Leukodystrophies
Leukodystrophies [E-Book]
- London : Mac Keith Press, 2011.
- 1 online resource (xii, 236 pages) : illustrations.
- International review of child neurology series .
- International review of child neurology. .
Includes bibliographical references and index.
""CONTENTS""; ""AUTHORS�a�? 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 life""""Leukodystrophies 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 definition""""Incidence 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�a�?MERZBACHER DISEASE: GENETIC MODELS AND MECHANISMS""; ""Involvement of myelin proteolipid protein""; ""The PLP1 gene""
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.
9781907655418 1907655417
Metachromatic leukodystrophy.
Includes bibliographical references and index.
""CONTENTS""; ""AUTHORS�a�? 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 life""""Leukodystrophies 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 definition""""Incidence 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�a�?MERZBACHER DISEASE: GENETIC MODELS AND MECHANISMS""; ""Involvement of myelin proteolipid protein""; ""The PLP1 gene""
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.
9781907655418 1907655417
Metachromatic leukodystrophy.