Leukodystrophies

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Leukodystrophies

Author : Gerald V. Raymond
Publisher : Mac Keith Press
ISBN 13 : 9781907655098
Total Pages : 0 pages
Book Rating : 4.6/5 (55 download)

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Book Synopsis Leukodystrophies by : Gerald V. Raymond

Download or read book Leukodystrophies written by Gerald V. Raymond and published by Mac Keith Press. This book was released on 2011-04-18 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The leukodystrophies are serious, progressive disorders of demyelination, manifesting themselves in infancy or early childhood and progressing rapidly, leading to loss of sight, hearing, speech, and ambulation, and early death. A comprehensive guide to the genetics and pathogenesis of these disorders, as well as their clinical features, diagnosis and therapy, is needed, particularly as their early identification can allow more effective treatment. This book is the only up-to-date, comprehensive text on leukodystrophies. Its purpose is to summarize for the reader all aspects of the inherited disorders of myelin in children and adults. After a comprehensive overview of myelin and the role of oligodendrocytes, astrocytes and microglia in white matter disease, chapters are then devoted to individual disorders, covering their biochemical and molecular basis, genetics, pathophysiology, clinical features, diagnosis, treatment and screening. The final chapters address therapeutic approaches in leukodystrophies and present a clinical approach to diagnosing leukoencephalopathies in children and adults. The book was conceived by Hugo Moser, whose research led to major developments in the treatment of adrenoleukodystrophy, and is dedicated to him by his colleagues. Readership: Paediatric and adult neurologists, paediatricians, geneticists.

Magnetic Resonance of Myelin, Myelination, and Myelin Disorders

Author : Jacob Valk
Publisher : Springer Science & Business Media
ISBN 13 : 366202568X
Total Pages : 390 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Magnetic Resonance of Myelin, Myelination, and Myelin Disorders by : Jacob Valk

Download or read book Magnetic Resonance of Myelin, Myelination, and Myelin Disorders written by Jacob Valk and published by Springer Science & Business Media. This book was released on 2013-04-17 with total page 390 pages. Available in PDF, EPUB and Kindle. Book excerpt: Magnetic resonance imaging (MRI) is now considered the imaging modality of choice for the majority of disorders affecting the central nervous system. This is particularly true for gray and white matter disorders, thanks to the superb soft tis sue contrast in MRI which allows gray matter, unmyelinated, and myelinated white matter to be distinguished and their respective disorders identified. The pre sent book is devoted to the disorders of myelin and myelination. A growing amount of detailed in vivo information about myelin, myelination, and myelin dis orders has been derived both from MRI and from MR spectroscopy (MRS). This prompted us to review the clinical, laboratory, biochemical, and pathological data on this subject in order to integrate all available information and to provide im proved insights into normal and disordered myelin and myelination. We will show how the synthesis of all available information contributes to the interpretation of MR images. After a brief historical review about the increasing knowledge on myelin and my elin disorders, we propose a new classification of myelin disorders based on the subcellular localization of the enzymatic defects as far as the inborn errors of me tabolism are concerned. This classification serves as a guide throughout the book. All items of the classification will be discussed and, whenever relevant and possi ble, be illustrated by MR images.

Neurogenetics

Author :
Publisher : Elsevier
ISBN 13 : 0444640770
Total Pages : 480 pages
Book Rating : 4.4/5 (446 download)

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Book Synopsis Neurogenetics by :

Download or read book Neurogenetics written by and published by Elsevier. This book was released on 2018-01-09 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Developmental Neuropathology

Author : Reinhard L. Friede
Publisher : Springer Science & Business Media
ISBN 13 : 3642736971
Total Pages : 591 pages
Book Rating : 4.6/5 (427 download)

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Book Synopsis Developmental Neuropathology by : Reinhard L. Friede

