Essential Pathways And Circuits Of Autism Pathogenesis
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Essential Pathways And Circuits Of Autism Pathogenesis
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Author :
language : en
Publisher:
Release Date : 2016
Essential Pathways And Circuits Of Autism Pathogenesis written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016 with categories.
The Centers for Disease Control and Prevention estimate that 1 in 68 children in the United states is afflicted with autism spectrum disorders (ASD), yet at this time, there is no cure for the disease. Autism is characterized by delays in the development of many basic skills, most notably the ability to socialize and adapt to novelty. The condition is typically identified in children around 3 years of age, however the high heritability of autism suggests that the disease process begins at conception. The identification of over 500 ASD risk genes, has enabled the molecular genetic dissection of the pathogenesis of the disease in model organisms such as mice. Despite the genetic heterogeneity of ASD etiology, converging evidence suggests that these disparate genetic lesions may result in the disruption of a limited number of key biochemical pathways or circuits. Classification of patients into groups by pathogenic rather than etiological categories, will likely aid future therapeutic development and clinical trials. In this set of papers, we explore the existing evidence supporting this view. Specifically, we focus on biochemical cascades such as mTOR and ERK signaling, the mRNA network bound by FMRP and UBE3A, dorsal and ventral striatal circuits, cerebellar circuits, hypothalamic projections, as well as prefrontal and anterior cingulate cortical circuits. Special attention will be given to studies that demonstrate the necessity and/or sufficiency of genetic disruptions (e.g. by molecular deletion and/or replacement) in these pathways and circuits for producing characteristic behavioral features of autism. Necessarily these papers will be heavily weighted towards basic mechanisms elucidated in animal models, but may also include investigations in patients.
Essential Pathways And Circuits Of Autism Pathogenesis
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Author : Gül Dölen
language : en
Publisher: Frontiers Media SA
Release Date : 2016-08-15
Essential Pathways And Circuits Of Autism Pathogenesis written by Gül Dölen and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-08-15 with Genetics categories.
The Centers for Disease Control and Prevention estimate that 1 in 68 children in the United states is afflicted with autism spectrum disorders (ASD), yet at this time, there is no cure for the disease. Autism is characterized by delays in the development of many basic skills, most notably the ability to socialize and adapt to novelty. The condition is typically identified in children around 3 years of age, however the high heritability of autism suggests that the disease process begins at conception. The identification of over 500 ASD risk genes, has enabled the molecular genetic dissection of the pathogenesis of the disease in model organisms such as mice. Despite the genetic heterogeneity of ASD etiology, converging evidence suggests that these disparate genetic lesions may result in the disruption of a limited number of key biochemical pathways or circuits. Classification of patients into groups by pathogenic rather than etiological categories, will likely aid future therapeutic development and clinical trials. In this set of papers, we explore the existing evidence supporting this view. Specifically, we focus on biochemical cascades such as mTOR and ERK signaling, the mRNA network bound by FMRP and UBE3A, dorsal and ventral striatal circuits, cerebellar circuits, hypothalamic projections, as well as prefrontal and anterior cingulate cortical circuits. Special attention will be given to studies that demonstrate the necessity and/or sufficiency of genetic disruptions (e.g. by molecular deletion and/or replacement) in these pathways and circuits for producing characteristic behavioral features of autism. Necessarily these papers will be heavily weighted towards basic mechanisms elucidated in animal models, but may also include investigations in patients.
Development Of The Cerebellum From Molecular Aspects To Diseases
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Author : Hassan Marzban
language : en
Publisher: Springer
Release Date : 2017-07-27
Development Of The Cerebellum From Molecular Aspects To Diseases written by Hassan Marzban and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-07-27 with Medical categories.
The authors present the most current and cutting-edge knowledge regarding the molecular basis of cerebellar development, focusing on information relevant to laboratory scientists and clinicians providing service to patients with cerebellar disorders. Knowledge obtained from advanced neuroimaging techniques that are used during development, and from molecular- and genetic-based studies has provided rapidly-growing evidence that the cerebellum is a brain region that is highly impacted by developmental defects. Cerebellar defects result in significant intellectual and motor function impairment that affects both the patients and their families.
Neural And Synaptic Defects In Autism Spectrum Disorders
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Author : Hansen Wang
language : en
Publisher: Frontiers Media SA
Release Date : 2015-07-07
Neural And Synaptic Defects In Autism Spectrum Disorders written by Hansen Wang and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-07-07 with Neurosciences. Biological psychiatry. Neuropsychiatry categories.
