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This volume presents recent data on the latest achievements in new and emerging technologies for biomarkers and for innovations in their assessment. The chapters cover topics such as activation of microglia and macrophages in neurodegenerative diseases; oxidative stress and cellular dysfunction in neurodegenerative diseases; TSPO PET imaging as a biomarker of neuroinflammation in neurodegenerative disorders; and imaging biomarkers in Huntington's disease and amyotrophic lateral sclerosis. In the Neuromethods series style, chapters include the kind of detail and key advice from the specialists needed to get successful results in your laboratory. Cutting-edge and comprehensive, Neurodegenerative Diseases Biomarkers: Towards Translating Research to Clinical Practice is a valuable resource for both experimental and clinical experts in the field of neurodegenerative diseases who are looking to expand their knowledge of novel biomarkers in different types of neurodegenerative diseases.
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.
"The Differential Diagnosis of Chorea provides a comprehensive account of the various neurological conditions, both genetic and acquired, that lead to this involuntary movement disorder.
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.
Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.
Provides a timely overview of critical advances in molecular and cellular neurobiology, covers key methodologies driving progress, and highlights key future directions for research on neuronal injury and neurodegeneration relevant to neuronal brain pathologies. The editors bring together contributions from internationally recognized workers in the field to provide an up to date account of how and why molecular and cellular neurobiology is such an important area for clinical neuroscience. Understanding the molecular aspects of a number of neurodegenerative conditions such as Parkinson's or Alzheimer's disease for the purpose of improving patient management remains a major challenge of neurobiology be it from the basic or clinical perspective. A strategic evaluation of research contributions and the power of modern methods will help advance knowledge over the next years.
This book represents the final work of the late Professor C. David Marsden, who was the most influential figure in the field of movement disorders, in terms of his contributions to both research and clinical practice, in the modern era. It was conceived and written by David Marsden and his colleague at the Institute of Neurology, Prof. Ivan Donaldson. It was their intention that this would be the most comprehensive book on movement disorders and also that it would serve as the 'clinical Bible' for the management of these conditions. It provides a masterly survey of the entire topic, which has been made possible only by vast laboratory and bedside experience. Marsden's Book of Movement Disorders covers the full breadth of movement disorders, from the underlying anatomy and understanding of basal ganglia function to the diagnosis and management of specific movement disorders, including the more common conditions such as Parkinson's Disease through to rare, and very rare conditions such as Niemann-Pick disease. Chapters follow a structured format with historical overviews, definitions, clinical features, differential diagnosis, investigations and treatment covered in a structured way. It is extensively illustrated with many original photographs and diagrams of historical significance. Among these illustrations are still images of some original film clips of some of Dr. Marsden's patients published here for the first time. Comprehensively referenced and updated by experts from the Institute of Neurology at Queen Square, this book is a valuable reference for, not just movement disorder specialists and researchers, but also for clinicians who care for patients with movement disorders.
Huntington’s disease (HD) is a fatal, inherited, neurodegenerative disorder, characterized by chorea, motor instabilities, psychiatric manifestations and cognitive decline. Early genetic testing provides an opportunity for clinical interventions aimed at delaying onset and/or slowing progression of disease; however, current treatments for HD are limited, with only two FDA-approved drugs available to manage chorea. Encouragingly, however, several disease-modifying treatment approaches are in the therapeutic pipeline, with more than 200 clinical studies, and many more preclinical studies, in the works. Robust and reliable biomarkers are needed to predict disease onset, monitor disease progression and assess treatment responses. More specifically, biomarkers to stratify patients for clinical trials and biomarkers to track drug efficacy will certainly lead to improved clinical trial design and success. This book represents the first book focused solely on biomarkers for HD and represents a distinct resource that will be informative, not only for clinicians and those involved in clinical trial design, but also for a wide range of neurodegenerative disease researchers. This edited volume is written by top leaders in the field, and takes a cross-disciplinary approach to cover a broad spectrum of biomarker types, in order to provide the latest advances in the development of biochemical, molecular, imaging and digital biomarkers that have been investigated for HD. With the ultimate goal of treating patients, the development of disease-associated biomarkers has never been more important.
Neurodegenerative diseases represent a very large group of heterogeneous disorders affecting specific subtypes of neurons in the brain. This book contributes insight both to the awareness of the brain and its neurodegenerative states. The chapters present current knowledge regarding genetics, molecular mechanisms, and new therapeutic strategies against neurodegenerative disorders. The book is intended to serve as a source to aid clinicians and researchers in the field, and also life science readers to increase their understanding and awareness of the clinical correlations, genetic aspects, neuropathological findings, and current therapeutic interventions in neurodegenerative diseases. I believe that this book will enlighten the curiosity for neurodegeneration and also encourage researchers to work on potentially effective molecular therapies for still mysterious neurodegenerative disorders.
This book serves as a reference and comprehensive guide for PET/MR neuroimaging. The field of PET/MR is rapidly evolving, however, there is no standard resource summarizing the vast information and its potential applications. This book will guide neurological molecular imaging applications in both clinical practice and the research setting. Experts from multiple disciplines, including radiologists, researchers, and physicists, have collaborated to bring their knowledge and expertise together. Sections begin by covering general considerations, including public health and economic implications, the physics of PET/MR systems, an overview of hot lab and cyclotron, and radiotracers used in neurologic PET/MRI. There is then coverage of each major disease/systemic category, including dementia and neurodegenerative disease, epilepsy localization, brain tumors, inflammatory and infectious CNS disorders, head and neck imaging, as well as vascular hybrid imaging. Together, we have created a thorough, concise and up-to-date textbook in a unique, user-friendly format. This is an ideal guide for neuroradiologists, nuclear medicine specialists, medical physicists, clinical trainees and researchers.