The molecular and genetic basis of neurologic and psychiatric disease / edited by Roger N. Rosenberg ... [and others].

Format:

Book

Contributor:

Rosenberg, Roger N.

Language:

English

Subjects (All):

Nervous system--Diseases--Molecular aspects.

Nervous system.

Nervous system--Diseases--Genetic aspects.

Molecular neurobiology.

Neurogenetics.

Nervous System Diseases--genetics.

Mental Disorders--genetics.

Molecular Biology.

Nervous system--Diseases.

Medical Subjects:

Nervous System Diseases--genetics.

Mental Disorders--genetics.

Molecular Biology.

Physical Description:

xxi, 844 pages, x pages of plates : illustrations (some color) ; 29 cm

Edition:

Third edition.

Place of Publication:

Philadelphia : Butterworth-Heinemann, [2003]

Summary:

110 of the world's foremost authorities explore the latest advances in molecular and cellular neurobiology and molecular neurogenetics and their implications for the development of pharmacologic or gene therapy for patients with genetic diseases of the nervous system. The 3rd Edition features a new section on psychiatric diseases, 26 additional new chapters, and an even stronger clinical focus, offering practical guidance on a full range of diseases and the roles that molecular biology and genetics play in their diagnosis and management.the latest advances in molecular research.

Contents:

Part I General Concepts of Mechanisms of Disease 1

Chapter 1 Triplet Repeat Disease: General Concepts and Mechanisms of Disease / Vicky L. Brandt, Huda Y. Zoghbi 3

Chapter 2 Prions / Stanley B. Prusiner 13

Chapter 3 Mendelian, Nonmendelian, Multigenic Inheritance, and Complex Traits / Ken Inoue, James R. Lupski 33

Chapter 4 Degenerative Diseases and Protein Processing / Stanley B. Prusiner 51

Chapter 5 Selected Genetically Engineered Models Relevant to Human Neurodegenerative Disease / Donald L. Price, David R. Borchelt, Michael K. Lee, Philip C. Wong 65

Chapter 6 Gene Mapping to Gene Targeting: Application of Mouse Genetics to Human Disease / George A. Carlson 81

Chapter 7 The Human Genome Project / Robert L. Nussbaum 91

Chapter 8 Gene Therapy for Central Nervous System Disorders / Theodore Friedmann 101

Chapter 9 Emerging Ethical Issues in Neurology, Psychiatry, and the Neurosciences / Arthur L. Caplan, Martha J. Farah 109

Chapter 10 Genotype-Phenotype Correlations / Thomas D. Bird, Gerard D. Schellenberg 115

Part II Neurologic Diseases 123

Chapter 11 Down Syndrome / Charles J. Epstein 125

Chapter 12 Triplet Repeats: Genetics, Clinical Features, and Pathogenesis / Vicky L. Brandt, Huda Y. Zoghbi 135

Chapter 13 Prion Diseases / Stephen J. DeArmond, Stanley B. Prusiner 151

Mitochondrial Disorders

Chapter 14 The Mitochondrial Genome / Eric A. Schon 179

Chapter 15 Mitochondrial Disorders Due to Mutations in the Mitochondrial Genome / Salvatore DiMauro, Eduardo Bonilla 189

Chapter 16 Mitochondrial Disorders Due to Mutations in the Nuclear Genome / Michio Hirano 197

Chapter 17 Mitochondria in Neurodegenerative Disorders / Giovanni Manfredi, M. Flint Beal 205

Peroxisomal Disorders

Chapter 18 Peroxisomal Disorders / Hugo W. Moser 213

Lysosomal Disorders

Chapter 19 Gaucher Disease / Roscoe O. Brady, Raphael Schiffmann 229

Chapter 20 The Niemann-Pick Diseases / Roscoe O. Brady, Raphael Schiffman 235

Chapter 21 The Gm2-Gangliosidoses / Edwin H. Kolodny, Orit Neudorfer 239

Chapter 22 Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency: Sulfatide Lipidosis / Edwin H. Kolodny, Orit Neudorfer 247

Chapter 23 Krabbe Disease: Globoid Cell Leukodystrophy / David A. Wenger 255

Chapter 24 The Mucopolysaccharidoses and the Mucolipidoses / Reuben Matalon, Kimberlee Michals Matalon 263

Chapter 25 Disorders of Glycoprotein Degradation: Sialidosis, Fucosidosis, Alpha-Mannosidosis, Beta-Mannosidosis, and Aspartylglycosaminuria / William G. Johnson 279

Chapter 26 Beta-Galactosidase Deficiency: GM1 Gangaliosidosis, Morquio B Disease, and Galactosialidosis / Kunihiko Suzuki 291

Chapter 27 Farber Disease: Acid Ceramidase Deficiency, Farber Lipogranulomatosis / Hugo W. Moser 299

Chapter 28 Wolman Disease / Rita Alam, Frank M. Yatsu 305

Chapter 29 Lysosomal Membrane Disorders

LAMP-2 Deficiency / Ichizo Nishino 309

Chapter 30 Fabry Disease: &ga-Galactosidase A Deficiency / Robert J. Desnick 315

Chapter 31 Schindler Disease: Deficient [alpha]-N-Acetylgalactosaminidase Activity / Robert J. Desnick, Detlev Schindler 323

Degenerative Disorders

Chapter 32 Alzheimer's Disease / Dennis J. Selkoe 331

Chapter 33 Frontotemporal Dementias / John Q. Trojanowski, Virginia M.-Y. Lee 343

