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Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development.
This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known.
The fully searchable online text is available on a companion Website.
Data sheet
GENERAL CONCEPTS OF MECHANISMS OF DISEASE:: Repeat Expansion Disorders:: General Concepts and Mechanisms of Disease / Mendelian, Nonmendelian, Multigenic Inheritance, and Complex Traits / Selected Genetically Engineered Models Relevant to Human Neurodegenerative Disease / Gene Mapping to Gene Targeting:: Application of Mouse Genetics to Human Disease / Human Genomics and Disease / Gene Therapy for Central Nervous System Disorders / Emerging Ethical Issues in Neurology, Psychiatry, and the Neurosciences / Genotype-Phenotype Correlations
  NEUROLOGIC DISEASES:: Down Syndrome / Triplet Repeat Diseases:: Genetics, Clinical Features, and Pathogenesis / Prion Diseases
  Mitochondrial Disorders:: The Mitochondrial Genome / Mitochondrial Disorders Due to Mutations in the Mitochondrial Genome / Mitochondrial Disorders Due to Mutations in the Nuclear Genome / Mitochondria in Neurodegenerative Disorders
  Peroxisomal Disorders:: Perioxisomal Disorders
  Lysosomal Disorders:: Gaucher Disease / The Niemann-Pick Diseases / The Gm2-Gangliosidoses / Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency:: Sulfatide Lipidosis / Krabbe Disease:: Globoid Cell Leukodystrophy / The Mucopolysaccharidoses and the Mucolipidoses / Disorders of Glycoprotein Degradation:: Sialidosis, Fucosidosis, Alpha-Mannosidosis, Beta- / Beta-Galactosidase Deficiency:: GM1 Gangliosidosis, Morquio B Disease, and Galactosialidosis / Farber Disease:: Acid Ceramidase Deficiency, Farber Lipogranulomatosis / Wolman Disease / Lysosomal Membrane Disorders:: LAMP-2 Deficiency / Fabry Disease:: Alpha Galactosidase A Deficiency / Schindler Disease:: Deficient Alpha-N-Acetylgalacosaminidase Activity
  Degenerative Disorders:: Alzheimers Disease / Frontotemporal Dementias / Genetics of Movement Disorders / The Inherited Ataxias / Canavan Disease / Hereditary Spastic Paraplegia
  Neuro-Oncology:: Neuro-Oncology:: The Neurofibromatoses
  Epilepsy:: The Genetic Epilepsies
  Demyelinating Disease:: Demyelinating Diseases
  Neuropathies and Neuronopathies:: Peripheral Neuropathies / The Molecular and Genetic Basis of Spinal Muscular Atrophies
  Congenital Myasthenic Syndromes:: Congenital Myasthenic Syndromes
  Myopathies:: Dystrophinopathies / Limb-Girdle Muscular Dystrophies / The Congenital Myopathies / The Distal Myopathies / Hereditary Inclusion-Body Myopathies / The Myotonic Dystrophies / Facioscapulohumeral Dystrophy / Ion Channel Disorders
  Dermatologic and Brain Disorders:: The Phakomatoses / Lipoprotein Disorders / Apolipoprotein E:: Structure and Function in Lipid Metabolism and Neurobiology / Cerebrotendinous Xanthomatosis
  Metabolic Disorders:: Disorders of Lipid Metabolism / Glycogen Storage Diseases / Disorders of Galactose Metabolism / Inborn Errors of Amino Acid Metabolism / Disorders of the Urea Cycle / Disorders of Glucose Transport / Maple Syrup Urine Disease:: Clinical and Biochemical Perspectives / Congenital Disorders of N-linked Glycosylation / Disorders of Glutathione Metabolism
  Purines:: Purines
  Porphyrias:: The Porphyrias
  Metal Metabolism:: Friedreich Ataxia / Disorders of Copper Metabolism:: Wilson Disease and Menkes Disease
  Vitamins:: Genetic and Dietary Influences on Life Span / Vitamins:: Cobalamin and Folate / Disorders of Biotin Metabolism:: Treatable Neurologic Syndromes
  PSYCHIATRIC DISEASE:: Psychiatric Diseases:: Challenges in Psychiatric Genetics / Depression / Bipolar Disorder / Schizophrenia / Obsessive-Compulsive Disorder and Tourettes Syndrome / Genetic Bases of Addictive Behaviors / Autism
  A NEUROLOGIC GENE MAP:: A Neurologic Gene Map
