Clinical Neurogenetics An Issue Of Neurologic Clinics

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.

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.

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.

Congential myopathies, Muscular dystropies, Glycogen storage diseases of muscle, and Idiopathic and Inflammatory myopathies are presented in this volume of Neurologic Clinics. Topics include: Muscle channelopathies; Pompe disease; Congenital myopathies and muscular dystrophies; Duchenne and Becker muscular dystrophies; Distal myopathies; Limb-girdle muscular dystrophy; Fascioscapulomuneral muscular dystrophy; Myotonic dystrophy; Metabolic and mitochondrial myopathies; Sporadic inclusion body myositis; Toxic myopathies; Idiopathic Inflammatory myopathies; Approach to muscle disease.

As world populations continue to age, the incidence of very common, ultimately fatal neurodegenerative diseases (some of medicine’s most puzzling illnesses) will increase exponentially. Neurogenetic Diagnoses, the Power of Hope, and the Limits of Today’s Medicine explores the diverse impacts and intense meanings of genetic diagnoses for patients suffering from such diseases, and for their family caregivers and clinicians. Through richly-textured, often heart-wrenching longitudinal case studies, Neurogenetic Diagnoses... reveals how extremely difficult it can be for patients to obtain a definitive diagnosis for the cause of their symptoms, even with genetic testing; how, with or without definitive diagnoses, patients and family caregivers strive to come to terms with their situations; and how they are aided (or not) in these endeavors by their doctors. The analysis is framed by increasingly sharp social debate over the consequences of decoding the human genome -- and the impact of genetic technology on our lives.

Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist.

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

This issue of Neurologic Clinics features a review of the latest therapeutic developments in common and less common neurologic disorders and includes the following articles: Latest Data on Platelet Antiaggregants in Stroke Prevention; New Anticoagulants for Atrial Fibrillation Stroke Prevention; Unanswered Questions in Thrombolytic Therapy for Acute Ischemic Stroke; New Strategies for Endovascular Recanalization of Acute Ischemic Stroke; New Developments in the Treatment of Intracerebral Hemorrhage. What is in the horizon?; New Therapies for Unruptured Intracranial Aneurysms; New and Emergency Therapies for Arteriovenous Malformations; Advances and Controversies in the Management of Cerebral Venous Thrombosis in Adults; Epilepsy: Neurostimulation and New Drug Targets; Surgical Treatment of Parkinson's Disease; Deep Brain Stimulation (DBS) in Non-Parkinsonian Movement Disorders and Emerging Technologies, Targets and Therapeutic Promises in DBS; Multiple Sclerosis. New and Emerging Therapies; Advances in the Medical Management of Myasthenia Gravis; Update in the Treatment of Primary Brain Tumors; and Immunotherapy for Alzheimer’s Disease.