A Clinico Genetic Study Of Psychiatric Disorder In Huntingtons Chorea
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| Author | : Adrian Danek |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 310 |
| Release | : 2004-11-19 |
| Genre | : Medical |
| ISBN | : 9781402028977 |
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.
| Author | : Udo Rüb |
| Publisher | : Springer |
| Total Pages | : 154 |
| Release | : 2015-09-29 |
| Genre | : Medical |
| ISBN | : 331919285X |
This monograph describes the progress in neuropathological HD research made during the last century, the neuropathological hallmarks of HD and their pathogenic relevance. Starting with the initial descriptions of the progressive degeneration of the striatum as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating neuropathological data with results on the functional neuroanatomy of the human brain, subsequent chapters will highlight recent HD findings: the neuronal loss in the cerebral neo-and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and nuclei, the involvement of select brainstem nuclei, as well as the pathophysiological relevance of these pathologies for the clinical picture of HD. Finally, the potential pathophysiological role of neuronal huntingtin aggregations and the most important and enduring challenges of neuropathological HD research are discussed.
| Author | : Alberto Albanese |
| Publisher | : John Wiley & Sons |
| Total Pages | : 413 |
| Release | : 2012-03-07 |
| Genre | : Medical |
| ISBN | : 1444346164 |
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.
| Author | : Ivan Donaldson |
| Publisher | : Oxford University Press |
| Total Pages | : 1512 |
| Release | : 2012-03-29 |
| Genre | : Medical |
| ISBN | : 0191502243 |
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.
| Author | : Ruth H. Walker |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 475 |
| Release | : 2011 |
| Genre | : Language Arts & Disciplines |
| ISBN | : 0195393511 |
"The Differential Diagnosis of Chorea provides a comprehensive account of the various neurological conditions, both genetic and acquired, that lead to this involuntary movement disorder.
| Author | : Geoffrey S. Ginsburg |
| Publisher | : Academic Press |
| Total Pages | : 851 |
| Release | : 2009-10-02 |
| Genre | : Science |
| ISBN | : 0080958117 |
Derived from the comprehensive two-volume set, Genomic and Personalized Medicine also edited by Drs. Willard and Ginsburg, this work serves the needs of the evolving population of scientists, researchers, practitioners and students that are embracing one of the most promising avenues for advances in diagnosis, prevention and treatment of human disease. From principles, methodology and translational approaches to genome discoveries and clinical applications, Essentials of Genomic and Personalized Medicine will be a valuable resource for various professionals and students across medical disciplines, including human genetics and genomics, oncology, neuroscience, gene therapy, molecular medicine, pharmacology, and biomedical sciences. Updates with regard to diagnostic testing, pharmacogenetics, predicting disease susceptibility, and other important research components as well as chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, present this book as an essential tool for a variety of professionals and students who are endeavouring into the developing the diverse and practical field of genomic and personalized medicine. - Full color throughout - Includes contributions on genetic counselling, ethical, legal/regulatory, and social issues related to the practice of genomic medicine from leaders in the field - Introductory chapter highlights differences between personalized and traditional medicine, promising areas of current research, and challenges to incorporate the latest research discoveries and practic - Ancillary material includes case studies and lab questions which highlight the collaborative approach to the science
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 353 |
| Release | : 1994-01-01 |
| Genre | : Medical |
| ISBN | : 0309047986 |
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
| Author | : Paul R. McHugh |
| Publisher | : JHU Press |
| Total Pages | : 499 |
| Release | : 1998-11-29 |
| Genre | : Medical |
| ISBN | : 1421404141 |
Substantially revised to include a wealth of new material, the second edition of this highly acclaimed work provides a concise, coherent introduction that brings structure to an increasingly fragmented and amorphous discipline. Paul R. McHugh and Phillip R. Slavney offer an approach that emphasizes psychiatry's unifying concepts while accommodating its diversity. Recognizing that there may never be a single, all-encompassing theory, the book distills psychiatric practice into four explanatory methods: diseases, dimensions of personality, goal-directed behaviors, and life stories. These perspectives, argue the authors, underlie the principles and practice of all psychiatry. With an understanding of these fundamental methods, readers will be equipped to organize and evaluate psychiatric information and to develop a confident approach to practice and research.
| Author | : Judith Pratt |
| Publisher | : Springer |
| Total Pages | : 431 |
| Release | : 2019-01-05 |
| Genre | : Medical |
| ISBN | : 3319996428 |
This volume addresses one of the Holy Grails in Psychiatry, namely the evidence for and potential to adopt ‘Biomarkers’ for prevention, diagnosis, and treatment responses in mental health conditions. It meshes together state of the art research from international renowned pre-clinical and clinical scientists to illustrate how the fields of anxiety disorders, depression, psychotic disorders, and autism spectrum disorder have advanced in recent years.
| Author | : Bernhard Baune |
| Publisher | : Academic Press |
| Total Pages | : 594 |
| Release | : 2019-10-16 |
| Genre | : Medical |
| ISBN | : 0128131772 |
Personalized Psychiatry presents the first book to explore this novel field of biological psychiatry that covers both basic science research and its translational applications. The book conceptualizes personalized psychiatry and provides state-of-the-art knowledge on biological and neuroscience methodologies, all while integrating clinical phenomenology relevant to personalized psychiatry and discussing important principles and potential models. It is essential reading for advanced students and neuroscience and psychiatry researchers who are investigating the prevention and treatment of mental disorders. - Combines neurobiology with basic science methodologies in genomics, epigenomics and transcriptomics - Demonstrates how the statistical modeling of interacting biological and clinical information could transform the future of psychiatry - Addresses fundamental questions and requirements for personalized psychiatry from a basic research and translational perspective
