04554nam 2200577 a 450 991077914990332120230725060520.01-907655-41-7(CKB)2550000000103452(EBL)3329169(SSID)ssj0000941825(PQKBManifestationID)12373477(PQKBTitleCode)TC0000941825(PQKBWorkID)10964212(PQKB)11570130(MiAaPQ)EBC3329169(Au-PeEL)EBL3329169(CaPaEBR)ebr10565415(OCoLC)929120206(EXLCZ)99255000000010345220120613d2011 uy 0engur|n|---|||||txtccrLeukodystrophies[electronic resource] /edited by Gerald V. Raymond ... [et al.]London Mac Keith Press20111 online resource (249 p.)International review of child neurology seriesDescription based upon print version of record.1-907655-09-3 Includes bibliographical references and index.""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 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�MERZBACHER DISEASE: GENETIC MODELS AND MECHANISMS""; ""Involvement of myelin proteolipid protein""; ""The PLP1 gene""""Genetics of PMD/SPG-2""International review of child neurology.Leukodystrophy, MetachromaticLeukodystrophy, Metachromatic.618.928Raymond Gerald V1485339MiAaPQMiAaPQMiAaPQBOOK9910779149903321Leukodystrophies3704424UNINA