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

Download or read book Inherited Chorioretinal Dystrophies written by Bernard Puech and published by Springer. This book was released on 2014-07-19 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.

Download or read book Neurogenetics written by Stefan-M. Pulst and published by Contemporary Neurology. This book was released on 2000 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Cerebellar Disorders written by Mario Ubaldo Manto and published by Cambridge University Press. This book was released on 2010-03-25 with total page 313 pages. Available in PDF, EPUB and Kindle. Book excerpt: During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.

Download or read book Polyglutamine Disorders written by Clévio Nóbrega and published by Springer. This book was released on 2018-02-09 with total page 467 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies’ development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression. Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington’s disease (HD); spinal–bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.

Download or read book Encyclopedia of Movement Disorders written by and published by Academic Press. This book was released on 2010-02-26 with total page 1633 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Encyclopedia of Movement Disorders is a comprehensive reference work on movement disorders, encompassing a wide variety of topics in neurology, neurosurgery, psychiatry and pharmacology. This compilation will feature more than 300 focused entries, including sections on different disease states, pathophysiology, epidemiology, genetics, clinical presentation, diagnostic tools, as well as discussions on relevant basic science topics. This Encyclopedia is an essential addition to any collection, written to be accessible for both the clinical and non-clinical reader. Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in the laboratory to the clinical features, pathophysiology and treatment of movement disorders. The Encyclopedia targets a broad readership, ranging from students to general physicians, basic scientists and Movement Disorder specialists. Published both in print and via Elsevier’s online platform of Science Direct, this Encyclopedia will have the enhanced option of integrating traditional print with online multimedia. Connects experimental findings made in the laboratory to the clinical features, pathophysiology, and treatment of movement disorders Encompasses a wide variety of topics in neurology neurosurgery, psychiatry, and pharmacology Written for a broad readership ranging from students to general physicians, basic scientists, and movement disorder specialists

Download or read book Handbook of Ataxia Disorders written by Thomas Klockgether and published by CRC Press. This book was released on 2000-08-18 with total page 716 pages. Available in PDF, EPUB and Kindle. Book excerpt: This timely reference presents, for the first time, new findings in molecular genetics that are applicable to the epidemiology, pathogenesis, neuropathology, clinical features, and management of ataxia-bridging the gap between scientific and clinical practice. Organized by the distinctive ataxia disorders, their pathogenesis, and management-facilitating quick and efficient diagnoses! Providing complementary sections on the anatomy of the spinocerebellar system, its normal function, and a history of ataxia research and management, the Handbook of Ataxia Disorders clarifies the impact of identifying the molecular causes of ataxia offers in-depth analysis of dominant and recessive and nonhereditary ataxia disorders explores the vital connection between the genotypes and phenotypes of various degenerative ataxia disorders and more! Written by more than 60 international experts and supplemented with over 2600 literature references, photographs, micrographs, drawings, and tables, the Handbook of Ataxia Disorders is an essential and useful reference for clinical neurologists and neuropathologists, neuropediatricians, geneticists, physiatrists, and medical school students in these disciplines.

Download or read book A Family Disease written by Dana Lorene Creighton and published by McFarland. This book was released on 2021-01-11 with total page 203 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dana Creighton and her mother both were affected by the same inherited cerebellar degeneration, known as ataxia--a loss of control over body movements. Both were treated by a healthcare system that failed them in different ways. Yet their experiences were disparate. Creighton eventually found the right tools to piece together meaning in her life; her mother resisted accepting her condition, in part because doctors repeatedly said nothing was wrong with her. Twenty-five years after her mother's suicide, Creighton's memoir finds striking similarities and differences in their lives and traces a lineage of family trauma. Drawing on research in neuroplasticity, medical records, personal correspondence and genealogy, the author highlights the gap between the lived experience of a debilitating ailment and the impersonal aims of clinicians. She shows how the stories parents tell themselves about living with a genetic disorder influences how they communicate it to their children.

Download or read book Stroke Syndromes 3ed written by Louis R. Caplan and published by Cambridge University Press. This book was released on 2012-07-12 with total page 633 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive survey of dysfunction due to stroke, this revised edition remains the definitive guide to stroke patterns and syndromes.

Download or read book Syndromes Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Download or read book The Cerebellum and Cognition written by and published by Academic Press. This book was released on 1997-10-02 with total page 709 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Cerebellum and Cognition pulls together a preeminent group of authors. The cerebellum has been previously considered as a highly complex structure involved only with motor control. The cerebellum is essential to nonmotor functions, and recent research has revealed new medically important roles of the cerebellum and cognitive processes. - Selected for inclusion in Doody's Core Titles 2013, an essential collection development tool for health sciences libraries - Comprehensive coverage of cerebellum in motor control and cognition - New developments regarding the cerebellum and motor systems - Therapeutic implications of cerebellar contributions to cognition - Preeminent group of contributors

