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VOLUME 12
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 book is developed over different sections. The basic aspects of myelin biology and their relevance to human diseases constitute the first section of the book. A second and third section deal with the clinical aspects of both defined and undefined leukoencephalopathies, and with the impact of neurophysiological and neuroimaging techniques on the diagnosis and nosology of these disorders. Hereditary disorders of peripheral myelin are reviewed in the fourth section, while the closing section focuses on crucial issues of the different therapeutic approaches now available.
The aim is to provide a comprehensive review of the most important issues regarding genetic myelin disorders.
CONTENTS:
1 Myelin genes and proteins
2 New biochemical markers for leukodystrophy
3 The developmental biology of the Schwann cell
4 Pelizaeus-Merzbacher disease and “hypomyelinated” leukodystrophies
5 Perspective in research for undefined leukoencephalopathies
6 Neurophysiological study of the central and peripheral nervous systems in patients with childhood leukodystrophies
7 Proton MR spectoscopy as a diagnostic tool in leukoencephalopathies
8 Experience on two recently discovered forms of undeterminated leukodystrophy
9 Italian experience of leukodystrophies
10 The Italian experience on leukodystrophies: the experience in Milan
11 MRI and MRS findings in children with leukodystrophies
12 Molecular biology of peripheral myelin
13 Diagnostic approach to hereditary neuropathies
14 Dysmyelinating neuropathies of infancy: defined and undefined forms
15 Design of therapeutic trial for diseases: the adrenoleukodystrophy model
16 Haematopoiecti stem cell transplantation for leukodystrophies
17 Brain injection of rat neural progenitor cells overexpressing galactocerebrosidase does not affect the phenotype of mice with globoid celle leukodystrophy