Genetic Instabilities and Hereditary Neurological Diseases PDF Download
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Author: Robert D. Wells
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 886
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Book Description
This book represents the first authoritative review of all neurological diseases related to repeat expansions. Some of the diseases covered in this volume include fragile X syndrome, spino and bulbar muscular atrophy, myotonic dystrophy, spinocerebellar ataxia type 1 and type 7, Huntingtons disease, and Friedreichs ataxia. The book describes investigations into the underlying molecular mechanisms responsible for these syndromes. For students and researchers alike, Genetic Instabilities and Hereditary Neurological Diseases serves as a comprehensive treatise covering many aspects of all neurological diseases.
Author: Robert D. Wells
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 886
Get Book
Book Description
This book represents the first authoritative review of all neurological diseases related to repeat expansions. Some of the diseases covered in this volume include fragile X syndrome, spino and bulbar muscular atrophy, myotonic dystrophy, spinocerebellar ataxia type 1 and type 7, Huntingtons disease, and Friedreichs ataxia. The book describes investigations into the underlying molecular mechanisms responsible for these syndromes. For students and researchers alike, Genetic Instabilities and Hereditary Neurological Diseases serves as a comprehensive treatise covering many aspects of all neurological diseases.
Author: Robert D. Wells
Publisher: Elsevier
ISBN: 0080463770
Category : Science
Languages : en
Pages : 783
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Book Description
Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. Contributions by most of the principal research teams in the area, edited by world-renowned leaders Lays the background for future investigations on related diseases
Author: Sarah Bundey
Publisher: Elsevier
ISBN: 1483281019
Category : Health & Fitness
Languages : en
Pages : 355
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Book Description
Genetics and Neurology focuses on disorders that affect the nervous system, including atrophies, neuropathies, and tumors. The book first examines malformations of the central nervous system, phacomatoses and tumors, and cerebral degenerative disorders of childhood. Topics include malformations of the corpus callosum and neighboring structures; abnormalities of closure of neural tube; spongiform leucodystrophy; and tumors of the nervous system. The text then takes a look at extrapyramidal disorders and dyskinesias and muscle disorders. The publication elaborates on spinal muscular atrophies (SMAs), cerebellar and spinocerebellar ataxias, and hereditary neuropathies. Discussions focus on hereditary motor and sensory neuropathies of infancy and early childhood; peripheral neuropathies and lipid disorders; and congenital cerebellar ataxias. The book also discusses spastic paraplegias and multifactorial inheritance and neurological diseases. The text is a valuable reference for readers interested in genetics and neurology.
Author: Udo Rüb
Publisher: Springer
ISBN: 331919285X
Category : Medical
Languages : en
Pages : 146
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Book Description
This monograph describes the progress in neuropathological HD research made during the last century, the neuropathological hallmarks of HD and their pathogenic relevance. Starting with the initial descriptions of the progressive degeneration of the striatum as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating neuropathological data with results on the functional neuroanatomy of the human brain, subsequent chapters will highlight recent HD findings: the neuronal loss in the cerebral neo-and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and nuclei, the involvement of select brainstem nuclei, as well as the pathophysiological relevance of these pathologies for the clinical picture of HD. Finally, the potential pathophysiological role of neuronal huntingtin aggregations and the most important and enduring challenges of neuropathological HD research are discussed.
Author: Roger N. Rosenberg
Publisher: Butterworth-Heinemann
ISBN: 9780750696685
Category : Health & Fitness
Languages : en
Pages : 0
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Book Description
This volume, which is at the cutting edge of the interface between clinical and basic neuroscience, will be of value to clinicians caring for patients with hereditary neurological disorders and for investigators concerned with the scientific issues that these disorders propose. Five editors and 108 contributing authors are responsible for the 66 chapters arranged in 22 parts: general topics, chromosomes, carbohydrate disorders, amino acids, purines, lipoprotein disorders, porphyrins, metal metabolism, peroxisomes, lysosomal disorders, vitamins, prions, muscle disorders, mitochondrial disorders, degenerative disorders, the phakomatoses--disorders of skin and brain, neuro-oncology, membrane excitibility disorders, neuronopathies and neuropathies, epilepsy, schizophrenia, and gene therapy and human genome. Annotation copyright by Book News, Inc., Portland, OR.
Author: Michael Baraitser
Publisher:
ISBN:
Category : Language Arts & Disciplines
Languages : en
Pages : 564
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Book Description
Thoroughly revised for the paperback edition, this practical volume describes the different modes of transmission of neurological conditions and how they may be identified, and assesses the risk of recurrence. The text is illustrated with photographs of representative clinical conditions and features extensive reference to the existing literature of genetic disorderss, both rare and common. From reviews of the cloth: "Well worth owning....An encyclopedic reference."--Journal of Nervous and Mental Disease. "Coherent, well-organized, extremely well-documented...with 134 pages of references....A fine book to take to the clinic, as well as the library."--The New England Journal of Medicine
Author: Nicholas Wood
Publisher: Cambridge University Press
ISBN: 052154372X
Category : Medical
Languages : en
Pages : 251
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Book Description
A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Author: Stefan M. Pulst
Publisher: Elsevier
ISBN: 0080532411
Category : Medical
Languages : en
Pages : 585
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Book Description
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: 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: 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.
