Hereditary leukoencephalopathies and demyelinating neuropathies in children

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.