Prenatal Testing for Late-onset Neurogenetic Diseases PDF Download
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Author: G Evers-Kiebooms
Publisher: CRC Press
ISBN: 0203450299
Category : Medical
Languages : en
Pages : 242
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Book Description
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.
Author: G Evers-Kiebooms
Publisher: CRC Press
ISBN: 0203450299
Category : Medical
Languages : en
Pages : 242
Get Book Here
Book Description
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.
Author: Nicholas Wood
Publisher: Cambridge University Press
ISBN: 052154372X
Category : Medical
Languages : en
Pages : 251
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Book Description
A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Author: Adrian Danek
Publisher: Springer Science & Business Media
ISBN: 9781402028977
Category : Medical
Languages : en
Pages : 310
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Book Description
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: Wendy R. Uhlmann
Publisher: John Wiley & Sons
ISBN: 1118210530
Category : Medical
Languages : en
Pages : 647
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Book Description
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.
Author: Sara Mole
Publisher: OUP Oxford
ISBN: 019101558X
Category : Medical
Languages : en
Pages : 772
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Book Description
The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
Author: Gillian Bates
Publisher: Oxford Monographs on Medical G
ISBN: 0199929149
Category : Medical
Languages : en
Pages : 513
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Book Description
Preceded by Huntington's disease / [edited by] Gillian Bates, Peter S. Harper, Lesley Jones. 3rd ed. 2002.
Author: Jacob Valk
Publisher: Springer Science & Business Media
ISBN: 366202568X
Category : Medical
Languages : en
Pages : 734
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Book Description
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.
Author: Stefan-M. Pulst
Publisher: Contemporary Neurology
ISBN: 9780195129755
Category : Medical
Languages : en
Pages : 496
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Book Description
Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects, as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.
Author: Udo Rüb
Publisher: Springer
ISBN: 331919285X
Category : Medical
Languages : en
Pages : 154
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Book Description
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: Joann Paley Galst
Publisher: Springer
ISBN: 3319189115
Category : Medical
Languages : en
Pages : 356
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Book Description
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.
