Prenatal Testing for Late-onset Neurogenetic Diseases

Prenatal Testing for Late-onset Neurogenetic Diseases
Author: G Evers-Kiebooms
Publisher: CRC Press
Total Pages: 242
Release: 2003-12-16
Genre: Medical
ISBN: 0203450299

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.

Neurogenetics

Neurogenetics
Author: Nicholas Wood
Publisher: Cambridge University Press
Total Pages: 251
Release: 2012-04-12
Genre: Medical
ISBN: 052154372X

A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.

Ethical and Legal Issues in Neurology

Ethical and Legal Issues in Neurology
Author: Peter B. Kang
Publisher: Elsevier Inc. Chapters
Total Pages: 32
Release: 2014-01-09
Genre: Medical
ISBN: 0128080841

The field of neurogenetics is moving so rapidly that new discoveries are announced almost weekly. The tools available for the diagnosis of neurogenetic disorders have become powerful and complex, and raise new ethical dilemmas that did not exist just a few years ago. In addition to previous concerns about presymptomatic genetic testing and carrier testing, the widening availability of next-generation sequencing raises concerns about the reporting of incidental findings of unclear significance. Genetically targeted therapies have now been proven to be efficacious for a few neurogenetic diseases, and it is likely that gene therapies and cell-based therapies will soon be applied to other neurologic disorders. These therapies are generally quite expensive compared to other treatments. Given the cost constraints that will be needed in the healthcare system in the United States and other countries, and the likelihood that new genetically targeted therapies will be introduced, society will face difficult questions regarding its obligations to fund expensive therapies both for large populations and for small numbers of patients with rare diseases. Potential conflicts of interest involving both individuals and institutions will need ongoing vigilance. Scientific advances will continue to raise consequential ethical questions in the field of neurogenetics.

Practical Guide to Neurogenetics E-Book

Practical Guide to Neurogenetics E-Book
Author: Thomas T. Warner
Publisher: Elsevier Health Sciences
Total Pages: 343
Release: 2008-11-04
Genre: Medical
ISBN: 0702038458

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.

Genetic Counseling for Adult Neurogenetic Disease

Genetic Counseling for Adult Neurogenetic Disease
Author: Jill S. Goldman
Publisher: Springer
Total Pages: 325
Release: 2014-12-01
Genre: Psychology
ISBN: 1489974822

The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging. A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed: Movement disorders, including Parkinson's disease. Dementias, including Alzheimer's disease. Stroke. Motor neuron diseases. Neuropathies and channelopathies. Adult muscular dystrophies. Neurocutaneous syndromes. Plus a section on neurological and neuropsychological evaluation. This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.

Clinical Neurogenetics, An Issue of Neurologic Clinics

Clinical Neurogenetics, An Issue of Neurologic Clinics
Author: Brent L. Fogel
Publisher: Elsevier Health Sciences
Total Pages: 281
Release: 2013-12-28
Genre: Medical
ISBN: 0323261094

This issue of Neurologic Clinics features a review of clinical neurogenetics as it pertains to the following disorders: Huntington Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome (FXTAS); Lysosomal Storage Diseases; Psychiatric Disorders; Dominant Spinocerebellar Ataxias; Metabolic Disorders; Friedreich Ataxia; ALS; Dementia; Neuromuscular Disorders; Stroke; Epilepsy; and Dystonia.

Neuroacanthocytosis Syndromes

Neuroacanthocytosis Syndromes
Author: Adrian Danek
Publisher: Springer Science & Business Media
Total Pages: 285
Release: 2006-07-09
Genre: Medical
ISBN: 1402028989

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.

Assessing Genetic Risks

Assessing Genetic Risks
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.