Download or read book Inherited Ataxias written by A. E. Harding and published by Lippincott Williams & Wilkins. This book was released on 1993 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Cerebellar Disorders written by Mario Ubaldo Manto and published by Cambridge University Press. This book was released on 2010-03-25 with total page 313 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Neurogenetics written by Stefan-M. Pulst and published by Contemporary Neurology. This book was released on 2000 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Handbook of Ataxia Disorders written by Thomas Klockgether and published by CRC Press. This book was released on 2000-08-18 with total page 716 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetics of Movement Disorders written by Stefan M. Pulst and published by Elsevier. This book was released on 2002-10-25 with total page 585 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Inherited Chorioretinal Dystrophies written by Bernard Puech and published by Springer. This book was released on 2014-07-19 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt: This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.
Download or read book The Molecular and Genetic Basis of Neurologic and Psychiatric Disease written by Roger N. Rosenberg and published by Lippincott Williams & Wilkins. This book was released on 2008 with total page 930 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known. The fully searchable online text will be available on a companion Website. (www.rosenbergneuroandpsychdisease.com)
Download or read book Diseases of DNA Repair written by Shamim Ahmad and published by Springer Science & Business Media. This book was released on 2011-01-11 with total page 282 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Paroxysmal Disorders written by Bettina Schmitz and published by Cambridge University Press. This book was released on 2010-09-09 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genomics and Health in the Developing World written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2012-05-11 with total page 1536 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.
Download or read book The Hereditary Ataxias and Related Disorders written by A. E. Harding and published by . This book was released on 1984 with total page 284 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Handbook of the Cerebellum and Cerebellar Disorders written by Mario Manto and published by Springer. This book was released on 2012-08-04 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Polyglutamine Disorders written by Clévio Nóbrega and published by Springer. This book was released on 2018-02-09 with total page 469 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Uncommon Causes of Movement Disorders written by Néstor Gálvez-Jiménez and published by Cambridge University Press. This book was released on 2011-05-12 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Emery and Rimoin s Essential Medical Genetics written by David L. Rimoin and published by Elsevier. This book was released on 2013-05-15 with total page 647 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com. Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com
Download or read book Encyclopedia of Movement Disorders written by and published by Academic Press. This book was released on 2010-02-26 with total page 1633 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Hyperkinetic Movement Disorders written by Alberto Albanese and published by John Wiley & Sons. This book was released on 2012-03-07 with total page 413 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hyperkinetic movement disorders comprise a range of diseases characterized by unwanted and uncontrollable, or poorly controllable, involuntary movements. The phenomenology of these disorders is quite variable encompassing chorea, tremor, dystonia, myoclonus, tics, other dyskinesias, jerks and shakes. Discerning the underlying condition can be very difficult given the range and variability of symptoms. But recognizing the phenomenology and understanding the pathophysiology are essential to ensure appropriate treatment. Hyperkinetic Movement Disorders provides a clinical pathway for effective diagnosis and management of these disorders. The stellar international cast of authors distils the evidence so you can apply it into your practice. The judicious use of diagnostic criteria algorithms rating scales management guidelines Provides a robust framework for clear patient management. Throughout the text, QR codes* provide smartphone access to case-study videos of hyperkinetic symptoms. Purchase includes an enhanced Wiley Desktop Edition.* This is an interactive digital version featuring: all text and images in fully searchable form integrated videos of presentations View a sample video: www.wiley.com/go/albanese highlighting and note taking facilities book marking linking to additional references Hyperkinetic Movement Disorders provides you with the essential visual and practical tools you need to effectively diagnose and treat your patients. *Full instructions for using QR codes and for downloading your digital Wiley DeskTop Edition are inside the book.
