Leukodystrophies [[electronic resource] /] / edited by Gerald V. Raymond ... [et al.]

• Record Nr.: UNINA9910779149903321
• Pubbl/distr/stampa: London, : Mac Keith Press, 2011
• ISBN: 1-907655-41-7
• Descrizione fisica: 1 online resource (249 p.)
• Collana: International review of child neurology series
• Altri autori (Persone): RaymondGerald V
• Disciplina: 618.928
• Soggetti: Leukodystrophy, Metachromatic
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references and index.
• Nota di contenuto: ""CONTENTS""; ""AUTHORSâ€? 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 PELIZAEUSâ€?MERZBACHER DISEASE: GENETIC MODELS AND MECHANISMS""; ""Involvement of myelin proteolipid protein""; ""The PLP1 gene""; ""Genetics of PMD/SPG-2""