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Neuroacanthocytosis Syndromes II by Ruth H. Walker,Shinji Saiki,Adrian Danek Pdf
The latest research regarding the neurodegenerative conditions known as neuroacanthocytosis will be found in this book. Recent advances have identified the range of mutations in the causative genes. In vitro studies have identified potential protein interactions, and work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated and provide the foundation for possible therapeutic interventions.
Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.
Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.
Uncommon Causes of Movement Disorders by Néstor Gálvez-Jiménez,Paul Tuite Pdf
A large number of neurological conditions result in abnormal movements of the body; these are often characterized by changes in coordination and altered speed of voluntary movement. Many obscure diseases, conditions and environmental insults can cause movement disorders but these are often overlooked. This volume expands and differentiates the many varied clinical presentations of movement disorders. Written by an international team of authors, including some of the most prominent clinicians in the field, disorders are defined and expanded in a clinically useful manner. Pathophysiological theories, genetic discoveries, new classifications, differential diagnoses and therapies are discussed extensively. Uncommon Causes of Movement Disorders provides a broad and comprehensive review of the field, concentrating on conditions infrequently seen but essential for practitioners to recognize in order to implement appropriate management. This is a key text for movement disorders specialists and general neurologists at all stages of their career.
Sleep and Movement Disorders by Sudhansu Chokroverty,Richard P. Allen,Arthur S. Walters,Pasquale Montagna Pdf
Sleep and Movement Disorders is the second edition of a successful book that was the first of its kind. Since its publication in 2002, significant progress has been made in our understanding of motor control in sleep and the relationship between sleep and movement disorders. Each editor is an authority on the subject and has assembled expert specialists for their chapter authors. The topic is very timely, the latest edition of the International classification of sleep disorders (ICSD-2, 2005) included a separate category of 'Sleep Related Movement Disorders' emphasizing the increasing awareness of sleep-related movements and the importance of recognizing sleep-related movement disorders for diagnosis, differential diagnosis and treatment. This is a comprehensive resource, including all findings from the last 8 years of research. All the previous chapters have been revised with new materials and references. Several chapters have been added to address recent advances. For instance, new sleep-related disorders have been classified and diagnosed, including catathrenia, alternating leg muscle activation (ALMA), propriospinal myoclonus (PSM) at sleep onset, faciomandibular myoclonus at sleep onset, etc. Further understanding of the pathophysiology of RLS-PLMS is addresses, as is the neurobiology of REM Behavior Disorder (RBD), predictors of neurodegenerative diseases, and so on. Sleep and Movement Disorders is divided into four major sections and subsections preceded by an introductory essay to provide perspective on the subject. The book is intended for all sleep and movement disorders specialists as well as those neurologists, internists including pulmonologists, psychiatrists, psychologists, otolaryngologists, pediatricians, neurosurgeons, dentists and family physicians who must deal with the many patients suffering from undiagnosed or underdiagnosed sleep disorders including sleep-related abnormal movements.
Tourette Syndrome by Davide Martino,James Leckman Pdf
Tourette syndrome (TS) has become increasingly recognised within society and has gained scientific interest worldwide. Knowledge of its clinical presentation, mechanisms of disease, and available treatment approaches has increased remarkably over the last two decades. Likewise, the way clinicians, teachers, social care workers, and families face the problems manifested by patients with TS is rapidly evolving. Tourette Syndrome, edited by Davide Martino and James F. Leckman, offers a unique opportunity to capture this knowledge advance through a comprehensive and up-to-date overview. Tourette Syndrome covers all the main aspects related to TS, analyzing its complex clinical presentation, the novel viewpoints of causes and mechanisms, state-of-the-art assessment techniques, and the diversity of treatment options. Multidisciplinarity is the main asset of this volume, which represents a source of consultation for a wide audience of professionals, integrated with video tutorials related to particularly complex areas of patient management. Medical and PhD students, as well as post-doctoral scientists, will be able to use the volume as a valuable learning source.
