Spinocerebellar Ataxia

Author : Stefan M. Pulst
Publisher : Elsevier
Page : 585 pages
File Size : 50,7 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 : Stefan-M. Pulst
Publisher : Contemporary Neurology
Page : 496 pages
File Size : 51,7 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 : Clévio Nóbrega,Luís Pereira de Almeida
Publisher : Springer
Page : 469 pages
File Size : 42,8 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.

Author : A. E. Harding
Publisher : Lippincott Williams & Wilkins
Page : 248 pages
File Size : 41,8 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 : Mario Ubaldo Manto
Publisher : Cambridge University Press
Page : 313 pages
File Size : 51,6 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 : Bernard Puech,Jean-Jacques De Laey,Graham E. Holder
Publisher : Springer
Page : 488 pages
File Size : 55,7 Mb
Release : 2014-07-19
Category : Medical
ISBN : 9783540694663

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Inherited Chorioretinal Dystrophies by Bernard Puech,Jean-Jacques De Laey,Graham E. Holder Pdf

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.

Author : Thomas Klockgether
Publisher : CRC Press
Page : 716 pages
File Size : 52,7 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.

Author : Anonim
Publisher : Academic Press
Page : 709 pages
File Size : 49,8 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

Author : Patricia Bozzetto Ambrosi
Publisher : BoD – Books on Demand
Page : 132 pages
File Size : 52,7 Mb
Release : 2022-06-28
Category : Medical
ISBN : 9781838808365

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Spinocerebellar Ataxia by Patricia Bozzetto Ambrosi Pdf

This book is about spinocerebellar ataxia (SCA), which is among the most challenging pathologies in the neurological landscape. It covers basic concepts, functional classification, and new approaches to medical and non-medical treatment including rehabilitation/palliative care approaches. The volume also describes a wide spectrum of generalities and particularities about various forms of clinical and genetic presentations of ACS that have life-threatening characteristics and long-standing presentation with tremendous variability in presentation and clinical severity. In addition, the book presents important aspects of cerebellar anatomy, nutrition impact, genetic subtypes, and functional classification of medical and non-medical interventions related to stem cells, rehabilitation, and palliative care.

Author : José Gazulla
Publisher : BoD – Books on Demand
Page : 210 pages
File Size : 46,7 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.

Author : Anonim
Publisher : Academic Press
Page : 1633 pages
File Size : 44,6 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

Author : Mario Manto,Donna L. Gruol,Jeremy Schmahmann,Noriyuki Koibuchi,Ferdinando Rossi
Publisher : Springer
Page : 0 pages
File Size : 46,8 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 : Joseph Jankovic,Eduardo Tolosa
Publisher : Lippincott Williams & Wilkins
Page : 748 pages
File Size : 47,7 Mb
Release : 2007
Category : Medical
ISBN : 0781778816

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Parkinson's Disease and Movement Disorders by Joseph Jankovic,Eduardo Tolosa Pdf

Written by an international group of renowned experts, the Fifth Edition of this premier reference provides comprehensive, current information on the genetics, pathophysiology, diagnosis, medical and surgical treatment, and behavioral and psychologic concomitants of all common and uncommon movement disorders. Coverage includes Parkinson's disease, other neurodegenerative diseases, tremors, dystonia, Tourette's syndrome, Huntington's disease, and ataxias. This edition features extensive updates on genetics, imaging, and therapeutics of Parkinson's disease, other parkinsonian disorders, and all hyperkinetic movement disorders. A bound-in CD-ROM, Video Atlas of Movement Disorders, demonstrates the movement and posture abnormalities and other disturbances associated with Parkinson's disease and other neurologic disorders.

Author : Louis R. Caplan,Jan Gijn
Publisher : Cambridge University Press
Page : 633 pages
File Size : 52,8 Mb
Release : 2012-07-12
Category : Medical
ISBN : 9781107018860

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Stroke Syndromes, 3ed by Louis R. Caplan,Jan Gijn Pdf

A comprehensive survey of dysfunction due to stroke, this revised edition remains the definitive guide to stroke patterns and syndromes.

Author : Tuula Lönnqvist
Publisher : Unknown
Page : 73 pages
File Size : 48,9 Mb
Release : 1995
Category : Electronic
ISBN : 9529068689

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Infantile Onset Spinocerebellar Ataxia (IOSCA) by Tuula Lönnqvist Pdf