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.

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

Neurogenetics is a growing field, providing a clear link between clinical characteristics of phenotypes and exact molecular tests to reach a specific diagnosis. Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. The first section introduces the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. Internationally contributed, this book will become the essential reference guide for neurologist. - Reviews genetic testing for diagnostic confirmation, including carrier testing and prenatal diagnosis - Explores various therapeutic strategies based on genetic interventions - Discusses when a neurologic problem may have an underlying genetic cause

In this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions. The 31 chapters of this book cover a broad range of neurogenetic disorders, highlighting key issues with regards to the clinical assessment, diagnosis and management.

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.

Muscle Biopsy: A Practical Approach gives you all of the unparalleled guidance necessary to effectively interpret and diagnose muscle biopsy specimens for the full range of diseases in both adults and children. Authored by Dr. Victor Dubowitz, an internationally renowned figure in the field of muscle disease, this medical reference book takes an integrated approach to diagnosis and assessment of muscle biopsies that includes clinical, genetic, biochemical, and pathological features. It's the comprehensive, up-to-date coverage you need to evaluate muscle disorders with confidence. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Bridge the gap between clinical syndromes/disorders and their underlying pathologies with the guidance of muscle disease expert, Dr. Victor Dubowitz, who skillfully guides you through the complexities of pathologic diagnoses and their implications for clinical treatment. Understand and apply expert techniques for obtaining a muscle biopsy, and familiarize yourself with the histochemical, histological, electron microscopical, and molecular appearance of normal muscle and the pathology of individual muscle disease. Apply all of the latest diagnostic techniques for neurodegenerative and genetic diseases with a brand-new chapter on myopathies associated with systemic disorders and aging, and use advanced techniques such as immunohistochemistry and immunoblotting to produce the most accurate diagnoses possible for a full range of muscle disorders. Stay current in practice with state-of-the-art coverage of genetic markers for individual conditions and antibodies used in immunocytochemical diagnosis. Understand the genetics of muscular dystrophies with absolute clarity through the use of brilliantly simple diagrams and tables, and compare your specimens to a wealth of superb color images capturing the full spectrum of muscle biopsy findings. Take advantage of international insights and fresh perspectives in muscle diseases and disorders from new author Dr. Anders Oldfors, from the Department of Pathology, University of Goteborg, Sweden.

This book brings a pioneering interactive approach to the teaching of neuroanatomy, using over 100 actual clinical cases and high-quality radiologic images to bring the subject to life. This edition is fully updated with the latest advances and includes several exciting new cases and a 2-year subscription to the interactive eBook.

Neurology is primarily characterized by a variety of diseases which seem very similar and are therefore difficult to distinguish between. Skill at differential diagnosis is therefore absolutely paramount. Neurological Differential Diagnosis is a streamlined handbook of prioritized differential diagnosis, to be used both in clinical practice and for exam review. By presenting differential diagnosis in order of frequency and importance, this book provides a practical handbook for clinicians in training, as well as a potential resource for quick board review. Whilst the book covers the most important syndromes and disease entities, readers are referred to other texts for more exhaustive differentials. By limiting differentials in this way - to the most likely and most serious diagnoses - the reader can more easily recall relevant disease processes when faced with a particular clinical situation, whether it be a patient in the emergency room or a difficult question on the board examination. The book specifically targets neurology residents and fellows, with overlap to neurosurgery and psychiatry. Internal medicine physicians with an interest in neurological problems and medical students looking for an edge in clinical neuroscience would also benefit from this text. The content is primarily mid-level material, in a pedagogic format. In order to organize the students' thought processes concise tables and line drawing templates are included. The book is organized into broad chapters by type of disorder and some overlap occurs between particular chapters.

A practical, dynamic resource for practicing neurologists, clinicians and trainees, Bradley and Daroff's Neurology in Clinical Practice, Eighth Edition, offers a straightforward style, evidence-based information, and robust interactive content supplemented by treatment algorithms and images to keep you up to date with all that's current in this fast-changing field. This two-volume set is ideal for daily reference, featuring a unique organization by presenting symptom/sign and by specific disease entities—allowing you to access content in ways that mirror how you practice. More than 150 expert contributors, led by Drs. Joseph Jankovic, John C. Mazziotta, Scott L. Pomeroy, and Nancy J. Newman, provide up-to-date guidance that equips you to effectively diagnose and manage the full range of neurological disorders. - Covers all aspects of today's neurology in an easy-to-read, clinically relevant manner. - Allows for easy searches through an intuitive organization by both symptom and grouping of diseases. - Features new and expanded content on movement disorders, genetic and immunologic disorders, tropical neurology, neuro-ophthalmology and neuro-otology, palliative care, pediatric neurology, and new and emerging therapies. - Offers even more detailed videos that depict how neurological disorders manifest, including EEG and seizures, deep brain stimulation for PD and tremor, sleep disorders, movement disorders, ocular oscillations, EMG evaluation, cranial neuropathies, and disorders of upper and lower motor neurons, as well as other neurologic signs. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.