Autism spectrum disorders (ASDs) are a group of genetically and clinically heterogeneous neurodevelopmental disorders characterized by impaired reciprocal social interactions and communication, and restricted and repetitive patterns of behaviors and interests. Studies in genetics, neurobiology and systems biology are providing insights into the pathogenesis of ASDs. Investigation of neural and synaptic defects in ASDs not only sheds light on the molecular and cellular mechanisms that govern the function of the central nervous system, but may lead to the discovery of potential therapeutic targets for autism and other cognitive disorders. Our Research Topic which constitutes this e-book documents the recent development and ideas in the study of pathogenesis and treatment of ASDs, with an emphasis on syndromic disorders such as fragile X and Rett syndromes. In addition, model systems and methodological approaches with translational relevance to autism are covered herein. We hope that the Research Topic will enhance the global knowledge base in the autism research community and foster new research directions in autism related biology.
The Neurology Of Autism
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Author : Mary Coleman
language : en
Publisher: Oxford University Press
Release Date : 2009-04-23
The Neurology Of Autism written by Mary Coleman and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-04-23 with Psychology categories.
In Neurology of Autism, Mary Coleman, Catalina Betancur, G. Robert DeLong, Christopher Gillberg, Yoshiko Nomura, Lorenzo Pavone, Martin Ruggieri, and Michele Zappella use the tools of neurological analysis to address a number of the major questions that have arisen in the study of autism. The answers they present have important implications for the direction of future autism research, diagnosis, and treatment. What are the neurological signs and symptoms of autism? The latest information is presented here in an in-depth discussion of epilepsy, cranial circumference, changes in muscle tone, stereotypies, and mutism found in children with autism. In addition, a template is provided for practitioners to follow when conducting neurological examinations of a child with autism. What are the best options for the treatment of autism? The current medical, educational, and alternative therapies are thoroughly reviewed and evaluated. Is autism reversible? The question is explored for syndromic autism, where diseases may have a transient autistic phase, and reviewed in detail for nonsyndromic autism. Is autism primarily a single disease, as originally described by Leo Kanner? Research presented here suggests that autism is, instead, a syndrome involving many disease entities. Has the incidence of autism been increasing in recent years? A sophisticated, historical review of autisms prevalence rates suggests that it has never been rare. What is the relationship between autism and Asperger syndrome? The latest evidence presented here sheds light on the degree to which both syndromes share more than clinical characteristics; they also have some similar findings in imaging, neuropathological, and genetic studies. Which components of the brains neural networks need to be impaired to cause the appearance of autistic symptoms? Although there are many candidate regions, dysfunction of the cerebellum and its circuits is noted to be of great interest. Student and professional researchers, practitioners, and parents will find this book to be a valuable resource for both the latest information from basic-science research and its application to the diagnosis and treatment of autism. "[This book] includes up-to-date genetic evidence, underlining the complexities of genetic/environmental influences...I recommend this easy and informative read." -European Journal of Pediatric Neurology "...authoritative." -The Lancet Neurology "Coleman's new book is an absolute must-read for anyone interested in the progress made in understanding the causes of autism. The field owes her a tribute worthy of someone who has transformed an area of neuroscience." -Simon Baron-Cohen in Nature Neuroscience "[I]nformative and comprehensive in its treatment of the neurologic basis of autism...well written and easy to understand...the contributing authors have done an excellent job of making complex medical concepts understandable to all. The glossary at the end of the book is extremely helpful in this regard. The book is well referenced, provides helpful tables throughout, and includes a summary of relevant points at the end of each chapter.The authors are to be commended for presenting a very balanced view of current knowledge; they also indicate what we do not yet understand about brain functioning in autism and provide an important road map for ongoing exploration." -Marshalyn Yeargin-Allsopp in The New England Journal of Medicine "At last it is recognised that developmental neurology is the appropriate context in which to explain autism. The authors of this volume, all pioneers in the field, consider new ideas on autism in this context. They succeed in making surprising and illuminating comparisons between autism and neurological disorders whose origin is already known. This work is a significant step towards understanding the causes of autistic disorders."-Uta Frith, Institute of Cognitive Neuroscience and Department of Psychology, University College London "When and if the secret of autism is teased from the myriad disease states that exhibit the syndrome, it will be through efforts such as are represented in this volume. Dr. Coleman has 'picked the brains' of recognized experts from neurology and related sciences, and has assembled a wealth of up-to-date and meticulously referenced information regarding both those diseases and the core symptoms of autism." -Peter B. Rosenberger, Massachusetts General Hospital
Essential Concepts In Molecular Pathology
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Author : William B. Coleman
language : en
Publisher: Academic Press
Release Date : 2019-11-23
Essential Concepts In Molecular Pathology written by William B. Coleman and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-11-23 with Medical categories.
