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Prenatal Testing For Late Onset Neurogenetic Diseases
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Book Synopsis Prenatal Testing for Late-onset Neurogenetic Diseases by : G Evers-Kiebooms
Download or read book Prenatal Testing for Late-onset Neurogenetic Diseases written by G Evers-Kiebooms and published by CRC Press. This book was released on 2003-12-16 with total page 242 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book addresses the biological, moral and legal issues which arising prenatal testing of late onset neurogenetic disease. The contributors focus specifically on Huntington's Disease, which is used as a model for other late onset neurogenetic diseases. The ethical and legal aspects of prenatal testing and preimplantation genetic diagnosis are discussed with reference to case histories. This volume will provide valuable insights for all those involved in dealing with these challenging issues.
Download or read book Neurogenetics written by Nicholas Wood and published by Cambridge University Press. This book was released on 2012-04-12 with total page 251 pages. Available in PDF, EPUB and Kindle. Book excerpt: A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Book Synopsis Genetic Testing for Late Onset Diseases by : Christine Jamieson
Download or read book Genetic Testing for Late Onset Diseases written by Christine Jamieson and published by . This book was released on 2001 with total page 75 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Assessing Genetic Risks by : Institute of Medicine
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Huntington's Disease by : Gillian Bates
Download or read book Huntington's Disease written by Gillian Bates and published by Oxford University Press. This book was released on 2014-03-20 with total page 558 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of Huntington's Disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002. Completely updated and expanded, chapters in this volume are organized in five sections: · Clinical aspects of Huntington's disease, including updated chapters on historical perspectives, neurological, neuropsychiatric, and neuropsychological aspects, and new chapters on juvenile Huntington's and the premanifest and early stages · The genetics of Huntington's disease, including new information on its epidemiology discussions of new testing guidelines · Neurobiology, including recent insights into correlations between pathology and symptoms and a new chapter on neuronal circuitry · The molecular biology of Huntington's disease, including new chapters on the normal function of huntingtin, the molecular pathogenesis of Huntington's disease and the peripheral pathology of the disorder, and an extensively updated chapter on its structural biology · An updated description of the comprehensive care for Huntington's disease, featureing a new chapter on preclinical therapeutics and a completely rewritten chapter on the state of the art of experimental therapeutics and clinical trials.
Download or read book Neurogenetics written by Nicholas Wood and published by Cambridge University Press. This book was released on 2012-04-12 with total page 251 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field.
Book Synopsis Neuroacanthocytosis Syndromes by : Adrian Danek
Download or read book Neuroacanthocytosis Syndromes written by Adrian Danek and published by Springer Science & Business Media. This book was released on 2004-11-19 with total page 310 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Prenatal and Preimplantation Diagnosis by : Joann Paley Galst
Download or read book Prenatal and Preimplantation Diagnosis written by Joann Paley Galst and published by Springer. This book was released on 2015-08-26 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book aims to expand the awareness and understanding of the emotional sequelae of prenatal/preimplantation diagnosis, prenatal decision-making, pregnancy interruption for fetal anomaly, multifetal reduction for high-order multifetal pregnancies and preimplantation choices involving the selection of embryos. Featuring a multi-disciplinary approach, it examines prenatal and preimplantation diagnosis from medical, legal, ethical and psychosocial perspectives. Prenatal and Preimplantation Diagnosis is an excellent resource for obstetricians, reproductive endocrinologists, clinical geneticists, genetic counselors and mental health professionals seeking to better support patients faced with difficult choices.
Book Synopsis Genetics of Movement Disorders by : Stefan M. Pulst
Download or read book Genetics of Movement Disorders written by Stefan M. Pulst and published by Elsevier. This book was released on 2002-10-25 with total page 585 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis The Genetics of African Populations in Health and Disease by : Muntaser E. Ibrahim
Download or read book The Genetics of African Populations in Health and Disease written by Muntaser E. Ibrahim and published by Cambridge University Press. This book was released on 2019-12-19 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
Book Synopsis A Guide to Genetic Counseling by : Wendy R. Uhlmann
Download or read book A Guide to Genetic Counseling written by Wendy R. Uhlmann and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 644 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.
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.
Book Synopsis Inherited Ataxias by : A. E. Harding
Download or read book Inherited Ataxias written by A. E. Harding and published by Lippincott Williams & Wilkins. This book was released on 1993 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this volume, more than 50 leading international experts review the latest scientific and clinical observations on inherited ataxias. The book demonstrates how molecular genetic studies, as well as recent physiological, neurochemical, and clinical data, have generated new concepts on the nosology of these disorders. Close attention is given to the important practical applications of these new findings - in diagnosis, prognosis, and genetic counseling, in development of tests for prenatal diagnosis and carrier detection, and in the search for more effective therapies. The opening chapter identifies the clinical features that distinguish the various inherited ataxic syndromes and presents a classification based on etiology, mode of inheritance, age of onset, and associated clinical features. A major portion of the book focuses on current clinical and molecular genetic studies of different forms of inherited ataxia. Coverage includes a molecular analysis of the Friedreich's ataxia locus and extensive studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay, ataxia telangiectasia, dominantly inherited spinocerebellar ataxias, Machado-Joseph disease, and inherited prion diseases. The contributors provide detailed information on the various clinical phenotypes of each form of inherited ataxia and thoroughly explain the use of linkage analysis and other molecular genetic techniques to localize and isolate the genes responsible for these diseases. The book also reviews the most significant research findings on neurotransmitters in the cerebellum, on the phosphoinositide second messenger system in cerebellar degenerative disorders, and on oligodendrocyte-associated andmyelin-associated inhibitors of neurite growth in the adult nervous system. The contributors assess recent progress in developing drugs for treatment of ataxias and other cerebellar movement disorders and identify new targets for pharmacological intervention. Experimental therapeutic observations on cerebellar grafting in heredodegenerative ataxia are also presented. This volume is an invaluable reference for clinicians treating patients with ataxias or counseling families at risk for inherited neurological diseases. It is also a rich source of ideas for molecular geneticists and for neuroscientists investigating disorders of the cerebellum.
Book Synopsis Can You Help Me? by : Thomas D. Bird
Download or read book Can You Help Me? written by Thomas D. Bird and published by Oxford University Press, USA. This book was released on 2019 with total page 289 pages. Available in PDF, EPUB and Kindle. Book excerpt: Can You Help Me?: Living in the Turbulent World of Huntington Disease shares the surprising, insightful, challenging, and even encouraging stories of patients and their families who live with Huntington Disease. Having seen patients for more than 40 years, Dr Thomas Bird, a pioneer neurogeneticist, adds a human touch to this genetic brain disease that devastates persons during mid-life when they can least afford it. With a brief history of Huntington Disease and the occasional scientific detail, the true heart of the book is the human experience of the disorder: � The man who cannot stay out of prison because he is addicted to being a burglar. � Another man shoots and kills his roommate while watching television and cannot explain why he did it. � The woman with Huntington Disease copes with her depression by using Texas line dancing. � A twelve year old girl with juvenile Huntington Disease who can barely walk and talk, but her classmates rally around with touching and heartfelt support. � And the 72 year old man with late onset Huntington Disease and severe depression is made worse by ECT, but improved (for a while) with Transcranial Magnetic Stimulation. These are just some of the compelling stories of people of all ages and in all walks of life who feel trapped by a progressive degenerative brain disease from which there is no escape.
Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Book Synopsis Marsden's Book of Movement Disorders by : Ivan Donaldson
Download or read book Marsden's Book of Movement Disorders written by Ivan Donaldson and published by Oxford University Press. This book was released on 2012-03-29 with total page 1512 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
