The Hereditary Ataxias and Related Disorders
Author: A. E. Harding
Publisher:
Published: 1984
Total Pages: 284
ISBN-13:
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Handbook of Ataxia Disorders
Author: Thomas Klockgether
Publisher: CRC Press
Published: 2000-08-18
Total Pages: 716
ISBN-13: 9781420002065
DOWNLOAD EBOOKThis 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.
Cerebellar Disorders
Author: Mario Ubaldo Manto
Publisher: Cambridge University Press
Published: 2010-03-25
Total Pages: 313
ISBN-13: 1139487264
DOWNLOAD EBOOKDuring 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.
Genetics of Movement Disorders
Author: Stefan M. Pulst
Publisher: Elsevier
Published: 2002-10-25
Total Pages: 585
ISBN-13: 0080532411
DOWNLOAD EBOOKHereditary 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
The Genetics of African Populations in Health and Disease
Author: Muntaser E. Ibrahim
Publisher: Cambridge University Press
Published: 2019-12-19
Total Pages: 351
ISBN-13: 1107072026
DOWNLOAD EBOOKA pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
The Paroxysmal Disorders
Author: Bettina Schmitz
Publisher: Cambridge University Press
Published: 2010-09-09
Total Pages:
ISBN-13: 1139487566
DOWNLOAD EBOOKThe 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.
Neurogenetics
Author: Stefan-M. Pulst
Publisher: Contemporary Neurology
Published: 2000
Total Pages: 496
ISBN-13: 9780195129755
DOWNLOAD EBOOKNeurogenetics 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.
Handbook of the Cerebellum and Cerebellar Disorders
Author: Mario Manto
Publisher: Springer
Published: 2012-08-04
Total Pages: 0
ISBN-13: 9789400713321
DOWNLOAD EBOOKOur 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.
Neurodegeneration
Author: Anthony Schapira
Publisher: John Wiley & Sons
Published: 2017-02-13
Total Pages: 1078
ISBN-13: 1118661915
DOWNLOAD EBOOKThis book unites the diverse range of complex neurodegenerative diseases into a textbook designed for clinical practice, edited by globally leading authorities on the subject. Presents a clinically oriented guide to the diseases caused by neurodegeneration Templated chapters combine clinical and research information on neurodegenerative diseases beginning with the common elements before treating each disease individually Diseases are grouped by anatomical regions of degeneration and include common disorders such as Parkinson’s Disease, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis/Motor Neuron Disease, and Multiple Sclerosis as well as less common diseases Edited by globally leading authorities on the subject, and written by expert contributing authors
Rare Diseases Epidemiology: Update and Overview
Author: Manuel Posada de la Paz
Publisher: Springer
Published: 2017-12-06
Total Pages: 675
ISBN-13: 3319671448
DOWNLOAD EBOOKThe 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.
