| Description |
1 online resource (xii, 236 pages) : illustrations |
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text txt rdacontent |
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computer c rdamedia |
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online resource cr rdacarrier |
| Series |
International review of child neurology series |
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International review of child neurology.
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| Bibliography |
Includes bibliographical references and index. |
| Contents |
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 |
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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 |
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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 |
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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 |
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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 |
| Summary |
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. |
| Subject |
Metachromatic leukodystrophy.
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Hereditary Central Nervous System Demyelinating Diseases |
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MEDICAL -- Gynecology & Obstetrics.
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Metachromatic leukodystrophy
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| Added Author |
Raymond, Gerald V.
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| Other Form: |
Print version: Raymond, V. Gerald. Leukodystrophies. London : Mac Keith Press, ©2014 9781907655098 |
| ISBN |
9781907655418 (electronic bk.) |
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1907655417 (electronic bk.) |
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9781907655098 |
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1907655093 |
| Standard No. |
AU@ 000050965602 |
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AU@ 000053019174 |
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DEBBG BV043786778 |
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DEBBG BV044102416 |
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DEBSZ 472759701 |
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NZ1 14691976 |
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AU@ 000066753737 |
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