Clearly structured, each chapter describes: * clinical features and laboratory investigations * pathology * pathogenetic considerations * therapy * case presentation * MRI and spectroscopy of a specific myelin disorder Completely updated and expanded by 20 chapters to include the latest information on: - inborn errors of metabolism and neurodegenerative disorders - the role of subcellular structures - enzyme biochemistry - the pathophysiological mechanisms of posthypoxic-ischemic cerebral damage - inflammatory and infectious disorders Plus: Greater coverage of the genetic and pathophysiological mechanisms underlying white matter disorders. Finally: 250 high-quality illustrations depict rare disorders which previously were only described.
Inhalt
1 Myelin and White Matter.- 2 Classification of Myelin Disorders.- 3 Selective Vulnerability.- 4 Myelination and Retarded Myelination.- 5 Lysosomes and Lysosomal Disorders.- 6 Metachromatic Leukodystrophy.- 7 Multiple Sulfatase Deficiency.- 8 Globoid Cell Leukodystrophy: Krabbe's Disease.- 9 GM1 Gangliosidosis.- 10 GM2 Gangliosidosis.- 11 Fabry's Disease.- 12 Fucosidosis.- 13 Mucopolysaccharidoses.- 14 Peroxisomes and Peroxisomal Disorders.- 15 Zellweger Cerebrohepatorenal Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease.- 16 Rhizomelic Chondrodysplasia Punctata.- 17 Zellweger-like Syndrome.- 18 Pseudo-neonatal Adrenoleukodystrophy, Trifunctional Protein Deficiency, and Pseudo-Zellweger Syndrome.- 19 X-linked Adrenoleukodystrophy.- 20 Mitochondria and Mitochondrial Disorders.- 21 Defects of Mitochondrial DNA.- 22 Leigh Syndrome.- 23 Pyruvate Carboxylase Deficiency.- 24 Cerebrotendinous Xanthomatosis.- 25 Refsum Disease.- 26 Nucleus, DNA, and DNA Repair.- 27 Cockayne's Disease.- 28 Pelizaeus-Merzbacher Disease.- 29 18q? Syndrome.- 30 Phenylketonuria.- 31 Glutaric Aciduria Type 1.- 32 Propionic Acidemia.- 33 Hyperprolinemia.- 34 Nonketotic Hyperglycinemia.- 35 Maple Syrup Urine Disease.- 36 Canavan's Disease.- 37 L-2-Hydroxyglutaric Aciduria.- 38 Hyperhomocysteinemias.- 39 Urea Cycle Defects.- 40 Galactosemia.- 41 Sjögren-Larsson-Syndrome.- 42 Lowe Syndrome.- 43 Wilson Disease.- 44 Neuronal Ceroid Lipofuscinoses.- 45 Alexander's Disease.- 46 Myotonic Dystrophy.- 47 Congenital Muscular Dystrophy.- 48 Infantile-Onset Leukoencephalopathy with Swelling and a Discrepantly Mild Clinical Course.- 49 Childhood Ataxia with Diffuse Cerebral Hypomyelination.- 50 Leukoencephalopathy, Cerebral Calcifications, and Chronic Cerebrospinal Fluid Lymphocytosis (Aicardi-Goutières Syndrome).- 51 Inflammatory and Infectious Disorders.- 52 Multiple Sclerosis.- 53 Conditions Mimicking Multiple Sclerosis on MRI.- 54 Acute Disseminated Encephalomyelitis and Acute Hemorrhagic Encephalomyelitis.- 55 Acquired Immunodeficiency Syndrome.- 56 Progressive Multifocal Leukoencephalitis.- 57 Subacute Sclerosing Panencephalitis.- 58 Progressive Rubella Panencephalitis.- 59 Toxic Encephalopathy.- 60 Central Pontine and Extrapontine Myelinolysis.- 61 Marchiafava-Bignami Syndrome.- 62 Posthypoxic-Ischemic Damage.- 63 Posthypoxic-Ischemic Leukoencephalopathy of Neonates.- 64 Delayed Posthypoxic Leukoencephalopathy of Maturity.- 65 Sub cortical Arteriosclerotic Encephalopathy.- 66 Vasculitis.- 67 Leukoencephalopathy After Chemotherapy and/or Radiotherapy.- 68 Cerebral Edema and Fluid Compartments in the CNS.- 69 Wallerian Degeneration and Myelin Loss Secondary to Neuronal and Axonal Degeneration.- 70 Pattern Recognition in White Matter Disorders.- 71 Magnetic Resonance Spectroscopy, Basic Principles, and Application in Myelin Disorders.- Acknowledgements.- References.