Hyperkinetic Movement Disorders by Alberto Albanese,Joseph Jankovic Pdf
Hyperkinetic movement disorders comprise a range of diseases characterized by unwanted and uncontrollable, or poorly controllable, involuntary movements. The phenomenology of these disorders is quite variable encompassing chorea, tremor, dystonia, myoclonus, tics, other dyskinesias, jerks and shakes. Discerning the underlying condition can be very difficult given the range and variability of symptoms. But recognizing the phenomenology and understanding the pathophysiology are essential to ensure appropriate treatment. Hyperkinetic Movement Disorders provides a clinical pathway for effective diagnosis and management of these disorders. The stellar international cast of authors distils the evidence so you can apply it into your practice. The judicious use of diagnostic criteria algorithms rating scales management guidelines Provides a robust framework for clear patient management. Throughout the text, QR codes* provide smartphone access to case-study videos of hyperkinetic symptoms. Purchase includes an enhanced Wiley Desktop Edition.* This is an interactive digital version featuring: all text and images in fully searchable form integrated videos of presentations View a sample video: www.wiley.com/go/albanese highlighting and note taking facilities book marking linking to additional references Hyperkinetic Movement Disorders provides you with the essential visual and practical tools you need to effectively diagnose and treat your patients. *Full instructions for using QR codes and for downloading your digital Wiley DeskTop Edition are inside the book.
Movement Disorders in Childhood by Harvey S. Singer,Jonathan Mink,Donald L. Gilbert,Joseph Jankovic Pdf
Movement Disorders in Childhood, Second Edition, provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. Over the past several decades, advances in genetics, neuroimaging, neurophysiology, and other areas of neuroscience have provided new understanding of the underlying etiologies and mechanisms of these conditions as well as new opportunities for more accurate diagnosis and effective treatment. This new edition builds upon the success of the first edition, with comprehensive scientific and clinical updates of all chapters. In addition, there are new chapters on hereditary spastic paraplegia, quantitative motor assessments, autoimmune disorders, and movement disorders in the developmental neuropsychiatric disorders ADHD, OCD, and autism. Additional materials are provided on the latest in drug treatments, computer based strategies for genetic diagnosis, and helpful videos for phenomenology. Provides the only current reference specifically focused on childhood movement disorders Investigates the underlying etiologies and mechanisms of these disorders Completely revised and updated with new materials and a more disease-oriented approach New coverage of genetics and movement disorders, immunology and movement disorders, and an introduction to the latest quantitative analysis New videos of instructive and unusual childhood movement disorders 2016 BMA Medical Book Awards Highly Commended in Neurology
Principles and Practice of Movement Disorders E-Book by Joseph Jankovic,Mark Hallett,Stanley Fahn Pdf
Principles and Practice of Movement Disorders provides the complete, expert guidance you need to diagnose and manage these challenging conditions. Drs. Stanley Fahn, Joseph Jankovic and Mark Hallett explore all facets of these disorders, including the latest rating scales for clinical research, neurochemistry, clinical pharmacology, genetics, clinical trials, and experimental therapeutics. This edition features many new full-color images, additional coverage of pediatric disorders, updated Parkinson information, and many other valuable updates. An accompanying Expert Consult website makes the content fully searchable and contains several hundred video clips that illustrate the manifestations of all the movement disorders in the book along with their differential diagnoses. Get just the information you need for a clinical approach to diagnosis and management, with minimal emphasis on basic science. Find the answers you need quickly and easily thanks to a reader-friendly full-color format, with plentiful diagrams, photographs, and tables. Apply the latest advances to diagnosis and treatment of pediatric movement disorders, Parkinson disease, and much more. View the characteristic presentation of each disorder with a complete collection of professional-quality, narrated videos online. Better visualize every concept with new full-color illustrations throughout. Search the complete text online, follow links to PubMed abstracts, and download all of the illustrations, at www.expertconsult.com.