Download or read book Developmental Neuropathology written by Reinhard L. Friede and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 591 pages. Available in PDF, EPUB and Kindle. Book excerpt: I was gratified by the most favorable reception and wide usage received by the first edition of this book. A decade seems to be a short period for a book on pathology, and yet it witnessed many important changes of concepts, along with a formidable growth of knowledge. The second edition required extensive reorganization. There are new chapters on mitochondriopathies, on peroxisomal diseases and on spongy myelino pathies. Major revisions and new additions were necessary in many chapters, for instance those on the dysplasias of the cerebral and of the cerebellar hemispheres, which were largely reorganized. The chapters on perinatal pathology were reordered and reorganized to give a more logical sequence of prenatal, perinatal and postnatal lesions. The entire text was worked over for brevity. A wealth of new references was added with the. aim of staying abreast with the literature up to summer 1988. All refer ences were double checked for errors. My gratitude goes to Mrs. Gisela Ropte and Mrs. Cynthia Bunker for their untiring, diligent help. As a result, this second edition is an essentially rewritten text. Advance in the prevention of human suffering is based on a thorough understand ing of the nature of disease. I hope that this text will continue to be of service in this behalf. Perhaps it may also reflect and foster the intellectual curiosity which makes the "reading of brains" so interesting an occupation. Gottingen, 1989 Reinhard L.

Neuroimaging

Author :
Publisher : Newnes
ISBN 13 : 0702045381
Total Pages : 720 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Neuroimaging by :

Download or read book Neuroimaging written by and published by Newnes. This book was released on 2016-07-12 with total page 720 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuroimaging, Part Two, a volume in The Handbook of Clinical Neurology series, illustrates how neuroimaging is rapidly expanding its reach and applications in clinical neurology. It is an ideal resource for anyone interested in the study of the nervous system, and is useful to both beginners in various related fields and to specialists who want to update or refresh their knowledge base on neuroimaging. This second volume covers imaging of the adult spine and peripheral nervous system, as well as pediatric neuroimaging. In addition, it provides an overview of the differential diagnosis of the most common imaging findings, such as ring enhancement on MRI, and a review of the indications for imaging in the most frequent neurological syndromes. The volume concludes with a review of neuroimaging in experimental animals and how it relates to neuropathology. It brings broad coverage of the topic using many color images to illustrate key points. Contributions from leading global experts are collated, providing the broadest view of neuroimaging as it currently stands. For a number of neurological disorders, imaging is not only critical for diagnosis, but also for monitoring the effect of therapies, with the entire field moving from curing diseases to preventing them. Most of the information contained in this volume reflects the newness of this approach, pointing to the new horizon in the study of neurological disorders. Provides a relevant description of the technologies used in neuroimaging, such as computed tomography, magnetic resonance imaging, positron emission tomography, and several others Discusses the application of these techniques to the study of brain and spinal cord disease Explores the indications for the use of these techniques in various syndromes

NORD Guide to Rare Disorders

Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)

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Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders

Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Atlas of Gross Neuropathology Book and Online Bundle

Author : Kathreena M. Kurian
Publisher : Cambridge University Press
ISBN 13 : 1107038162
Total Pages : 243 pages
Book Rating : 4.1/5 (7 download)

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Book Synopsis Atlas of Gross Neuropathology Book and Online Bundle by : Kathreena M. Kurian

Download or read book Atlas of Gross Neuropathology Book and Online Bundle written by Kathreena M. Kurian and published by Cambridge University Press. This book was released on 2014-08-21 with total page 243 pages. Available in PDF, EPUB and Kindle. Book excerpt: Unparalleled access to the entire central nervous system with over four hundred gross neuropathology images from adult and paediatric post-mortem tissues.