Download or read book Handbook of the Cerebellum and Cerebellar Disorders written by Mario Manto and published by Springer. This book was released on 2012-08-04 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Our knowledge of cerebellar functions and cerebellar disorders, called ataxias, is increasing considerably. Studies of the cerebellum are now a central focus in neuroscience. During the last four decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and biology of mental processes, behavioral symptoms, and emotion. It is now accepted that the cerebellum acts as a cognitive operator in learning, perception, and attention. Moreover, major improvements in our assessment of in vivo cerebellar architecture using imaging techniques have occurred. A typical example is the accurate description of cerebellar anatomy during fetal development with MRI, a progress which has direct impacts on patient care. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias. More than 20 new genes have been identified these last 10 years. Only for dominant ataxias, more than 30 diseases have now been unravelled. The number of ataxic disorders will increase with aging, the cerebellum being the structure of the brain with the most important loss of neurons with age. More than 300 different cerebellar disorders are encountered during daily practice, but we are missing a single source of information explaining their pathogenesis. Despite the immense amount of knowledge acquired about the cerebellar circuitry these last years, a large book covering the neuroscience of the cerebellum is missing. The goal of this endeavour is to bring up to date information relevant for basic science and also for clinical activities. To reach this goal, the most renowned authors are gathered in a unique and in-depth book with a format of a handbook. We emphasize the connections between molecular findings, imaging features, behavioural/neuropsychological aspects, and clinical implications.

Download or read book Oxford Textbook of Vertigo and Imbalance written by Adolfo Bronstein and published by OUP Oxford. This book was released on 2013-02-21 with total page 375 pages. Available in PDF, EPUB and Kindle. Book excerpt: Vertigo, dizziness, and imbalance rank amongst the most common presenting symptoms in neurology, ENT, geriatric medicine, and general practice. These symptoms can originate from many different organs and systems, such as the inner ear, general medical conditions, neurological and psychological disorders. The Oxford Textbook of Vertigo and Imbalance provides an up-to-date summary of the scientific basis, clinical diagnosis, and management of disorders leading to dizziness and poor balance. This textbook is conceptually divided into three sections, detailing the scientific basis, general clinical issues, and specific diseases diagnosed in clinical practice that are responsible for complaints of dizziness and imbalance. Individual chapters address benign paroxysmal positional vertigo, vestibular migraine, vestibular neuritis, stroke, and Ménière's disease. Additional chapters follow a syndrome-based approach and cover multiple conditions, including cerebellar disorders, bilateral vestibular failure and gait, and psychological disorders. The print edition is complemented by an online version, which allows access to the full content of the textbook, contains links from the references to primary research journal articles, allows full text searches, and provides access to figures and tables that can be downloaded to PowerPoint. It serves a useful clinical reference for neurologists, otorhinolaryngologists, audio-vestibular physicians, and senior trainees in those specialties.

Download or read book The Paroxysmal Disorders written by Bettina Schmitz and published by Cambridge University Press. This book was released on 2010-09-09 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: The paroxysmal disorders present neurologists and other medical professionals with diagnostic problems across a range of disorders, including multiple sclerosis, migraine and epilepsy. This new English language edition of a compendium of the paroxysmal disorders, originally published in German as Paroxysmale Störugen in der Neurologie, is an informative and practical resource for clinicians, which provides invaluable help with differential diagnosis and management. Fully updated throughout, this new edition comprehensively covers the entire spectrum of the paroxysmal disorders, including sudden falls, headache, vertigo attacks, memory loss, visual disturbances, seizures and anxiety. Each chapter is practice oriented, covering definitions, etiology, epidemiology, diagnosis, examination techniques and therapy. Detailed guidelines for gathering case-histories, essential for accurate diagnosis, are also provided. Important reading for clinicians, professionals and academic researchers working in neurology, psychiatry, epilepsy, internal medicine and ENT.

Download or read book Genetics in Ophthalmology written by B. Wissinger and published by Karger Medical and Scientific Publishers. This book was released on 2003-01-01 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.

Download or read book Cerebellum as a CNS Hub written by Hidehiro Mizusawa and published by Springer Nature. This book was released on 2021-11-10 with total page 543 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on the 75th Fujihara Seminar held in December 2018 in Tokyo, Japan, this volume explores the latest research on the cerebellum. Contributors seek to examine the cerebellum's role as a unique hub for brain activity and discover new information about its purpose. The discussion is broad, ranging from evolutionary topics to therapeutic strategy and addresses both physiology and pathology. Subjects covered include anatomy, information processing, complex spikes, plasticity, modeling, and spinocerebellar ataxias. The volume is intended to set the stage for the future of cerebellar research and guide both basic and clinical researchers.

Download or read book Spinocerebellar Ataxia written by Patricia Bozzetto Ambrosi and published by BoD – Books on Demand. This book was released on 2022-06-28 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is about spinocerebellar ataxia (SCA), which is among the most challenging pathologies in the neurological landscape. It covers basic concepts, functional classification, and new approaches to medical and non-medical treatment including rehabilitation/palliative care approaches. The volume also describes a wide spectrum of generalities and particularities about various forms of clinical and genetic presentations of ACS that have life-threatening characteristics and long-standing presentation with tremendous variability in presentation and clinical severity. In addition, the book presents important aspects of cerebellar anatomy, nutrition impact, genetic subtypes, and functional classification of medical and non-medical interventions related to stem cells, rehabilitation, and palliative care.