Trials For Cerebellar Ataxias
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| Author | : Bing-wen Soong |
| Publisher | : Springer Nature |
| Total Pages | : 716 |
| Release | : 2023-05-29 |
| Genre | : Medical |
| ISBN | : 3031243455 |
Despite the critical importance of the cerebellum in brain function, the scientific community still lacks effective treatments for most cerebellar ataxias. This book provides a link between the pathogenesis and therapies of cerebellar ataxias while also providing a comprehensive assessment of the preclinical and clinical trials dedicated to cerebellar ataxias over the past 20 years of progress. This is the first book fully dedicated to the trials and therapies of these disorders. It is a truly authoritative and comprehensive reference, and comes at a time of major advances in genetic tools and neuroimaging assessments. The coverage begins by laying a foundation of the basic science of the cerebellum and ataxias, proceeds to discuss biomarkers and the tools of trials, offers guidelines on conducting trials, and then explores the full range of therapeutics and their trials, including gene therapy and cell transplantation. The authors are top experts on cerebellar research and the contributing authors have all made seminal contributions in the field.
| Author | : Stefan M. Pulst |
| Publisher | : Elsevier |
| Total Pages | : 585 |
| Release | : 2002-10-25 |
| Genre | : Medical |
| ISBN | : 0080532411 |
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
| Author | : Mario Ubaldo Manto |
| Publisher | : Cambridge University Press |
| Total Pages | : 313 |
| Release | : 2010-03-25 |
| Genre | : Medical |
| ISBN | : 1139487264 |
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.
| Author | : Stefan-M. Pulst |
| Publisher | : Contemporary Neurology |
| Total Pages | : 496 |
| Release | : 2000 |
| Genre | : Medical |
| ISBN | : 9780195129755 |
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 | : Toshiaki Suzuki |
| Publisher | : BoD – Books on Demand |
| Total Pages | : 236 |
| Release | : 2017-05-10 |
| Genre | : Medical |
| ISBN | : 9535131133 |
Physical therapy services may be provided alongside or in conjunction with other medical services. They are performed by physical therapists (known as physiotherapists in many countries) with the help of other medical professionals. This book consists of 12 chapters written by several professionals from different parts of the world. The book covers different subjects, such as the effects of physical therapy, motor imagery, neuroscience-based rehabilitation for neurological patients, and applications of robotics for stroke and cerebral palsy. We hope that this book will open up new directions for physical therapists in the field of neurological physical therapy.
| Author | : Clévio Nóbrega |
| Publisher | : Springer |
| Total Pages | : 467 |
| Release | : 2018-02-09 |
| Genre | : Medical |
| ISBN | : 3319717790 |
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.
| Author | : Bettina Schmitz |
| Publisher | : Cambridge University Press |
| Total Pages | : |
| Release | : 2010-09-09 |
| Genre | : Medical |
| ISBN | : 1139487566 |
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.
| Author | : Adolfo Bronstein |
| Publisher | : OUP Oxford |
| Total Pages | : 375 |
| Release | : 2013-02-21 |
| Genre | : Medical |
| ISBN | : 0191642061 |
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.
| Author | : Eugen Boltshauser |
| Publisher | : Mac Keith Press |
| Total Pages | : 0 |
| Release | : 2012-03-05 |
| Genre | : Medical |
| ISBN | : 9781907655012 |
Clinics in Developmental Medicine No. 191-192 This clinically orientated text by an international group of experts is the first definitive reference book on disorders of the cerebellum in children. It presents a wealth of practical clinical experience backed up by a strong scientific basis for the information and guidance given. The first part sets out the theoretical underpinnings of cerebellar disorders. This is followed by sections on clinical conditions grouped according to common characteristics such as aetiology and symptomatology. The descriptions of the clinical conditions each systematically cover, as appropriate, epidemiology, prevalence, diagnostic criteria, clinical features (including course and prognosis), pathophysiology, genetics, investigations, differential diagnosis, and management and treatment. This book will be an invaluable resource for all those caring for children affected by cerebellar disorders, including malformations, genetic and metabolic disorders, acquired cerebellar damage, vascular disorders and acute ataxias. This comprehensive reference text on cerebellar disorders in children includes chapters on cerebellar development, prenatal cerebellar imaging, imaging of the posterior fossa, with coverage of a broad range of malformations, genetic and metabolic disorders involving the cerebellum, prenatal cerebellar disruptions (as related to prematurity), vascular disorders, tumors and paraneoplastic syndromes, as well as acute ataxia and trauma to the posterior fossa. Numerous checklists are provided to assist in the differential diagnosis of clinical signs and neuroimaging findings. Readership: Paediatric neurologists, paediatricians, neurologists, developmental paediatricians, neuroimaging specialists, geneticists, neonatologists
| Author | : Louis R. Caplan |
| Publisher | : Cambridge University Press |
| Total Pages | : 609 |
| Release | : 2015-04-02 |
| Genre | : Medical |
| ISBN | : 0521763061 |
A comprehensive review of vascular disease in the vertebrobasilar circulation by one of the world's leading authorities, fully updated throughout.
