Trials For Cerebellar Ataxias

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Trials for Cerebellar Ataxias

Bing-wen Soong,Mario Manto,Alexis Brice,Stefan M. Pulst
Trials for Cerebellar Ataxias Book PDF

Author : Bing-wen Soong,Mario Manto,Alexis Brice,Stefan M. Pulst
Publisher : Springer Nature
Page : 716 pages
File Size : 55,6 Mb
Release : 2023-05-29
Category : Medical
ISBN : 9783031243455

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Trials for Cerebellar Ataxias by Bing-wen Soong,Mario Manto,Alexis Brice,Stefan M. Pulst Pdf

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.

Genetics of Movement Disorders

Stefan M. Pulst
Genetics of Movement Disorders Book PDF

Author : Stefan M. Pulst
Publisher : Elsevier
Page : 585 pages
File Size : 48,9 Mb
Release : 2002-10-25
Category : Medical
ISBN : 9780080532417

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Genetics of Movement Disorders by Stefan M. Pulst Pdf

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

Inherited Ataxias

A. E. Harding
Inherited Ataxias Book PDF

Author : A. E. Harding
Publisher : Lippincott Williams & Wilkins
Page : 248 pages
File Size : 42,9 Mb
Release : 1993
Category : Medical
ISBN : UCSD:31822008171324

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Inherited Ataxias by A. E. Harding Pdf

In this volume, more than 50 leading international experts review the latest scientific and clinical observations on inherited ataxias. The book demonstrates how molecular genetic studies, as well as recent physiological, neurochemical, and clinical data, have generated new concepts on the nosology of these disorders. Close attention is given to the important practical applications of these new findings - in diagnosis, prognosis, and genetic counseling, in development of tests for prenatal diagnosis and carrier detection, and in the search for more effective therapies. The opening chapter identifies the clinical features that distinguish the various inherited ataxic syndromes and presents a classification based on etiology, mode of inheritance, age of onset, and associated clinical features. A major portion of the book focuses on current clinical and molecular genetic studies of different forms of inherited ataxia. Coverage includes a molecular analysis of the Friedreich's ataxia locus and extensive studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay, ataxia telangiectasia, dominantly inherited spinocerebellar ataxias, Machado-Joseph disease, and inherited prion diseases. The contributors provide detailed information on the various clinical phenotypes of each form of inherited ataxia and thoroughly explain the use of linkage analysis and other molecular genetic techniques to localize and isolate the genes responsible for these diseases. The book also reviews the most significant research findings on neurotransmitters in the cerebellum, on the phosphoinositide second messenger system in cerebellar degenerative disorders, and on oligodendrocyte-associated andmyelin-associated inhibitors of neurite growth in the adult nervous system. The contributors assess recent progress in developing drugs for treatment of ataxias and other cerebellar movement disorders and identify new targets for pharmacological intervention. Experimental therapeutic observations on cerebellar grafting in heredodegenerative ataxia are also presented. This volume is an invaluable reference for clinicians treating patients with ataxias or counseling families at risk for inherited neurological diseases. It is also a rich source of ideas for molecular geneticists and for neuroscientists investigating disorders of the cerebellum.

Cerebellar Disorders

Mario Ubaldo Manto
Cerebellar Disorders Book PDF

Author : Mario Ubaldo Manto
Publisher : Cambridge University Press
Page : 313 pages
File Size : 53,9 Mb
Release : 2010-03-25
Category : Medical
ISBN : 9781139487269

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Cerebellar Disorders by Mario Ubaldo Manto Pdf

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.

Handbook of Ataxia Disorders

Thomas Klockgether
Handbook of Ataxia Disorders Book PDF

Author : Thomas Klockgether
Publisher : CRC Press
Page : 716 pages
File Size : 45,7 Mb
Release : 2000-08-18
Category : Medical
ISBN : 1420002066

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Handbook of Ataxia Disorders by Thomas Klockgether Pdf

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.

Polyglutamine Disorders

Clévio Nóbrega,Luís Pereira de Almeida
Polyglutamine Disorders Book PDF

Author : Clévio Nóbrega,Luís Pereira de Almeida
Publisher : Springer
Page : 469 pages
File Size : 52,7 Mb
Release : 2018-02-09
Category : Medical
ISBN : 9783319717791

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Polyglutamine Disorders by Clévio Nóbrega,Luís Pereira de Almeida Pdf

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.

Neurogenetics

Stefan-M. Pulst
Neurogenetics Book PDF

Author : Stefan-M. Pulst
Publisher : Contemporary Neurology
Page : 496 pages
File Size : 53,9 Mb
Release : 2000
Category : Medical
ISBN : 019512975X

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Neurogenetics by Stefan-M. Pulst Pdf

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.

