Genetics of Movement Disorders

Genetics of Movement Disorders

Author: Stefan M. Pulst

Publisher: Elsevier

Published: 2002-10-25

Total Pages: 585

ISBN-13: 0080532411

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Hereditary or genetic diseases featuring involuntary movements constitute a major aspect of the practice of neurology, functional neurosurgery, genetics, and many areas of basic and applied neuroscience research. Describing the current knowledge on these disorders, Genetics of Movement Disorders brings together information essential for clinicians, geneticists, and neuroscientists in one source. Utilizing a convenient and accessible format, the book is designed to allow easy identification of relevant information, with the overall organization of topics following established phenotypic classifications of movement disorders such as Parkinsonian syndromes, chorea, ataxia, and major categories of diseases grouped by gene locus. This book broadly appeals to neurologists, neuroscientists, geneticists, as well as cell and molecular biologists and hematologists. - Consistently formatted to present a clinical description of the disorder, followed by an in-depth analysis of the mutation and function of the mutated gene including cellular and animal models - Emphasizes the use of DNA tests for each respective disorder - Provides up-to-date, easily accessible information for clinicians, geneticists, and neuroscientists


Movement Disorders

Movement Disorders

Author: Mark S. LeDoux

Publisher: Elsevier

Published: 2005-01-25

Total Pages: 821

ISBN-13: 0080470564

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The use of animal models is a key aspect of scientific research in numerous fields of medicine. This book vigorously examines the important contributions and application of animal models to the understanding of human movement disorders and will serve as an essential resource for basic neuroscientists engaged in movement disorders research. Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in different animal models to the clinical features, pathophysiology and treatment of human movement disorders. A vital feature of this book is an accompanying DVD with video clips of human movement disorders and their corresponding animal models. The book is divided into sections on Parkinson disease, Huntington disease, dystonia, tremor, paroxysmal movement disorders, ataxia, myoclonus, restless legs syndrome, drug-induced movement disorders, multiple system atrophy, progressive supranuclear palsy/corticobasal degeneration and spasticity. This book serves as an essential resource for both clinicians interested in the science being generated with animal models and basic scientists studying the pathogenesis of particular movement disorders.* Provides a single comprehensive resource on animal models of movement disorders that academic clinicians, translational researchers, and basic neuroscientists can refer to* Includes contributions by expert movement disorder clinicians and top-level researchers in the field* Features a DVD containing over 170 video clips of human movement disorders and the corresponding animal models


Paroxysmal Movement Disorders

Paroxysmal Movement Disorders

Author: Kapil D. Sethi

Publisher: Springer Nature

Published: 2020-11-18

Total Pages: 145

ISBN-13: 3030537218

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This book addresses the challenges in the differential diagnosis and management of paroxysmal movement disorders. It provides the latest information on the genetics and pathophysiology, neurophysiology and neuroimaging of the core group of disorders in the field, namely the paroxysmal dyskinesias (PxD). Focused and concise, this guide features chapters that discuss other conditions that may be paroxysmal such as, episodic ataxia, startle syndromes and other more complicated groups of paroxysmal movement disorders such as ATP1A3 spectrum disorders. A chapter on secondary (acquired) paroxysmal dyskinesia highlights medical and other disorders that may result in paroxysmal dyskinesia. The book features a particularly nuanced chapter that discusses recent discoveries in the genetic aspects of PxD, relaying that paroxysmal dyskinesias are not channelpathies, but in fact are synaptophies and transportopathies. Additionally, expertly written chapters are supplemented by high quality images, tables, and videos. Paroxysmal Movement Disorders: A Practical Guide is primarily written to educate the reader on how to make a syndromic diagnosis of paroxysmal movement disorders and how to build the diagnostic work-up accordingly, as well as how to manage patients with paroxysmal movement disorders.


