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Progress in developmental neurobiology and advances in (neuro) genetics have been spectacular. The high resolution of modern imaging techniques applicable to developmental disorders of the human brain and spinal cord have created a novel insight into the developmental history of the central nervous system (CNS). This book provides a comprehensive overview of the development of the human CNS in the context of its many developmental disorders. It provides a unique combination of data from human embryology, animal research and developmental neuropathology, and there are more than 400 figures in over a hundred separate illustrations.
Connections define the functions of neurons: information flows along connections, as well as growth factors and viruses, and even neuronal death may progress through connections. Knowledge of how the various parts of the brain are interconnected to form functional systems is a prerequisite for the proper understanding of data from all fields in the neurosciences. Clinical Neuroanatomy: Brain Circuitry and Its Disorders bridges the gap between neuroanatomy and clinical neurology. It emphasizes human and primate data in the context of disorders of brain circuitry which are so common in neurological practice. In addition, numerous clinical cases demonstrate how normal brain circuitry may be interrupted and to what effect. Following an introduction into the organization and vascularisation of the human brain and the techniques to study brain circuitry, the main neurofunctional systems are discussed, including the somatosensory, auditory, visual, motor, autonomic and limbic systems, the cerebral cortex and complex cerebral functions.
Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.
This sixth edition provides an overview of fetal and neonatal pathology through a system-based approach. This book contains new chapters on immunology, with a continued focus on molecular aspects of pathology in the perinatal setting. The general principles of perinatal pathology and their clinical situations are also discussed, along with specific pathological entities and their organ systems. Keeling’s Fetal and Neonatal Pathology, sixth edition aims to help the reader treat common problems through anatomical pathology findings and is relevant to practicing and trainee pathologists, obstetricians, maternal and fetal medicine specialists, neonatologists, and pediatricians.
Peripheral Nerve Disorders: Pathology and Genetics is a definitive, clinically-oriented guide to the pathology of peripheral nerve disorders. These commonly seen neurological challenges have many causes and accurate diagnosis is often necessary via pathological analysis. New techniques exploiting molecular biological knowledge have opened up new vistas to understanding the pathogenesis of these disorders, and hence their effective management. This new title takes a disease-oriented approach to understanding the pathology of these conditions. It combines classical and contemporary techniques to enable practitioners in neurology and neuropathology to better understanding of the disease processes underlying patients’ presentations and to formulate appropriate management plans. Peripheral Nerve Disorders: Pathology and Genetics is a valuable resource for neurologists, neuropathologists, pathologists, neurobiologists and geneticists.
The Research Topic entitled "Emerging Challenges in the Diagnosis and Treatment of Autoimmune Encephalitis" covers recent developments in an rapidly expanding field. We believe that the present Frontiers Research Topic eBook will provide the interested readers with updated knowledge on autoimmune encephalitis including real life clinical experience in diagnostic challenges, differential diagnosis and treatment of patients with autoimmune encephalitis.
Written by more than 60 international experts in the field, Muscle Disease embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years. In order to accommodate the new complex principles involved, the book is organized around the motor unit and the inherited disorders, in particular, are centered on the ultrastructure and organelles within the muscle fiber. In this way, the wide spectrum of muscle diseases, ranging from neurogenic and inflammatory disorders to those involving defects in a single gene, can be expressed in a logical sequence. For example, disorders that principally involve specific organelles or parti...
Based on the most up-to-date research, Child Neuropsychology is a thorough and accessible guide to the key concepts and basic processes central to neuropsychological assessment and child evaluation. Essays by leading experts in the field cover basic neuropsychological functions and related disorders in the context of brain development. Divided into three parts, the text begins with clear definitions of the concepts and methodology of brain development in child neuropsychology. Part two examines normal and abnormal functional development. The final part considers professional practice and provides valuable insights into the special problems of neuropsychological assessment of infants and children in clinical and educational settings.
In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.