Mariani Foundation Paediatric Neurology Tome 12

Hereditary leukoencephalopathies and demyelinating neuropathies in children

G Uziel

,

F Taroni

,

Collectif

Note moyenne 
G Uziel et F Taroni - Mariani Foundation Paediatric Neurology Tome 12 : 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.... Lire la suite
60,00 € Neuf
Actuellement indisponible

Résumé

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 présent 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 différent therapeutic approaches now available. The aim is to provide a comprehensive review of the most important issues regarding genetic myelin disorders.

Sommaire

    • 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 an peripheral nervous systems in patients with childhood leukodystrophies
    • Proton M
    • spectroscopy as a diagnostic tool in leukoencephalopathies
    • Experience on two recently discovered forms of undetermined leukodystrophy
    • Itlaian experience of leukodystrophies
    • Defined and undetermined forms of leukoencephalophaty in children
    • 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 a therapeutic trial for diseases : the adrenoleukodystrophy model
    • Haematopoietic stem cell transplantation for leukodystrophies
    • Brain injection of rat neural progenitor cells overexpressing galactocerebrosidase does not affect the phenotype of mice with globoid cell leukodystrophy

Caractéristiques

  • Date de parution
    02/09/2004
  • Editeur
  • ISBN
    2-7420-0523-4
  • EAN
    9782742005239
  • Présentation
    Broché

Avis libraires et clients

Les clients ont également aimé

Derniers produits consultés