Movement Disorders Phenomenology

Movement Disorders Phenomenology

Author: Steven J. Frucht

Publisher: Springer Nature

Published: 2020-03-12

Total Pages: 312

ISBN-13: 3030369757

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​This book presents a comprehensive, practical approach to the evaluation of movement disorders using phenomenological basic principles, new discoveries in phenomenological research, and core values of outpatient neurology. Movement Disorders Phenomenology begins with an overview of phenomenology and common approaches to movement disorder patients. Subsequent chapters then accurately and concisely relay information on major hypokinetic disorders such as atypical Parkinsonism, idiopathic Parkinson’s disease, cortical myoclonus, and complex motor tics. Expertly written text is further supplemented by patient vignettes at the beginning of select chapter that focus the reader's attention and highlight the urgency of the problem. These high quality videos aid in the astute clinical diagnosis of many movement disorders that are still largely dependent on visual pattern recognition in the clinic. The book closes with a timely discussion on the role of genetics in movement disorders. Written for the practicing physician, Movement Disorders Phenomenology is an indispensable reference for neurology residents, general neurologists, movement disorders fellows and clinicians, and to any clinician who encounters and evaluates patients in the outpatient arena.


Principles and Practice of Movement Disorders E-Book

Principles and Practice of Movement Disorders E-Book

Author: Joseph Jankovic

Publisher: Elsevier Health Sciences

Published: 2011-08-09

Total Pages: 557

ISBN-13: 1437737706

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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.


Movement Disorder Genetics

Movement Disorder Genetics

Author: Susanne A. Schneider

Publisher: Springer

Published: 2015-05-13

Total Pages: 529

ISBN-13: 3319172239

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This book covers recent developments and possible pitfalls in the diagnosis of genetic movement disorders and related conditions. It is divided into three sections: technical and scientific aspects; clinical aspects with guidance towards work-up; and ethical and legal aspects of genetic testing in a clinical and research setting. The first section includes chapters on genetic analysis and counselling with critical discussion of potential problems when interpreting the results. Clinical chapters summarize genetic forms of movement disorders including parkinsonism, tics and dystonia with algorithms for hands-on daily practice. Related conditions such as RLS, ataxias and dementias are also covered. Finally, chapters on ethical and legal aspects of genetic testing are included. Movement Disorder Genetics is aimed at clinicians and scientists working in the field of movement disorders and related conditions.


Movement Disorders in Childhood

Movement Disorders in Childhood

Author: Harvey S. Singer

Publisher: Academic Press

Published: 2015-10-27

Total Pages: 601

ISBN-13: 0124115802

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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


Neurology in Clinical Practice

Neurology in Clinical Practice

Author: Walter George Bradley

Publisher:

Published: 2004

Total Pages: 1672

ISBN-13: 9780750674690

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New edition, completely rewritten, with new chapters on endovascular surgery and mitochrondrial and ion channel disorders.


Marsden's Book of Movement Disorders

Marsden's Book of Movement Disorders

Author: Ivan Donaldson

Publisher: Oxford University Press

Published: 2012-03-29

Total Pages: 1512

ISBN-13: 0191502243

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This book represents the final work of the late Professor C. David Marsden, who was the most influential figure in the field of movement disorders, in terms of his contributions to both research and clinical practice, in the modern era. It was conceived and written by David Marsden and his colleague at the Institute of Neurology, Prof. Ivan Donaldson. It was their intention that this would be the most comprehensive book on movement disorders and also that it would serve as the 'clinical Bible' for the management of these conditions. It provides a masterly survey of the entire topic, which has been made possible only by vast laboratory and bedside experience. Marsden's Book of Movement Disorders covers the full breadth of movement disorders, from the underlying anatomy and understanding of basal ganglia function to the diagnosis and management of specific movement disorders, including the more common conditions such as Parkinson's Disease through to rare, and very rare conditions such as Niemann-Pick disease. Chapters follow a structured format with historical overviews, definitions, clinical features, differential diagnosis, investigations and treatment covered in a structured way. It is extensively illustrated with many original photographs and diagrams of historical significance. Among these illustrations are still images of some original film clips of some of Dr. Marsden's patients published here for the first time. Comprehensively referenced and updated by experts from the Institute of Neurology at Queen Square, this book is a valuable reference for, not just movement disorder specialists and researchers, but also for clinicians who care for patients with movement disorders.


Encyclopedia of Movement Disorders

Encyclopedia of Movement Disorders

Author:

Publisher: Academic Press

Published: 2010-02-26

Total Pages: 1633

ISBN-13: 012374105X

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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