The Autisms

Molecules to Model Systems

Edited by Craig M. Powell and Lisa M. Monteggia

Covers the science of autism from clinical genetics to animal models
Beautifully illustrated with 4-color images throughout

The Autisms

Molecules to Model Systems

Edited by Craig M. Powell and Lisa M. Monteggia

Description

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.

The Autisms

Molecules to Model Systems

Edited by Craig M. Powell and Lisa M. Monteggia

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

The Autisms

Molecules to Model Systems

Edited by Craig M. Powell and Lisa M. Monteggia

Author Information

Edited by Craig M. Powell, Assistant Professor in the Neurology and Psychiatry departments, Graduate School of Biomedical Sciences at Southwestern Medical School, US, and Lisa M. Monteggia, Assistant Professor in the Psychiatry department, Graduate School of Biomedical Sciences at Southwestern Medical School, US

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.

Contributors:

Megumi Adachi
Department of Psychiatry
The University of Texas Southwestern Medical Center
Dallas, TX

Claudia Bagni
Center for Human Genetics
Katholieke Universiteit Leuven;
Department of Molecular and Developmental Genetics
Flanders Institute for Biotechnology
Leuven, Belgium;
Department of Experimental Medicine and Biochemical Sciences
University Tor Vergata
Rome, Italy

Antony A. Boucard, Ph.D.
Department of Molecular & Cellular Physiology
Stanford University School of Medicine
Stanford, CA

Thomas Bourgeron
Human Genetics and Cognitive Functions
Institut Pasteur;
University Denis Diderot
Paris, France

Joseph D. Buxbaum, PhD
Seaver Autism Center for Research and Treatment
Departments of Psychiatry, Neuroscience, and Genetics and Genomic Sciences
The Friedman Brain Institute
Mount Sinai School of Medicine, New York, NY

Gaston Calfa, PhD
Department of Neurobiology
The University of Alabama at Birmingham
Birmingham, AL

C. Sue Carter, PhD
The Brain Body Center
Department of Psychiatry
University of Illinois at Chicago
Chicago, IL

Richard Delorme
Human Genetics and Cognitive Functions
Institut Pasteur;
Service de Psychopathologie de l'Enfant et de l'Adolescent
Hôpital Robert Debré
Assistance Publique-Hôpitaux de Paris
Paris, France

Dan Ehninger
German Center for Neurodegenerative Diseases in the Helmholtz Association
Bonn, Germany

Daniel H. Geschwind
Program in Neurogenetics
Department of Neurology
David Geffen School of Medicine;
Center for Autism Research and Treatment and Center for Neurobehavioral Genetics
Semel Institute for Neuroscience and Human Behavior
University of California, Los Angeles
Los Angeles, CA

John D. Herrington, PhD
University of Pennsylvania School of Medicine
Philadelphia, PA

Lisa Joseph

Suma Jacob, MD, PhD
Institute of Juvenile Research
University of Illinois at Chicago
Chicago, IL

Eric Klann
Center for Neural Science
New York Univeristy
New York, NY

Genevieve Konopka
Department of Neurology
University of California, Los Angeles
Los Angeles, CA

Jean-Marie Launay
Service de Psychopathologie de l'Enfant et de l'Adolescent
Hôpital Robert Debré
Assistance Publique-Hôpitaux de Paris ;
Service de Biochimie
Hopital Lariboisière
Assistance Publique-Hopitaux de Paris
Paris, France

Ryan Lee, MD
Department of Neurology and Developmental Medicine
Center for Genetic Disorders of Cognition and Behavior
Kennedy Krieger Institute
Baltimore, MD

Lisa M. Monteggia, PhD
Department of Psychiatry
Neuroscience Graduate Program
The University of Texas Southwestern Medical Center
Dallas, TX

Cécile Pagan
Human Genetics and Cognitive Functions
Institut Pasteur;
University Paris Descartes
Paris, France

Sarah J. Patterson, PhD
Center for Autism Research
Department of Pediatrics
Children's Hospital of Philadelphia
Philadelphia, PA

Richard Paylor
Departments of Molecular and Human Genetics, and Neuroscience
Baylor College of Medicine
Houston TX

Olga Peñagarikano
Program in Neurogenetics
Department of Neurology
David Geffen School of Medicine
Univerity of California, Los Angeles
Los Angeles, CA

Alan K. Percy, MD
Departments of Neurobiology, Pediatrics, Neurology and Genetics
Civitan International Research Center
The University of Alabama at Birmingham
Birmingham, AL

Craig M. Powell, MD, PhD
Departments of Neurology & Neurotherapeutics and Psychiatry
The University of Texas Southwestern Medical Center
Dallas, TX

Lucas Pozzo-Miller, PhD
Department of Neurobiology
The University of Alabama at Birmingham
Birmingham, AL

Geeta Sarphare, PhD
Department of Psychiatry
Center for Genetic Disorders of Cognition and Behavior
Kennedy Krieger Institute;
Department of Psychiatry and Behavioral Sciences
Johns Hopkins University School of Medicine
Baltimore, MD

Carolyn Schanen
Department of Biological Sciences
University of Delaware
Newark, DE;
Nemours Biomedical Research
Alfred I duPont Hospital for Children
Wilmington, DE

Alcino J. Silva
Departments of Neurobiology, Psychiatry & Biobehavioral Sciences
Psychology and the Brain Research Institute
University of California - Los Angeles
Los Angeles, CA

Mikle South, PhD
Neuroscience Center
Brigham Young University
Provo, UT

Sarah Spence

Corinne M. Spencer
Departments of Molecular and Human Genetics, and Neuroscience
Baylor College of Medicine
Houston TX

Alexia M. Thomas
Departments of Molecular and Human Genetics, and Neuroscience
Baylor College of Medicine
Houston TX

Elaine Tierney, MD
Department of Psychiatry
Center for Genetic Disorders of Cognition and Behavior
Kennedy Krieger Institute;
Department of Psychiatry and Behavioral Sciences
Johns Hopkins University School of Medicine
Baltimore, MD

Audrey Thurm

Surabi Veeraragavan
Departments of Molecular and Human Genetics, and Neuroscience
Baylor College of Medicine
Houston TX

Edwin J. Weeber, Ph.D.
Molecular Pharmacology and Biophysics
USF Health Byrd Alzheimer's Research Institute
University of South Florida
Tampa, FL

David J. Wu
Department of Biological Sciences
University of Delaware
Newark, DE

The Autisms

Molecules to Model Systems

Edited by Craig M. Powell and Lisa M. Monteggia

Reviews and Awards

"This fascinating new book written by leaders in the field is a must read for scientists and physicians interested in the autistic disorders. I highly recommend it." - Doody's Notes, May 2013