Hereditary leukoencephalopathies and demyelinating neuropathies in children
著者
書誌事項
Hereditary leukoencephalopathies and demyelinating neuropathies in children
（Mariani Foundation Paediatric Neurology series, 12）
John Libbey Eurotext, c2004
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注記
Includes bibliographical references
内容説明・目次
内容説明
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.
目次
- Myelin genes and proteins
- New biochemical markers for leukodystrophy
- The developmental biology of the Schwann cell
- Pelizaeus-Merzbacher disease and "hypomyelinated" leukodystrophies
- Perspective in research for undefined leukoencephalopathies
- Neurophysiological study of the central and peripheral nervous systems in patients with childhood leukodystrophies
- Proton MR spectoscopy as a diagnostic tool in leukoencephalopathies
- Experience on two recently discovered forms of undeterminated leukodystrophy
- Italian experience of leukodystrophies
- The Italian experience on leukodystrophies: the experience in Milan
- MRI and MRS findings in children with leukodystrophies
- Molecular biology of peripheral myelin
- Diagnostic approach to hereditary neuropathies
- Dysmyelinating neuropathies of infancy: defined and undefined forms
- Design of therapeutic trial for diseases: the adrenoleukodystrophy model
- Haematopoiecti stem cell transplantation for leukodystrophies
- Brain injection of rat neural progenitor cells overexpressing galactocerebrosidase does not affect the phenotype of mice with globoid celle leukodystrophy.
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