Chapter 34 Genetics of Movement Disorders / Juliette M. Harris, Stanley Fahn 351

Chapter 35 The Inherited Ataxias / Roger N. Rosenberg, Henry L. Paulson 369

Chapter 36 Canavan Disease / Reuben Matalon, Kimberlee Michals Matalon 383

Neuro-Oncology

Chapter 37 Neuro-Oncology: The Neurofibromatoses / Christina A. Gurnett, David H. Gutmann 389

Epilepsy

Chapter 38 The Genetic Epilepsies / Marc A. Dichter, Jeffrey R. Buchhalter 399

Demyelinating Disease

Chapter 39 Demyelinating Diseases / Stephen L. Hauser, Jorge R. Oksenberg 421

Neuropathies and Neuronopathies

Chapter 40 Peripheral Neuropathies / Steven S. Scherer, Kleopas A. Kleopa, Phillip F. Chance, Merrill D. Benson 435

Chapter 41 The Molecular and Genetic Basis of Spinal Muscular Atrophies / Ching H. Wang 455

Myopathies

Chapter 42 Dystrophinopathies / Eric P. Hoffman 467

Chapter 43 Limb-Girdle Muscular Dystrophies / Rita Barresi, Kevin P. Campbell 479

Chapter 44 The Congenital Myopathies / Heinz Jungbluth, Caroline A. Sewry, Francesco Muntoni 487

Chapter 45 The Distal Myopathies / Ami K. Mankodi, Robert C. Griggs 493

Chapter 46 Hereditary Inclusion Body Myopathies / Valerie Askanas, W. King Engel 501

Chapter 47 The Myotonic Dystrophies / Richard T. Moxley III, Giovanni Meola 511

Chapter 48 Facioscapulohumeral Dystrophy / Rabi Tawil 519

Chapter 49 Ion Channel Disorders / Kleopas A. Kleopa, Robert L. Barchi 527

Dermatologic and Brain Disorders

Chapter 50 The Phakomatoses / Mia MacCollin 545

Lipoprotein Disorders

Chapter 51 Lipoprotein Disorders / Mary J. Malloy, John P. Kane 555

Chapter 52 Apolipoprotein E: Structure and Function in Lipid Metabolism and Neurobiology / Robert W. Mahley, Yadong Huang 565

Chapter 53 Cerebrotendinous Xanthomatosis / Vladimir M. Berginer, Gerald Salen, Shailendra Patel 575

Metabolic Disorders

Chapter 54 Glycogen Storage Diseases / Salvatore DiMauro, Serenella Servidei, Seiichi Tsujino 583

Chapter 55 Disorders of Lipid Metabolism / Stefano DiDonato, Franco Taroni 591

Chapter 56 Disorders of Galactose Metabolism / Louis J. Elsas II 603

Chapter 57 Inborn Errors of Amino Acid Metabolism / William L. Nyhan, Richard Harold Haas 609

Chapter 58 Disorders of the Urea Cycle / Lewis J. Waber 617

Chapter 59 Disorders of Glucose Transport / Darryl C. DeVivo, Dong Wang, Juan M. Pascual 625

Chapter 60 Maple Syrup Urine Disease: Clinical and Biochemical Perspectives / David T. Chuang, Jacinta L. Chuang, Rody P. Cox 635

Chapter 61 Metabolic Disorders-Congenital Disorders of Glycosylation / Marc C. Patterson 643

Chapter 62 Disorders of Glutathione Metabolism / Ellinor Ristoff, Agne Larsson 651

Purines

Chapter 63 Purines / William L. Nyhan 657

Porphyrias

Chapter 64 The Porphyrias / D. Montgomery Bissell 663

Metal Metabolism

Chapter 65 Friedreich's Ataxia and Iron Metabolism / Massimo Pandolfo 679

Chapter 66 Disorders of Copper Metabolism: Wilson Disease and Menkes Disease / John H. Menkes 687

Vitamins

Chapter 67 The Influence of [alpha]-Tocopherol, Caloric Restriction, and Genes on Life Span / Richard Mayeux 693

Chapter 68 Vitamins: Cobalamin and Folate / Michael Shevell, David S. Rosenblatt 699

Chapter 69 Disorders of Biotin Metabolism: Treatable Neurologic Syndromes / Barry Wolf 705

Part III Psychiatric Disease 711

Chapter 70 Psychiatric Diseases: Challenges in Psychiatric Genetics / Maja Bucan, Edward S. Brodkin 713

Chapter 71 Depression / Kerry J. Ressler, Charles B. Nemeroff 725

Chapter 72 Bipolar Disorder / Carol A. Mathews, Victor I. Reus, Nelson B. Freimer 741

Chapter 73 Schizophrenia / David W. Volk, David A. Lewis 755

Chapter 74 Obsessive-Compulsive Disorder and Tourette Syndrome / Paul J. Lombroso, Marcos T. Mercadante, Larry Scahill 767

Chapter 75 Molecular and Genetic Bases of the Addictions / John C. Crabbe, Jr., Kristine M. Wiren 779

Chapter 76 Autism / M. L. Cuccaro, K. H. Lewis, Margaret. A. Pericak-Vance 791

Part IV A Neurologic Gene Map 811

Chapter 77 A Neurologic Gene Map / Roger N. Rosenberg, Anita Harding, Antonio V. Delgado-Escueta, Susan T. Iannaccone 813.

Notes:

Rev. ed. of: The molecular and genetic basis of neurological disease. 2nd ed. 1997.

Includes bibliographical references and index.

ISBN:

0750673605

OCLC:

51461169