A Brief History of Autism .......................................................................... 3 Fred R. Volkmar 2 Autism Spectrum Disorder: Diagnostic Considerations ........................ 15 Goerge M. Realmuto 3 Epidemiologic Features of Autism Spectrum Disorders ........................ 23 R. S. Kirby 4 G enetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics Clinic ....................................................... 33 Yi Wang, Ping Wang, Xiu Xu, Jennifer Goldstein, Allyn McConkie, Sau W. Cheung and Yong-hui Jiang 5 Epigenetic Regulation in Autism .............................................................. 67 Cyril J. Peter, Abraham Reichenberg and Schahram Akbarian 6 Immunology of Autism .............................................................................. 93 Destanie R. Rose and Paul Ashwood 7 Neuroimaging in Autism Spectrum Disorders ........................................ 117 Danielle Baribeau and Evdokia Anagnostou 8 The Neuropathology of Autism ................................................................. 153 Manuel F. Casanova 9 Pharmacology of Autism Spectrum Disorder .......................................... 173 Donald E. Greydanus, Gabriel Kaplan and Dilip R. Patel 10 Behavioral Therapies ................................................................................. 195 V. Mark Durand xiii xiv Contents Part II Basic Science Aspects of Autism 11 Autism and Dopamine................................................................................ 213 Guy Mittleman and Charles D. Blaha 12 Autism and Glutamate ............................................................................... 243 Maria L. Carlsson 13 Serotonin in Autism Spectrum Disorder: Insights from Human Studies and Animal Models ......................................................... 257 Natalia Benza and Diane C. Chugani 14 Oxytocin and Vasopressin in Autism and Genetic Syndromes .............. 275 Tal Levin-Decanini, Sunday M. Francis, Angela Sagar, Wensheng Liu, C. Sue Carter and Suma Jacob 15 Molecular Basis of Cholinergic Changes in Autism Spectrum Disorders and Relevance for Treatment Interventions ......... 307 Elizabeta B. Mukaetova-Ladinska and Elaine K. Perry 16 Reelin, GABA, FMRP, and Autism .......................................................... 337 Timothy D. Folsom and S. Hossein Fatemi 17 The Role of Neurexins and Neuroligins in Autism .................................. 361 Amy C. Reichelt and James Dachtler 18 Neurotrophins, Their Receptors and Autism: Ligand vs. Receptor Abnormalities .......................................................... 383 Elizabeth M. Sajdel-Sulkowska 19 Cognition, Motor Control and Other Aspects of Autism: A Pragmatic Review ................................................................................... 393 James W. Howell and Detlef H. Heck 20 Increased Vulnerability to Oxidative Stress and Mitochondrial Dysfunction in Autism .............................................. 407 Abha Chauhan and Ved Chauhan Index .................................................................................................................. 427
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