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Author: A. E. Harding
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 284
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Book Description
Author: A. E. Harding
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 284
Get Book
Book Description
Author: A. E. Harding
Publisher: Lippincott Williams & Wilkins
ISBN:
Category : Medical
Languages : en
Pages : 248
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Book Description
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: 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: Shamim Ahmad
Publisher: Springer Science & Business Media
ISBN: 1441964487
Category : Medical
Languages : en
Pages : 282
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Book Description
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: Thomas Klockgether
Publisher: CRC Press
ISBN: 9781420002065
Category : Medical
Languages : en
Pages : 716
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Book Description
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: Mario Manto
Publisher: Springer
ISBN: 9789400713321
Category : Medical
Languages : en
Pages : 0
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Book Description
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
Publisher: Cambridge University Press
ISBN: 1139495755
Category : Medical
Languages : en
Pages : 351
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Book Description
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: Lene Werdelin
Publisher:
ISBN:
Category : Ataxia
Languages : en
Pages : 138
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Book Description
Author: Muntaser E. Ibrahim
Publisher: Cambridge University Press
ISBN: 1107072026
Category : History
Languages : en
Pages : 351
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Book Description
A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
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.