Pediatric Neurology

Author : James F Bale Jr
Publisher : CRC Press
ISBN 13 : 1840766026
Total Pages : 353 pages
Book Rating : 4.8/5 (47 download)

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Book Synopsis Pediatric Neurology by : James F Bale Jr

Download or read book Pediatric Neurology written by James F Bale Jr and published by CRC Press. This book was released on 2011-12-15 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recognizing patterns of disease can be the first step to successful management of the child with a neurological problem; this is emphasized by the authors throughout the book. Their concise, precise account reflects the remarkable recent advances in pediatric neurology and related disciplines, while stressing the fundamentals of clinical examination and history taking in reaching an accurate diagnosis. The book begins with a detailed discussion of neurological examination techniques and the basic formulation of differential diagnoses and management, using neuroradiology, electrophysiology, cerebrospinal fluids, genetic and metabolic testing. The second section of the book follows a problem-based approach, just as diseases present in the real world. It employs practical, symptom- and sign-based strategies for virtually all conditions encountered by the practitioner. The final section on neurological emergencies recognizes that such conditions present first to someone other than a pediatric neurologist. This new color handbook is illustrated throughout by a wealth of top-quality clinical photos and imaging, and is of interest to pediatric neurologists, general pediatricians, primary care physicians and emergency physicians, in training and practice.

Hereditary Leukoencephalopathies and Demyelinating Neuropathies in Children

Author : Graziella Uziel
Publisher : John Libbey Eurotext
ISBN 13 : 9782742005239
Total Pages : 192 pages
Book Rating : 4.0/5 (52 download)

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Book Synopsis Hereditary Leukoencephalopathies and Demyelinating Neuropathies in Children by : Graziella Uziel

Download or read book Hereditary Leukoencephalopathies and Demyelinating Neuropathies in Children written by Graziella Uziel and published by John Libbey Eurotext. This book was released on 2004 with total page 192 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetically determined myelinopathies are a large group of neurological diseases that present a challenge to the clinician, the biologist and the geneticist. During the last decade, the development of tools for exploring the nervous system and the human genome has had a tremendous impact on the understanding of these diseases. Thus, the advances in neuroimaging techniques and molecular genetic research are continuously influencing disease classification, diagnostic protocols, and management of patients. These topics are the focus of the present publication. The aim is to provide a comprehensive review of the most important issues regarding genetic myelin disorders.

Neuroglia in Neurodegenerative Diseases

Author : Alexei Verkhratsky
Publisher : Springer Nature
ISBN 13 : 9811399131
Total Pages : 405 pages
Book Rating : 4.8/5 (113 download)

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Book Synopsis Neuroglia in Neurodegenerative Diseases by : Alexei Verkhratsky

Download or read book Neuroglia in Neurodegenerative Diseases written by Alexei Verkhratsky and published by Springer Nature. This book was released on 2019-10-03 with total page 405 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview of the role of neuroglia in neurodegenerative diseases. Neuroglia are the most abundant cells in the nervous system and consist of several distinct cell types, such as astrocytes, oligodendrocytes,and microglia. Accumulating evidence suggests that neuroglia participate in the neurodegenerative process, and as such are essential players in a variety of diseases, including Alzheimer’s, Parkinson’s, and Huntington’s. Intended for researchers and students, the book presents recent advances concerning the biology of neuroglia as well as their interaction with neurons during disease progression. In addition, to highlight the function of neuroglia in different types of neurodegenerative disease, it also discusses their mechanisms and effects on protecting or damaging neurons.

Inherited Metabolic Epilepsies

Author : Phillip L. Pearl, MD
Publisher : Demos Medical Publishing
ISBN 13 : 1617050563
Total Pages : 377 pages
Book Rating : 4.6/5 (17 download)

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Book Synopsis Inherited Metabolic Epilepsies by : Phillip L. Pearl, MD

Download or read book Inherited Metabolic Epilepsies written by Phillip L. Pearl, MD and published by Demos Medical Publishing. This book was released on 2012-10-04 with total page 377 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy. Inherited Metabolic Epilepsies Key Features: Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders A readable text for clinicians highlighting the relation between metabolic errors and epilepsy Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy

Diseases of the Brain, Head and Neck, Spine 2020–2023

Author : Juerg Hodler
Publisher : Springer Nature
ISBN 13 : 303038490X
Total Pages : 252 pages
Book Rating : 4.0/5 (33 download)

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Book Synopsis Diseases of the Brain, Head and Neck, Spine 2020–2023 by : Juerg Hodler

