Search for the best prices     on the Internet!

Table of Contents:

Contributing Authors
Introduction
Pt. I General Concepts of Mechanisms of Disease 1
Ch. 1 Triplet Repeat Disease: General Concepts and Mechanisms of Disease 3
Ch. 2 Prions 13
Ch. 3 Mendelian, Nonmendelian, Multigenic Inheritance, and Complex Traits 33
Ch. 4 Degenerative Diseases and Protein Processing 51
Ch. 5 Selected Genetically Engineered Models Relevant to Human Neurodegenerative Disease 65
Ch. 6 Gene Mapping to Gene Targeting: Application of Mouse Genetics to Human Disease 81
Ch. 7 The Human Genome Project 91
Ch. 8 Gene Therapy for Central Nervous System Disorders 101
Ch. 9 Emerging Ethical Issues in Neurology, Psychiatry, and the Neurosciences 109
Ch. 10 Genotype-Phenotype Correlations 115
Pt. II Neurologic Diseases 123
Ch. 11 Down Syndrome 125
Ch. 12 Triplet Repeats: Genetics, Clinical Features, and Pathogenesis 135
Ch. 13 Prion Diseases 151
Ch. 14 The Mitochondrial Genome 179
Ch. 15 Mitochondrial Disorders Due to Mutations in the Mitochondrial Genome 189
Ch. 16 Mitochondrial Disorders Due to Mutations in the Nuclear Genome 197
Ch. 17 Mitochondria in Neurodegenerative Disorders 205
Ch. 18 Peroxisomal Disorders 213
Ch. 19 Gaucher Disease 229
Ch. 20 The Niemann-Pick Diseases 235
Ch. 21 The Gm2-Gangliosidoses 239
Ch. 22 Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency: Sulfatide Lipidosis 247
Ch. 23 Krabbe Disease: Globoid Cell Leukodystrophy 255
Ch. 24 The Mucopolysaccharidoses and the Mucolipidoses 263
Ch. 25 Disorders of Glycoprotein Degradations: Sialidosis, Fucosidosis, Alpha-Mannosidosis, Beta-Mannosidosis, and Aspartylglycosaminuria 279
Ch. 26 Beta-Galactosidase Deficiency: GM1 Gangaliosidosis, Morquio B Disease, and Galactosialidosis 291
Ch. 27 Farber Disease: Acid Ceramidase Deficiency, Farber Lipogranulomatosis 299
Ch. 28 Wolman Disease 305
Ch. 29 Lysosomal Membrane Disorders - LAMP-2 Deficiency 309
Ch. 30 Fabry Disease: [alpha]-Galactosidase A Deficiency 315
Ch. 31 Schindler Disease: Deficient [alpha]-N-Acetylgalactosaminidase Activity 323
Ch. 32 Alzheimer's Disease 331
Ch. 33 Frontotemporal Dementias 343
Ch. 34 Genetics of Movement Disorders 351
Ch. 35 The Inherited Ataxias 369
Ch. 36 Caravan Disease 383
Ch. 37 Neuro-Oncology: The Neurofibromatoses 389
Ch. 38 The Genetic Epilepsies 399
Ch. 39 Demyelinating Diseases 421
Ch. 40 Peripheral Neuropathies 435
Ch. 41 The Molecular and Genetic Basis of Spinal Muscular Atrophies 455
Ch. 42 Dystrophinopathies 467
Ch. 43 Limb-Girdle Muscular Dystrophies 479
Ch. 44 The Congenital Myopathies 487
Ch. 45 The Distal Myopathies 493
Ch. 46 Hereditary Inclusion Body Myopathies 501
Ch. 47 The Mytonic Dystrophies 511
Ch. 48 Facioscapulohumeral Dystrophy 519
Ch. 49 Ion Channel Disorders 527
Ch. 50 The Phakomatoses 545
Ch. 51 Lipoprotein Disorders 555
Ch. 52 Apolipoprotein E: Structure and Function in Lipid Metabolism and Neurobiology 565
Ch. 53 Cerebrotendinous Xanthomatosis 575
Ch. 54 Glycogen Storage Diseases 583
Ch. 55 Disorders of Lipid Metabolism 591
Ch. 56 Disorders of Galactose Metabolism 603
Ch. 57 Inborn Errors of Amino Acid Metabolism 609
Ch. 58 Disorders of the Urea Cycle 617
Ch. 59 Disorders of Glucose Transport 625
Ch. 60 Maple Syrup Urine Disease: Clinical and Biochemical Perspectives 635
Ch. 61 Metabolic Disorders-Congenital Disorders of Glycosylation 643
Ch. 62 Disorders of Glutathione Metabolism 651
Ch. 63 Purines 657
Ch. 64 The Porphyrias 663
Ch. 65 Friedrich's Ataxia and Iron Metabolism 679
Ch. 66 Disorders of Copper Metabolism: Wilson Disease and Menkes Disease 687
Ch. 67 The Influence of [alpha]-Tocopherol, Calorie Restriction, and Genes on Life Span 693
Ch. 68 Vitamins: Cobolamine and Folate 699
Ch. 69 Disorders of Biotin Metabolism: Treatable Neurologic Syndromes 705
Ch. 70 Psychiatric Diseases: Challenges in Psychiatric Genetics 713
Ch. 71 Depression 725
Ch. 72 Bipolar Disorder 741
Ch. 73 Schizophrenia 755
Ch. 74 Obsessive-Compulsive Disorder and Tourette Syndrome 767
Ch. 75 Molecular and Genetic Bases of the Addictions 779
Ch. 76 Autism 791
Ch. 77 A Neurologic Gene Map 813
Index 827