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Leukodystrophies /
A comprehensive guide to the genetics, pathogenesis and treatment of the leukodystrophies: serious, progressive disorders of demyelination, manifesting themselves in infancy or early childhood and progressing rapidly, leading to loss of sight, hearing, speech, ambulation, and early death.
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London :
Mac Keith Press,
2011.
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| Colección: | International review of child neurology.
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| Temas: | |
| Acceso en línea: | Texto completo |
Tabla de Contenidos:
- CONTENTS
- AUTHORS� APPOINTMENTS
- FOREWORD
- 1 LEUKODYSTROPHY AND MYELIN
- Introduction
- Definition of leukodystrophies
- 2 MYELINATION IN HEALTH AND DISEASE
- Introduction
- Oligodendrocytes have a highly polarized shape
- Molecular composition of myelin and oligodendrocyte membranes
- Molecular mechanisms of myelin membrane formation
- Reciprocal interactions between axons and oligodendrocytes
- Summary and conclusions
- 3 THE ROLE OF ASTROCYTES IN WHITE MATTER DISEASE
- Introduction
- Cellular lineage systems in the mammalian brain
- Astrocytes in development and adult lifeLeukodystrophies with distinct astrocyte pathology
- Possible mechanisms of white matter damage secondary to astrocyte dysfunction
- Summary and future perspectives
- 4 MICROGLIA AND LEUKODYSTROPHIES
- Introduction
- Macrophage populations in the central nervous system
- Defining microglial activation
- Microglia in development and repair
- Brain colonization, self-renewal, and post-lesional recruitment of microglia
- Microglia in the pathogenesis of leukodystrophies
- Adrenoleukodystrophy
- Does VLCFA accumulation cause microglial activation?How does microglial activation relate to demyelination in adrenoleukodystrophy?
- Metachromatic leukodystrophy
- Microglia in globoid cell leukodystrophy (Krabbe disease)
- The role of microglia in transplantation
- Concluding remarks
- 5 X-LINKED ADRENOLEUKODYSTROPHY
- Introduction
- Biochemical and molecular basis
- Clinical features
- Diagnosis
- Animal models
- Pathogenesis
- Therapy in adrenoleukodystrophy
- Expanded screening for asymptomatic individuals
- 6 KRABBE DISEASE (GLOBOID CELL LEUKODYSTROPHY)Introduction
- Clinical features
- Diagnostic evaluation
- Pathological findings
- Biochemical findings
- Molecular genetics
- Newborn screening
- Studies in animal models
- Therapy
- Conclusions
- 7 ALEXANDER DISEASE
- Introduction
- Clinical presentation
- MRI characteristics
- Pathology
- Diagnosis
- GFAP mutations
- Cases without GFAP mutations
- Recent cases
- Disease mechanisms
- Treatment
- Concluding remarks
- 8 METACHROMATIC LEUKODYSTROPHY
- Classification and definitionIncidence and prevalence
- Genetics
- Biochemical background
- Pathophysiology
- Clinical features
- Laboratory and genetic diagnosis
- Therapy
- 9 CANAVAN DISEASE
- Introduction
- Molecular basis
- Clinical features
- Variant forms of the disease
- Differential diagnosis
- Pathogenesis and pathophysiology
- Prognosis
- Epidemiology
- Gene therapy
- Prevention
- 10 PELIZAEUS�MERZBACHER DISEASE: GENETIC MODELS AND MECHANISMS
- Involvement of myelin proteolipid protein
- The PLP1 gene