Download or read book Diseases of the Brain, Head and Neck, Spine 2020–2023 written by Juerg Hodler and published by Springer Nature. This book was released on 2020-02-14 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book offers an essential overview of brain, head and neck, and spine imaging. Over the last few years, there have been considerable advances in this area, driven by both clinical and technological developments. Written by leading international experts and teachers, the chapters are disease-oriented and cover all relevant imaging modalities, with a focus on magnetic resonance imaging and computed tomography. The book also includes a synopsis of pediatric imaging. IDKD books are rewritten (not merely updated) every four years, which means they offer a comprehensive review of the state-of-the-art in imaging. The book is clearly structured and features learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers navigate the text. It will particularly appeal to general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic expertise, as well as clinicians from other specialties who are interested in imaging for their patient care.

Neurodegenerative Diseases

Author : Philip Beart
Publisher : Springer
ISBN 13 : 3319571931
Total Pages : 542 pages
Book Rating : 4.3/5 (195 download)

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Book Synopsis Neurodegenerative Diseases by : Philip Beart

Download or read book Neurodegenerative Diseases written by Philip Beart and published by Springer. This book was released on 2017-07-03 with total page 542 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides a timely overview of critical advances in molecular and cellular neurobiology, covers key methodologies driving progress, and highlights key future directions for research on neuronal injury and neurodegeneration relevant to neuronal brain pathologies. The editors bring together contributions from internationally recognized workers in the field to provide an up to date account of how and why molecular and cellular neurobiology is such an important area for clinical neuroscience. Understanding the molecular aspects of a number of neurodegenerative conditions such as Parkinson's or Alzheimer's disease for the purpose of improving patient management remains a major challenge of neurobiology be it from the basic or clinical perspective. A strategic evaluation of research contributions and the power of modern methods will help advance knowledge over the next years.

Practical Surgical Neuropathology: A Diagnostic Approach E-Book

Author : Arie Perry
Publisher : Elsevier Health Sciences
ISBN 13 : 0323508669
Total Pages : 640 pages
Book Rating : 4.3/5 (235 download)

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Book Synopsis Practical Surgical Neuropathology: A Diagnostic Approach E-Book by : Arie Perry

Download or read book Practical Surgical Neuropathology: A Diagnostic Approach E-Book written by Arie Perry and published by Elsevier Health Sciences. This book was released on 2017-10-16 with total page 640 pages. Available in PDF, EPUB and Kindle. Book excerpt: Part of the in-depth and practical Pattern Recognition series, Practical Surgical Neuropathology, 2nd Edition, by Drs. Arie Perry and Daniel J. Brat, helps you arrive at an accurate CNS diagnosis by using a pattern-based approach. Leading diagnosticians in neuropathology guide you from a histological (and/or clinical, radiologic, and molecular) pattern, through the appropriate work-up, around the pitfalls, and to the best diagnosis. Almost 2,000 high-quality illustrations capture key neuropathological patterns for a full range of common and rare conditions, and a "visual index" at the beginning of the book directs you to the exact location of in-depth diagnostic guidance. Instructive algorithms provide detailed guidance based on 8 major (scanning magnification) patterns and 20 minor (high magnification) patterns – helping you narrow the range of diagnostic possibilities. A user-friendly design color-codes patterns to specific entities, and key points are summarized in tables, charts, and graphs so you can quickly and easily find what you are looking for. Sweeping content updates keep you at the forefront of recent findings regarding gliomas, embryonal neoplasms, meningiomas, pituitary region and pineal tumors, epilepsy pathology, peripheral nerve sheath tumors, neurodegenerative disorders, tumor predisposition syndromes, and much more. Improved pattern call-outs are now linked directly within the chapter, reinforcing the patterns for more efficient and complete understanding.