Essential Concepts in Molecular Pathology, Second Edition, offers an introduction to molecular genetics and the "molecular" aspects of human disease. The book illustrates how pathologists harness their understanding of these entities to develop new diagnostics and treatments for various human diseases. This new edition offers pathology, genetics residents, and molecular pathology fellows an advanced understanding of the molecular mechanisms of disease that goes beyond what they learned in medical and graduate school. By bridging molecular concepts of pathogenesis to the clinical expression of disease in cell, tissue and organ, this fully updated, introductory reference provides the background necessary for an understanding of today's advances in pathology and medicine. - Explains the practice of "molecular medicine" and the translational aspects of molecular pathology, including molecular diagnostics, molecular assessment and personalized medicine - Orients non-pathologists on what pathologists look for and how they interpret their observational findings based on histopathology - Provides the reader with what is missing from most targeted introductions to pathology—the cell biology behind pathophysiology
Genomics Circuits And Pathways In Clinical Neuropsychiatry
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Author : Thomas Lehner
language : en
Publisher: Academic Press
Release Date : 2016-06-07
Genomics Circuits And Pathways In Clinical Neuropsychiatry written by Thomas Lehner and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-07 with Science categories.
This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. - Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics - Identifies key concepts, methods, and findings - Includes coverage of multiple disorders from autism to schizophrenia - Reviews specific genes associated with disorders - Discusses the genetic architecture of these syndromes - Explains how recent findings are influencing the understanding of biology - Clarifies the promise of these findings for future treatment
Cortical Development
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Author : Ryoichiro Kageyama
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-09-30
Cortical Development written by Ryoichiro Kageyama and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-09-30 with Medical categories.
This book reviews recent progress in cortical development research, focusing on the mechanisms of neural stem cell regulation, neuronal diversity and connectivity formation, and neocortical organization. Development of the cerebral cortex, the center for higher brain functions such as cognition, memory, and decision making, is one of the major targets of current research. The cerebral cortex is divided into many areas, including motor, sensory, and visual cortices, each of which consists of six layers containing a variety of neurons with different activities and connections. As this book explains, such diversity in neuronal types and connections is generated at various levels. First, neural stem cells change their competency over time, giving sequential rise to distinct types of neurons and glial cells: initially deep layer neurons, then superficial layer neurons, and lastly astrocytes. The activities and connections of neurons are further modulated via interactions with other brain regions, such as the thalamocortical circuit, and via input from the environment. This book on cortical development is essential reading for students, postdocs, and neurobiologists.
Autism
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Author : Michael Fitzgerald
language : en
Publisher: BoD – Books on Demand
Release Date : 2017-04-12
Autism written by Michael Fitzgerald and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-04-12 with Medical categories.
This book opens with a discussion of neurodiversity and an elaboration of the diagnosis of autism. It then examines factors correlating with autism, including sex bias, month of birth, migration and impact of infant feeding. The next section is on the impact of autism. The neurobiology and genetic section deals with epigenetics and intracellular pathways associated with etiology. The development and behaviour section deals with proprioceptive profiles and joint attention in autism. The final section focuses on interventions including mindfulness, animal assisted activity, social/cultural perspective on autism intervention and physical activity. The book is relevant to all professionals and researchers working with persons with autism, including psychiatrists/psychologists, speech and language therapists, occupational therapists, teachers, nurses and care workers.
Psychiatric Genetics
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Author : Thomas G. Schulze
language : en
Publisher: Oxford University Press
Release Date : 2018
Psychiatric Genetics written by Thomas G. Schulze and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018 with Medical categories.
Psychiatric Genetics: A Primer for Clinical and Basic Scientists offers a straightforward introduction to the essentials of psychiatric genetics, covering basic epidemiology, recruitment for human studies, phenotyping strategies, formal genetic and molecular genetic studies, statistical genetics, bioinformatics and genomics, pharmacogenetics, the most relevant animal models, and biobanking. Each chapter begins with a list of "take home" points that summarizes content, followed by a brief overview of current knowledge and suggestions for further reading.