| Contributors |
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vii | |
| Introduction |
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xix | |
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SECTION I: GENERAL CONCEPTS AND MECHANISMS OF DISEASE |
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1 | (110) |
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Repeat Expansion Disorders: General Concepts and Mechanisms of Disease |
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3 | (11) |
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Mendelian, Nonmendelian, and Multigenic Inheritance and Complex Traits |
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14 | (21) |
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Selected Genetically Engineered Models Relevant to Human Neurodegenerative Disease |
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35 | (28) |
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Gene Mapping to Gene Targeting: Application of Mouse Genetics to Human Disease |
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63 | (12) |
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Genomics and the Human Genome Project |
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75 | (12) |
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Gene Therapy for Central Nervous System Disorders |
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87 | (12) |
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Emerging Ethical Issues in Neurology, Psychiatry, and the Neurosciences |
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99 | (5) |
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Genotype-Phenotype Correlations |
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104 | (7) |
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SECTION II: NEUROLOGIC DISEASES |
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111 | (636) |
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113 | (10) |
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Triplet Repeats: Genetics, Clinical Features, and Pathogenesis |
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123 | (18) |
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141 | (19) |
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Part A: Mitochondrial Disorders |
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160 | (9) |
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Mitochondrial Disorders Due to Mutations in the Mitochondrial Genome |
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169 | (8) |
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Mitochondrial Disorders Due to Mutations in the Nuclear Genome |
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177 | (9) |
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Mitochondria in Neurodegenerative Disorders |
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186 | (9) |
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Part B: Peroxisomal Disorders |
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195 | (14) |
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Part C: Lysosomal Disorders |
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209 | (6) |
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The Niemann-Pick Diseases |
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215 | (6) |
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221 | (9) |
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Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency: Sulfatide Lipidosis |
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230 | (9) |
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Krabbe Disease: Globoid Cell Leukodystrophy |
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239 | (6) |
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The Mucopolysaccharidoses and the Mucolipidoses |
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245 | (16) |
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Kimberlee Michals Matalon |
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Disorders of Glycoprotein Degradation: Sialidosis, Fucosidosis, α-Mannosidosis, β-Mannosidosis, and Aspartylglycosaminuria |
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261 | (12) |
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β-Galactosidase Deficiency: GM1 Gangliosidosis, Morquio B Disease, and Galactosialidosis |
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273 | (9) |
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Farber Disease: Acid Ceramidase Deficiency and Farber Lipogranulomatosis |
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282 | (6) |
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288 | (5) |
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Lysosomal Membrane Disorders: LAMP-2 Deficiency |
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293 | (6) |
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Fabry Disease: α-Galactosidase A Deficiency |
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299 | (10) |
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Schindler Disease: Deficient α-N-Acetylgalactosaminidase Activity |
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309 | (8) |
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Part D: Degenerative Disorders |
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317 | (13) |
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330 | (9) |
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Genetics of Movement Disorders |
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339 | (19) |
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358 | (20) |
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378 | (5) |
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Kimberlee Michals Matalon |
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The Hereditary Spastic Paraplegias |
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383 | (10) |
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Neuro-oncology: The Neurofibromatoses |
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393 | (11) |
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404 | (21) |
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Part G: Demyelinating Disease |
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425 | (11) |
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Part H: Neuropathies and Neuronopathies |
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436 | (20) |
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The Molecular and Genetic Basis of Spinal Muscular Atrophies |
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456 | (13) |
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Part I: Congenital Myasthenia |
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Congenital Myasthenic Syndromes |
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469 | (14) |
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483 | (13) |
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Limb-Girdle Muscular Dystrophies |
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496 | (10) |
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The Congenital Myopathies |
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506 | (8) |
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514 | (10) |
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Hereditary Inclusion-Body Myopathies |
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524 | (8) |
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532 | (10) |
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Facioscapulohumeral Dystrophy |
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542 | (8) |
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550 | (19) |
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Part K: Dermatologic and Brain Disorders |
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569 | (11) |
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580 | (10) |
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Apolipoprotein E. Structure and Function in Lipid Metabolism and Neurobiology |
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590 | (13) |
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Cerebrotendinous Xanthomatosis |
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603 | (7) |
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Part L: Metabolic Disorders |
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Disorders of Lipid Metabolism |
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610 | (14) |
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Glycogen Storage Diseases |
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624 | (7) |
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Disorders of Galactose Metabolism |
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631 | (7) |
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Inborn Errors of Amino Acid Metabolism |
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638 | (8) |
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Disorders of the Urea Cycle |
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646 | (7) |
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Disorders of Glucose Transport |
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653 | (10) |
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Maple Syrup Urine Disease: Clinical and Biochemical Considerations |
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663 | (9) |
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Congenital Disorders of N-Linked Glycosylation |
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672 | (11) |
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Disorders of Glutathione Metabolism |
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683 | (6) |
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Disorders of Purine Metabolism |
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689 | (6) |
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695 | (17) |
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712 | (9) |
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Disorders of Copper Metabolism: Wilson Disease and Menkes Disease |
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721 | (6) |
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Genetic and Dietary Influences on Life Span |
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727 | (6) |
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Vitamins: Cobalamin and Folate |
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733 | (6) |
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Disorders of Biotin Metabolism: Treatable Neurologic Syndromes |
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739 | (8) |
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SECTION III: PSYCHIATRIC DISEASE |
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747 | (106) |
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Psychiatric Diseases: Challenges in Psychiatric Genetics |
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749 | (10) |
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759 | (17) |
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776 | (12) |
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788 | (14) |
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Obsessive-Compulsive Disorder and Tourette Syndrome |
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802 | (15) |
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Genetic Bases of Addictive Behaviors |
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817 | (13) |
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830 | (23) |
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Margaret A. Pericak-Vance |
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SECTION IV: A NEUROLOGIC GENE MAP |
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853 | (16) |
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855 | (14) |
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Antonio V. Delgado-Escueta |
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| Index |
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869 | |