MR Spectroscopy of Pediatric Brain Disorders

Author : Stefan Blüml
Publisher : Springer Science & Business Media
ISBN 13 : 1441958649
Total Pages : 405 pages
Book Rating : 4.4/5 (419 download)

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Book Synopsis MR Spectroscopy of Pediatric Brain Disorders by : Stefan Blüml

Download or read book MR Spectroscopy of Pediatric Brain Disorders written by Stefan Blüml and published by Springer Science & Business Media. This book was released on 2012-12-02 with total page 405 pages. Available in PDF, EPUB and Kindle. Book excerpt: Magnetic resonance spectroscopy (MRS) is a modality available on most clinical MR scanners and readily integrated with standard MR imaging (MRI). For the brain in particular, MRS has been a powerful research tool providing additional clinically relevant information for several disease families such as brain tumors, metabolic disorders, and systemic diseases. The most widely-available MRS method, proton (1H; hydrogen) spectroscopy, is FDA approved for general use in the US and can be ordered by clinicians for patient studies if indicated. There are several books available that describe applications of MRS in adults. However, to the best of our knowledge there is currently no book available that focuses exclusively on applications in pediatrics. MR spectroscopy in the pediatric population is different from adults for two main reasons. Particularly in the newborn phase the brain undergoes biochemical maturation with dramatic changes of the "normal" biochemical fingerprint. Secondly, brain diseases in the pediatric population are different from adult disorders. For example, brain tumors, which are mostly gliomas in the adults, often originate from different cell types and are also more diverse even within the same type and grade of tumor. This diversity of diseases and its implications for MR spectroscopy has not been addressed sufficiently in the literature, we believe. The target audience for "MR Spectroscopy of Pediatric Brain Disorders" are thus both clinicians and researchers involved with pediatric brain disorders. This includes radiologists, neurologists, neurooncologists, neurosurgeons, and more broadly the neuroscience and neurobiology community. This book will provide the necessary background information to understand the basics of MR spectroscopy. This will be followed by a detailed discussion of the normal biochemical maturation which will highlight the metabolic differences between the pediatric and adult brain. Thereafter, in SECTION I individual chapters will address various pediatric brain disease families. Of particular importance for pediatrics are case studies. For that reason, SECTION II will contain a large number of case studies. This will be particularly important for clinicians who may want to see examples of MRS for various conditions. A standardized format will be used for case reports that allow the reader to quickly understand the history of each case presented and the significance of the findings. The case reports will also include information from other imaging modalities to point out any added value of MRS in addition to conventional studies and clinical information. This section is necessary because the format of providing more complete information about individual patients is not practical for the chapters in SECTION I.

Metabolic Encephalopathy

Author : David W. McCandless
Publisher : Springer Science & Business Media
ISBN 13 : 0387791124
Total Pages : 591 pages
Book Rating : 4.3/5 (877 download)

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Book Synopsis Metabolic Encephalopathy by : David W. McCandless

Download or read book Metabolic Encephalopathy written by David W. McCandless and published by Springer Science & Business Media. This book was released on 2009-05-17 with total page 591 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolic Encephalopathy is meant to combine and correlate animal and human studies. It is hoped that increased awareness of the importance of early diagnosis and treatment of these disorders may result in a lowering of the incidence of structural changes and morbidity. These disorders hold a special fascination for both basic scientists and clinical investigators because they are accessible, treatable and there exists good animal models for study. Therefore, this book will pull together basic and clinical neuroscience issue in the treatment of specific metabolic encephalopathies.

Secondary Schizophrenia

Author : Perminder S. Sachdev
Publisher : Cambridge University Press
ISBN 13 : 1139485229
Total Pages : pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis Secondary Schizophrenia by : Perminder S. Sachdev

Download or read book Secondary Schizophrenia written by Perminder S. Sachdev and published by Cambridge University Press. This book was released on 2010-02-04 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This book is the first major attempt to bring together the diseases that produce what has been termed 'secondary schizophrenia'. International experts from diverse backgrounds ask the questions: does this medical disorder, or drug, or condition cause psychosis? If yes, does it resemble schizophrenia? What mechanisms form the basis of this relationship? What implications does this understanding have for aetiology and treatment? The answers are a feast for clinicians and researchers of psychosis and schizophrenia. They mark the next step in trying to meet the most important challenge to modern neuroscience – understanding and conquering this most mysterious of human diseases.