NORD Guide to Rare Disorders by National Organization for Rare Disorders Pdf
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.
Author : J. Gordon Millichap Publisher : Springer Science & Business Media Page : 281 pages File Size : 51,7 Mb Release : 2013-08-04 Category : Medical ISBN : 9781461477860
Neurological Syndromes: A Clinical Guide to Symptoms and Diagnosis offers a concise, invaluable resource for understanding how a group of neurologic symptoms or signs collectively characterize a disease or disorder. Intended as a quick reference guide to the better known and some less familiar syndromes of neurological interest and developed by a renowned pediatric neurologist with more than 40 years experience in treating children, adolescents, and young adults, this handy title provides a definition of each syndrome that includes diagnostic characteristics and abnormalities, a differential diagnosis, genetic considerations, and a short list of references. To those readers who can recall the name of a syndrome, the alphabetical presentation should facilitate a review of the major diagnostic characteristics. The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment. The index is arranged in alphabetical order of the named syndromes and also according to the involvement of various organs in addition to the nervous system. A unique contribution to the literature, Neurological Syndromes: A Clinical Guide to Symptoms and Diagnosis will be of great interest to the wide variety of clinicians treating patients with neurologic disease.
The Encyclopedia of Movement Disorders is a comprehensive reference work on movement disorders, encompassing a wide variety of topics in neurology, neurosurgery, psychiatry and pharmacology. This compilation will feature more than 300 focused entries, including sections on different disease states, pathophysiology, epidemiology, genetics, clinical presentation, diagnostic tools, as well as discussions on relevant basic science topics. This Encyclopedia is an essential addition to any collection, written to be accessible for both the clinical and non-clinical reader. Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in the laboratory to the clinical features, pathophysiology and treatment of movement disorders. The Encyclopedia targets a broad readership, ranging from students to general physicians, basic scientists and Movement Disorder specialists. Published both in print and via Elsevier’s online platform of Science Direct, this Encyclopedia will have the enhanced option of integrating traditional print with online multimedia. Connects experimental findings made in the laboratory to the clinical features, pathophysiology, and treatment of movement disorders Encompasses a wide variety of topics in neurology neurosurgery, psychiatry, and pharmacology Written for a broad readership ranging from students to general physicians, basic scientists, and movement disorder specialists
Movement Disorder Emergencies by Steven J. Frucht,Stanley Fahn Pdf
Movement Disorder Emergencies: Diagnosis and Treatment provides a fresh and unique approach to what is already a high-profile subspecialty area in clinical neurology. The disorders covered in this volume are standard fare in the field but emphasize the urgencies and emergencies that can occur. One of the very attractive features of the field of movement disorders is that diagnosis is often based on unique visible and sometimes audible phenomenological symptoms and signs. Therefore, in this era of highly sophisticated laboratory and radiological diagnostic tools, the diagnosis of many movement disorders is still largely made in the clinic where pattern recognition is key. Crucial to astute clinical diagnosis is broad clinical experience. In short, you have to have seen one to recognize one! Patients with movement disorders nearly always present as outpatients but, as aptly recognized by Drs. Frucht and Fahn, this may include acute manifestations leading to emergency presentations, often in an emergency room setting, where they are very likely to be unrecognized and therefore poorly managed. The authors define an “emergency” movement disorder as one in which failure to promptly diagnose and treat may result in significant morbidity or mortality. However, they also stress the importance of certain “can’t miss” diagnoses such as Wilson’s disease, dopa-responsive dystonia, and Whipple’s disease in which delayed diagnosis in less emergent situations can lead to slowly evolving and often irreversible neurological damage with tragic consequences.
Author : Thomas T. Warner,Simon R. Hammans Publisher : Elsevier Health Sciences Page : 343 pages File Size : 55,8 Mb Release : 2008-11-04 Category : Medical ISBN : 9780702038457
Practical Guide to Neurogenetics E-Book by Thomas T. Warner,Simon R. Hammans Pdf
This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.