Genetically determined myelinopathies are a large group of neurological diseases that present a challenge to the clinician, the biologist and the geneticist. During the last decade, the development of tools for exploring the nervous system and the human genome has had a tremendous impact on the understanding of these diseases. Thus, the advances in neuroimaging techniques and molecular genetic research are continuously influencing disease classification, diagnostic protocols, and management of patients. These topics are the focus of the present publication. The aim is to provide a comprehensive review of the most important issues regarding genetic myelin disorders.
Magnetic resonance imaging (MRI) is now considered the imaging modality of choice for the majority of disorders affecting the central nervous system. This is particularly true for gray and white matter disorders, thanks to the superb soft tis sue contrast in MRI which allows gray matter, unmyelinated, and myelinated white matter to be distinguished and their respective disorders identified. The pre sent book is devoted to the disorders of myelin and myelination. A growing amount of detailed in vivo information about myelin, myelination, and myelin dis orders has been derived both from MRI and from MR spectroscopy (MRS). This prompted us to review the clinical, laboratory, biochemical, and pathological data on this subject in order to integrate all available information and to provide im proved insights into normal and disordered myelin and myelination. We will show how the synthesis of all available information contributes to the interpretation of MR images. After a brief historical review about the increasing knowledge on myelin and my elin disorders, we propose a new classification of myelin disorders based on the subcellular localization of the enzymatic defects as far as the inborn errors of me tabolism are concerned. This classification serves as a guide throughout the book. All items of the classification will be discussed and, whenever relevant and possi ble, be illustrated by MR images.
This book describes how to perform nerve conduction studies and electromyography in children, and explains the relevant physiology and anatomy crucial to making a diagnosis. Relevant case presentations are included to aid learning, and the authors also focus on the practical applications of the test results, including discussions of major neuromuscular diseases amenable to diagnosis via electromyography. Pediatric Electromyography: Concepts and Clinical Applications is aimed at residents, technologists and staff pediatric neurologists, as a practical guide and exam study guide.
This open access book offers an essential overview of brain, head and neck, and spine imaging. Over the last few years, there have been considerable advances in this area, driven by both clinical and technological developments. Written by leading international experts and teachers, the chapters are disease-oriented and cover all relevant imaging modalities, with a focus on magnetic resonance imaging and computed tomography. The book also includes a synopsis of pediatric imaging. IDKD books are rewritten (not merely updated) every four years, which means they offer a comprehensive review of the state-of-the-art in imaging. The book is clearly structured and features learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers navigate the text. It will particularly appeal to general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic expertise, as well as clinicians from other specialties who are interested in imaging for their patient care.
This volume provides updated information on epilepsy genes, on the clinical picture of genetic epilepsies discovered so far, and on conceptual advances in the complicated area of genotype-phenotype correlations. Recent studies on monogenic epilepsies present new insights into mechanisms whereby a mutation of a single gene, coding for an ion channel, can result in a complex epileptic phenotype. The analysis of genetically-determined epileptogenic dysplasia is advancing our understanding of the role of genes in controlling normal and pathological brain development. The pathogenic mechanisms by which gene mutations determine progressive myoclonus epilepsies offer critical opportunities to understand the role of genetic factors in neurodegenerative phenome-na associated with an even broader range of progressive epilepsy types. The specialists who have contributed to this book are outstanding international experts in their respective fields, ensuring first and foremost that the reviews are of relevance to clinicians dealing with epilepsy in their daily practice, as well as providing the highest quality scientific information for biomedical research.
Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
This book provides a comprehensive review and update of the newest diagnostic and therapeutic tools in paediatric neurology. Special attention is paid to neuroradiologic and neurophysiologic techniques and to their clinical application, with guidelines and suggestions on how an integrated approach can be used to reach diagnosis. Some of the chapters focus on the new-born infant and the first years of life, highlighting the most appropriate MRI, clinical, and EEG techniques to investigate the developing brain. State-of-the-art techniques used in older children are also presented that afford a better understanding of the correlation between function and brain structure in young patients with brain lesions. New genetic discoveries are particularly emphasised, as is the possibility of performing accurate phenotype -- genotype correla-tion by combining the latest methods, such as muscle MRI and genetic information, in order to identify MRI patterns associated with specific genetic disorders. In all chapters an effort is made to combine technical data with clinical applications in order to show, when possible, how these novel procedures can also be used in rehabilitation. This book will be of interest to paediatricians, paediatric neuro-logists, neonatologists, and to all those who are involved in the diagnosis and care of children with neurologic disabilities.
Book & DVD. This book covers a wide range of disease conditions that are characterised by involuntary movements possibly associated with signs of more diffuse dysfunction of the nervous system. These include both genetically determined and acquired conditions, running a clinical course that may be progressive, static, or paroxysmal. Recent years have witnessed growing interest in the movement disorders of children. There has been an increase in our understanding of the pathogenesis of these disorders, and new perspectives for their diagnosis and treatment have emerged. This book aims to provide neurologists, paediatricians, and specialists in developmental medicine with a comprehensive update on these issues. The more recent advances on dystonias, neurotransmitter disorders, chorea and PANDAS, tics and Tourette syndrome, paroxysmal dyskinesias, psychogenetic movement disorders and other specific syndromes and diseases -- such as opsoclonus-myoclonus, rapid onset dystonia-parkinsonism, pantothenate kinase-associated neurodegeneration and Rett syndromes -- are illustrated, and current topics on genetics, biochemistry, brain imaging, physiological investigations, quantitative assessment, and the pharmacological and surgical treatment of childhood movement disorders are covered. The book also includes rich video documentation which we trust may be a helpful and crucial contribution for all professionals involved in the field of movement disorders, where the correct semiologic definition of the different conditions is one of the most important but problematic steps in the diagnostic work-up.