Neurological Physical Therapy

Toshiaki Suzuki
Neurological Physical Therapy Book PDF

Author : Toshiaki Suzuki
Publisher : BoD – Books on Demand
Page : 236 pages
File Size : 54,6 Mb
Release : 2017-05-10
Category : Medical
ISBN : 9789535131137

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Neurological Physical Therapy by Toshiaki Suzuki Pdf

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.

The Paroxysmal Disorders

Bettina Schmitz,Barbara Tettenborn,Donald L. Schomer
The Paroxysmal Disorders Book PDF

Author : Bettina Schmitz,Barbara Tettenborn,Donald L. Schomer
Publisher : Cambridge University Press
Page : 128 pages
File Size : 47,9 Mb
Release : 2010-09-09
Category : Medical
ISBN : 9781139487566

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The Paroxysmal Disorders by Bettina Schmitz,Barbara Tettenborn,Donald L. Schomer Pdf

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.

Cerebellar Disorders in Children

Eugen Boltshauser,Jeremy Schmahmann
Cerebellar Disorders in Children Book PDF

Author : Eugen Boltshauser,Jeremy Schmahmann
Publisher : Mac Keith Press
Page : 0 pages
File Size : 41,9 Mb
Release : 2012-03-05
Category : Medical
ISBN : 1907655018

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Cerebellar Disorders in Children by Eugen Boltshauser,Jeremy Schmahmann Pdf

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

The Cerebellum and Cognition

Anonim
The Cerebellum and Cognition Book PDF

Author : Anonim
Publisher : Academic Press
Page : 709 pages
File Size : 53,8 Mb
Release : 1997-10-02
Category : Science
ISBN : 9780080857756

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The Cerebellum and Cognition by Anonim Pdf

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

Uncommon Causes of Movement Disorders

Néstor Gálvez-Jiménez,Paul Tuite
Uncommon Causes of Movement Disorders Book PDF

Author : Néstor Gálvez-Jiménez,Paul Tuite
Publisher : Cambridge University Press
Page : 351 pages
File Size : 42,7 Mb
Release : 2011-05-12
Category : Medical
ISBN : 9781139495752

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Uncommon Causes of Movement Disorders by Néstor Gálvez-Jiménez,Paul Tuite Pdf

A large number of neurological conditions result in abnormal movements of the body; these are often characterized by changes in coordination and altered speed of voluntary movement. Many obscure diseases, conditions and environmental insults can cause movement disorders but these are often overlooked. This volume expands and differentiates the many varied clinical presentations of movement disorders. Written by an international team of authors, including some of the most prominent clinicians in the field, disorders are defined and expanded in a clinically useful manner. Pathophysiological theories, genetic discoveries, new classifications, differential diagnoses and therapies are discussed extensively. Uncommon Causes of Movement Disorders provides a broad and comprehensive review of the field, concentrating on conditions infrequently seen but essential for practitioners to recognize in order to implement appropriate management. This is a key text for movement disorders specialists and general neurologists at all stages of their career.

Spinocerebellar Ataxia

José Gazulla
Spinocerebellar Ataxia Book PDF

Author : José Gazulla
Publisher : BoD – Books on Demand
Page : 210 pages
File Size : 53,8 Mb
Release : 2012-04-18
Category : Medical
ISBN : 9789535105428

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Spinocerebellar Ataxia by José Gazulla Pdf

The purpose of this book has been to depict as many biochemical, genetic and molecular advances as possible, in the vast field of the spinocerebellar ataxias.

Oxford Textbook of Vertigo and Imbalance

Adolfo Bronstein
Oxford Textbook of Vertigo and Imbalance Book PDF

Author : Adolfo Bronstein
Publisher : OUP Oxford
Page : 368 pages
File Size : 47,6 Mb
Release : 2013-02-21
Category : Medical
ISBN : 9780191642067

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Oxford Textbook of Vertigo and Imbalance by Adolfo Bronstein Pdf

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.

Localization in Clinical Neurology

Paul W. Brazis,Joseph C. Masdeu,José Biller
Localization in Clinical Neurology Book PDF

Author : Paul W. Brazis,Joseph C. Masdeu,José Biller
Publisher : Lippincott Williams & Wilkins
Page : 665 pages
File Size : 46,7 Mb
Release : 2012-03-29
Category : Medical
ISBN : 9781451153583

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Localization in Clinical Neurology by Paul W. Brazis,Joseph C. Masdeu,José Biller Pdf

This classic work is written for frontline clinicians who need to ask "Where is it?" when diagnosing a neurological disorder, helping them reach a diagnosis with greater accuracy and avoiding unnecessary testing. Updated to reflect the latest literature, enhanced with color anatomical diagrams and additional tables, Localization in Clinical Neurology is a cornerstone in clinical neurology.