Trials for Cerebellar Ataxias PDF Download
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Author: Bing-wen Soong
Publisher: Springer Nature
ISBN: 3031243455
Category : Medical
Languages : en
Pages : 716
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Book Description
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: Bing-wen Soong
Publisher: Springer Nature
ISBN: 3031243455
Category : Medical
Languages : en
Pages : 716
Get Book Here
Book Description
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
ISBN: 0080532411
Category : Medical
Languages : en
Pages : 585
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Book Description
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
ISBN: 1139487264
Category : Medical
Languages : en
Pages : 313
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Book Description
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: Clévio Nóbrega
Publisher: Springer
ISBN: 3319717790
Category : Medical
Languages : en
Pages : 467
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Book Description
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: Toshiaki Suzuki
Publisher: BoD – Books on Demand
ISBN: 9535131133
Category : Medical
Languages : en
Pages : 236
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Book Description
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: Eugen Boltshauser
Publisher: Mac Keith Press
ISBN: 9781907655012
Category : Medical
Languages : en
Pages : 0
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Book Description
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: Bettina Schmitz
Publisher: Cambridge University Press
ISBN: 1139487566
Category : Medical
Languages : en
Pages :
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Book Description
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: Joseph H. Friedman
Publisher: Cambridge University Press
ISBN: 1316299368
Category : Medical
Languages : en
Pages : 209
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Book Description
Medications that may produce movement disorders are widely used. The resulting disorders are often highly disconcerting for the patient and their relatives, especially when the connection between medication and disorder is not recognized. However, ascribing an adverse drug effect to medication exposure is often difficult, especially when the side effect is rare. Covering various drugs - including the major classes of medications working primarily on the brain, specifically antipsychotics and antidepressants – this all-encompassing review of medication-induced movement disorders aids early recognition and improved treatment. The problem of what to do when the offending medication cannot be reduced is also reviewed. It discusses the best options for evaluation and treatment, including medical imaging and deep brain stimulation, and guides the clinician in managing the disorder, making this a vital reference for medical specialists and consultants in neurology and neuropharmacology and any clinician seeing patients on medications crossing the blood-brain barrier.
Author: Kapil D. Sethi
Publisher: Springer Nature
ISBN: 3030537218
Category : Medical
Languages : en
Pages : 145
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Book Description
This book addresses the challenges in the differential diagnosis and management of paroxysmal movement disorders. It provides the latest information on the genetics and pathophysiology, neurophysiology and neuroimaging of the core group of disorders in the field, namely the paroxysmal dyskinesias (PxD). Focused and concise, this guide features chapters that discuss other conditions that may be paroxysmal such as, episodic ataxia, startle syndromes and other more complicated groups of paroxysmal movement disorders such as ATP1A3 spectrum disorders. A chapter on secondary (acquired) paroxysmal dyskinesia highlights medical and other disorders that may result in paroxysmal dyskinesia. The book features a particularly nuanced chapter that discusses recent discoveries in the genetic aspects of PxD, relaying that paroxysmal dyskinesias are not channelpathies, but in fact are synaptophies and transportopathies. Additionally, expertly written chapters are supplemented by high quality images, tables, and videos. Paroxysmal Movement Disorders: A Practical Guide is primarily written to educate the reader on how to make a syndromic diagnosis of paroxysmal movement disorders and how to build the diagnostic work-up accordingly, as well as how to manage patients with paroxysmal movement disorders.
Author: Mark S. LeDoux
Publisher: Elsevier
ISBN: 0080470564
Category : Science
Languages : en
Pages : 821
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Book Description
The use of animal models is a key aspect of scientific research in numerous fields of medicine. This book vigorously examines the important contributions and application of animal models to the understanding of human movement disorders and will serve as an essential resource for basic neuroscientists engaged in movement disorders research. Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in different animal models to the clinical features, pathophysiology and treatment of human movement disorders. A vital feature of this book is an accompanying DVD with video clips of human movement disorders and their corresponding animal models. The book is divided into sections on Parkinson disease, Huntington disease, dystonia, tremor, paroxysmal movement disorders, ataxia, myoclonus, restless legs syndrome, drug-induced movement disorders, multiple system atrophy, progressive supranuclear palsy/corticobasal degeneration and spasticity. This book serves as an essential resource for both clinicians interested in the science being generated with animal models and basic scientists studying the pathogenesis of particular movement disorders.* Provides a single comprehensive resource on animal models of movement disorders that academic clinicians, translational researchers, and basic neuroscientists can refer to* Includes contributions by expert movement disorder clinicians and top-level researchers in the field* Features a DVD containing over 170 video clips of human movement disorders and the corresponding animal models
