Hereditary Ataxias

Author : A. E. Harding
Publisher : Lippincott Williams & Wilkins
Page : 248 pages
File Size : 50,7 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.

Author : A. E. Harding
Publisher : Unknown
Page : 284 pages
File Size : 44,6 Mb
Release : 1984
Category : Medical
ISBN : UOM:39015007134540

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The Hereditary Ataxias and Related Disorders by A. E. Harding Pdf

Author : Mario Ubaldo Manto
Publisher : Cambridge University Press
Page : 313 pages
File Size : 45,6 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.

Author : Lene Werdelin
Publisher : Unknown
Page : 138 pages
File Size : 40,9 Mb
Release : 1986
Category : Ataxia
ISBN : UGA:32108017967418

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Hereditary Ataxias by Lene Werdelin Pdf

Author : Thomas Klockgether
Publisher : CRC Press
Page : 716 pages
File Size : 47,8 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.

Author : Stefan-M. Pulst
Publisher : Contemporary Neurology
Page : 496 pages
File Size : 44,8 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.

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

Author : Shamim Ahmad
Publisher : Springer Science & Business Media
Page : 282 pages
File Size : 47,6 Mb
Release : 2011-01-11
Category : Medical
ISBN : 9781441964489

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Diseases of DNA Repair by Shamim Ahmad Pdf

Since this book is geared to be used by varied groups of readers such as advanced students and instructors in the fields of biology and medicine, scientists and more importantly clinicians, it is considered important to provide brief accounts of the basics of DNA damage, repair, mutagenesis and cancer. The purpose of this book is to present an updated detailed account of some important additional diseases of DNA repair. It has not been possible to cover all the DNA repair deficient diseases in this volume, hence diseases such as Bloom’s syndrome, Werner’s syndrome, Nijmegen breakage syndrome, ataxia telangiectasia‐like disorder, RA D 50 deficiency, RIDDLE syndrome and others will be presented in a forthcoming volume.

Author : Bettina Schmitz,Barbara Tettenborn,Donald L. Schomer
Publisher : Cambridge University Press
Page : 128 pages
File Size : 50,5 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.

Author : Departments of Neurology R. John Leigh Professor, Neuroscience Otolaryngology and Biomedical Engineering Case Western Reserve University University Hospitals and Veterans Affairs Medical Center Cleveland Ohio,Departments of Neurology David S. Zee Professor, Ophthalmology Otolaryngology Head and Neck Surgery and Neuroscience
Publisher : Oxford University Press, USA
Page : 658 pages
File Size : 48,6 Mb
Release : 1999-08-26
Category : Medical
ISBN : 9780198029700

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The Neurology of Eye Movements : Text and CD-ROM by Departments of Neurology R. John Leigh Professor, Neuroscience Otolaryngology and Biomedical Engineering Case Western Reserve University University Hospitals and Veterans Affairs Medical Center Cleveland Ohio,Departments of Neurology David S. Zee Professor, Ophthalmology Otolaryngology Head and Neck Surgery and Neuroscience Pdf

The Neurology of Eye Movements provides clinicians with a synthesis of current scientific information that can be applied to the diagnosis and treatment of disorders of ocular motility. Basic scientists will also benefit from descriptions of how data from anatomical, electrophysiological, pharmacological, and imaging studies can be directly applied to the study of disease. By critically reviewing such basic studies, the authors build a conceptual framework that can be applied to the interpretation of abnormal ocular motor behavior at the bedside. These syntheses are summarized in displays, new figures, schematics and tables. Early chapters discuss the visual need and neural basis for each functional class of eye movements. Two large chapters deal with the evaluation of double vision and systematically evaluate how many disorders of the central nervous system affect eye movements. This edition has been extensively rewritten, and contains many new figures and an up-to-date section on the treatment of abnormal eye movements such as nystagmus. A major innovation has been the development of an option to read the book from a compact disc, make use of hypertext links (which bridge basic science to clinical issues), and view the major disorders of eye movements in over 60 video clips. This volume will provide pertinent, up-to-date information to neurologists, neuroscientists, ophthalmologists, visual scientists, otalaryngologists, optometrists, biomedical engineers, and psychologists.

Author : Manuel Posada de la Paz,Domenica Taruscio,Stephen C. Groft
Publisher : Springer
Page : 667 pages
File Size : 47,9 Mb
Release : 2017-12-06
Category : Medical
ISBN : 9783319671444

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Rare Diseases Epidemiology: Update and Overview by Manuel Posada de la Paz,Domenica Taruscio,Stephen C. Groft Pdf

The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.

Author : Mario Manto,Donna L. Gruol,Jeremy Schmahmann,Noriyuki Koibuchi,Ferdinando Rossi
Publisher : Springer
Page : 0 pages
File Size : 54,6 Mb
Release : 2012-08-04
Category : Medical
ISBN : 9400713320

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Handbook of the Cerebellum and Cerebellar Disorders by Mario Manto,Donna L. Gruol,Jeremy Schmahmann,Noriyuki Koibuchi,Ferdinando Rossi Pdf

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.

Author : Néstor Gálvez-Jiménez,Paul Tuite
Publisher : Cambridge University Press
Page : 351 pages
File Size : 40,5 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.

Author : Nicole I. Wolf,Michel Koenig
Publisher : Elsevier Inc. Chapters
Page : 732 pages
File Size : 44,5 Mb
Release : 2013-04-24
Category : Medical
ISBN : 9780128084588

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Pediatric Neurology Part III by Nicole I. Wolf,Michel Koenig Pdf

The hereditary ataxias with onset in childhood are a group of heterogeneous disorders, usually with autosomal recessive inheritance. In many of them, magnetic resonance imaging (MRI) shows cerebellar atrophy. The most prominent exception to this is Friedreich's ataxia, where MRI shows normal cerebellar volume, but sometimes spinal cord atrophy. In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and ataxia with oculomotor apraxia type I and II. Mitochondrial metabolism is impaired in another group of inherited ataxias including the emergent group of defects in coenzyme Q10 synthesis. Few of these disorders are amenable to effective treatment, the most important of these being vitamin E-responsive ataxia. The autosomal dominant spinocerebellar ataxias are rare in childhood. Some of them, especially SCA7 and SCA2, may begin in childhood or even infancy, family history being positive in these cases. Additional clinical clues such as presence or absence of neuropathy or oculomotor apraxia still help in making a definitive diagnosis albeit there are still many unsolved cases. In pontocerebellar hypoplasia, a neurodegenerative disease with prenatal onset, the genetic basis of the different subtypes has recently been elucidated and involves genes with different functions.

Author : Anonim
Publisher : Academic Press
Page : 1633 pages
File Size : 45,6 Mb
Release : 2010-02-26
Category : Science
ISBN : 9780123741059

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Encyclopedia of Movement Disorders by Anonim Pdf

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