Stefan M. Pulst – författare

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

Despite the critical importance of the cerebellum in brain function, the scientific community still lacks effective treatments for most cerebellar ataxias.  This book provides  a link between the pathogenesis and therapies of cerebellar ataxias while also providing a comprehensive assessment of the preclinical and clinical trials dedicated to cerebellar ataxias over the past 20 years of progress.  This is the first book fully dedicated to the trials and therapies of these disorders. It is a truly authoritative and comprehensive reference, and comes at a time of major advances in genetic tools and neuroimaging assessments.  The coverage begins by laying a foundation of the basic science of the cerebellum and ataxias, proceeds to discuss biomarkers and the tools of trials, offers guidelines on conducting trials,  and then explores the full range of therapeutics and their trials, including gene therapy and cell transplantation. The authors are top experts on cerebellar research and the contributing authors have all made seminal contributions in the field.

Despite the critical importance of the cerebellum in brain function, the scientific community still lacks effective treatments for most cerebellar ataxias.  This book provides  a link between the pathogenesis and therapies of cerebellar ataxias while also providing a comprehensive assessment of the preclinical and clinical trials dedicated to cerebellar ataxias over the past 20 years of progress.  This is the first book fully dedicated to the trials and therapies of these disorders. It is a truly authoritative and comprehensive reference, and comes at a time of major advances in genetic tools and neuroimaging assessments.  The coverage begins by laying a foundation of the basic science of the cerebellum and ataxias, proceeds to discuss biomarkers and the tools of trials, offers guidelines on conducting trials,  and then explores the full range of therapeutics and their trials, including gene therapy and cell transplantation. The authors are top experts on cerebellar research and the contributing authors have all made seminal contributions in the field.