Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Seventh Edition provides a comprehensive introduction and reference to the foundations and practical aspects relevant to the majority of neurologic and psychiatric disease. This updated volume focuses on degenerative disorders, movement disorders, neuro-oncology, neurocutaneous disorders, epilepsy, white matter diseases, neuropathies and neuronopathies, muscle and neuromuscular junction disorders, stroke, psychiatric disease, and a neurologic gene map. This volume includes new chapters on Von Hippel-Lindau disease, antisocial and violent behavior and Autism. A favorite of over four generations of students, clinicians and scholars, this new edition retains and expands on the informative, concise and critical tone of the previous edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, related professionals, and for the neuroscience and neurology research community at large.
1. Introduction to the seventh edition - p. xxxii 2. List of Tables - p. xxxv 3. Section I: Degenerative disorders - p. xxxv 4. Chapter 1: Genomics of Alzheimer’s disease - p. xxxv 5. Chapter 2: Parkinson's disease and related disorders - p. 12 6. Chapter 3: Frontotemporal dementia - p. 28 7. Chapter 4: The neuronal ceroid-lipofuscinoses (Batten disease) - p. 51 8. Section II: Movement disorders - p. 74 9. Chapter 5: The inherited ataxias - p. 74 10. Chapter 6: Friedreich ataxia - p. 103 11. Chapter 7: Clinical and molecular findings in Ataxia–Telangiectasia - p. 120 12. Chapter 8: Dystonia - p. 131 13. Chapter 9: Huntington’s disease - p. 164 14. Chapter 10: The hereditary spastic paraplegias - p. 178 15. Section III: Neuro-Oncology - p. 204 16. Chapter 11: Glioblastoma - p. 204 17. Section IV: Neurocutaneous disorders - p. 224 18. Chapter 12: Neurofibromatosis type 1 - p. 224 19. Chapter 13: Tuberous sclerosis complex - p. 242 20. Chapter 14: Sturge–Weber syndrome - p. 259 21. Chapter 15: Hemangioblastomas of the central nervous system - p. 273 22. Chapter 16: Incontinentia pigmenti - p. 282 23. Section V: Epilepsy - p. 291 24. Chapter 17: Epilepsy genetics in clinical practice today and for the future - p. 291 25. Section VI: Lipid metabolism disorders - p. 316 26. Chapter 18: Disorders of lipid metabolism - p. 316 27. Chapter 19: Lipoprotein disorders - p. 346 28. Chapter 20: Cerebrotendinous xanthomatosis - p. 362 29. Section VII: White matter diseases - p. 377 30. Chapter 21: Multiple sclerosis - p. 377 31. Chapter 22: Vanishing white matter - p. 411 32. Section VIII: Neuropathies and neuronopathies - p. 425 33. Chapter 23: Amyotrophic lateral sclerosis - p. 425 34. Chapter 24: Peripheral neuropathies - p. 453 35. Chapter 25: Spinal muscular atrophy - p. 493 36. Chapter 26: Pain genetics - p. 510 37. Section IX: Muscle and neuromuscular junction disorders - p. 532 38. Chapter 27: Dystrophinopathies - p. 532 39. Chapter 28: Limb-girdle muscular dystrophy - p. 554 40. Chapter 29: The congenital myopathies - p. 570 41. Chapter 30: The distal myopathies - p. 585 42. Chapter 31: Hereditary inclusion-body myopathies - p. 598 43. Chapter 32: The myotonic dystrophies - p. 610 44. Chapter 33: Facioscapulohumeral muscular dystrophy - p. 628 45. Chapter 34: Muscle channelopathies: periodic paralyses and nondystrophic myotonias - p. 645 46. Chapter 35: Congenital myasthenic syndromes - p. 662 47. Section X: Stroke - p. 681 48. Chapter 36: Cerebral vasculopathies - p. 681 49. Chapter 37: Coagulopathies - p. 703 50. Chapter 38: Sickle cell disease - p. 719 51. Section XI: Metal metabolism disorders - p. 737 52. Chapter 39: Wilson disease - p. 737 53. Chapter 40: Menkes disease and other ATP7A disorders - p. 754 54. Chapter 41: Neurodegeneration with brain iron accumulation - p. 763 55. Chapter 42: Pantothenate kinase–associated neurodegeneration - p. 774 56. Chapter 43: Disorders of manganese transport - p. 784 57. Chapter 44: Aceruloplasminemia - p. 797 58. Section XII: Vitamin disorders - p. 810 59. Chapter 45: Genetic and dietary influences on life span - p. 810 60. Chapter 46: Vitamins: cobalamin and folate - p. 828 61. Chapter 47: Inherited disorders associated to biotin and its metabolism - p. 843 62. Chapter 48: Disorders of pyridoxine metabolism - p. 856 63. Section XIII: Psychiatric disease - p. 872 64. Chapter 49: Unipolar depression - p. 872 65. Chapter 50: Bipolar disorder - p. 892 66. Chapter 51: Schizophrenia - p. 920 67. Chapter 52: Obsessive–compulsive disorder - p. 933 68. Chapter 53: Tourette syndrome - p. 945 69. Chapter 54: Addiction - p. 959 70. Section XIV: A neurologic gene map - p. 972 71. Chapter 55: A neurologic gene map - p. 972 72. Index - p. 1081
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Seventh Edition provides a comprehensive introduction and reference to the foundations and practical aspects relevant to the majority of neurologic and psychiatric disease. This updated volume focuses on degenerative disorders, movement disorders, neuro-oncology, neurocutaneous disorders, epilepsy, white matter diseases, neuropathies and neuronopathies, muscle and neuromuscular junction disorders, stroke, psychiatric disease, and a neurologic gene map. This volume includes new chapters on Von Hippel-Lindau disease, antisocial and violent behavior and Autism. A favorite of over four generations of students, clinicians and scholars, this new edition retains and expands on the informative, concise and critical tone of the previous edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, related professionals, and for the neuroscience and neurology research community at large.
1. Introduction to the seventh edition - p. xxxii 2. List of Tables - p. xxxv 3. Section I: Degenerative disorders - p. xxxv 4. Chapter 1: Genomics of Alzheimer’s disease - p. xxxv 5. Chapter 2: Parkinson's disease and related disorders - p. 12 6. Chapter 3: Frontotemporal dementia - p. 28 7. Chapter 4: The neuronal ceroid-lipofuscinoses (Batten disease) - p. 51 8. Section II: Movement disorders - p. 74 9. Chapter 5: The inherited ataxias - p. 74 10. Chapter 6: Friedreich ataxia - p. 103 11. Chapter 7: Clinical and molecular findings in Ataxia–Telangiectasia - p. 120 12. Chapter 8: Dystonia - p. 131 13. Chapter 9: Huntington’s disease - p. 164 14. Chapter 10: The hereditary spastic paraplegias - p. 178 15. Section III: Neuro-Oncology - p. 204 16. Chapter 11: Glioblastoma - p. 204 17. Section IV: Neurocutaneous disorders - p. 224 18. Chapter 12: Neurofibromatosis type 1 - p. 224 19. Chapter 13: Tuberous sclerosis complex - p. 242 20. Chapter 14: Sturge–Weber syndrome - p. 259 21. Chapter 15: Hemangioblastomas of the central nervous system - p. 273 22. Chapter 16: Incontinentia pigmenti - p. 282 23. Section V: Epilepsy - p. 291 24. Chapter 17: Epilepsy genetics in clinical practice today and for the future - p. 291 25. Section VI: Lipid metabolism disorders - p. 316 26. Chapter 18: Disorders of lipid metabolism - p. 316 27. Chapter 19: Lipoprotein disorders - p. 346 28. Chapter 20: Cerebrotendinous xanthomatosis - p. 362 29. Section VII: White matter diseases - p. 377 30. Chapter 21: Multiple sclerosis - p. 377 31. Chapter 22: Vanishing white matter - p. 411 32. Section VIII: Neuropathies and neuronopathies - p. 425 33. Chapter 23: Amyotrophic lateral sclerosis - p. 425 34. Chapter 24: Peripheral neuropathies - p. 453 35. Chapter 25: Spinal muscular atrophy - p. 493 36. Chapter 26: Pain genetics - p. 510 37. Section IX: Muscle and neuromuscular junction disorders - p. 532 38. Chapter 27: Dystrophinopathies - p. 532 39. Chapter 28: Limb-girdle muscular dystrophy - p. 554 40. Chapter 29: The congenital myopathies - p. 570 41. Chapter 30: The distal myopathies - p. 585 42. Chapter 31: Hereditary inclusion-body myopathies - p. 598 43. Chapter 32: The myotonic dystrophies - p. 610 44. Chapter 33: Facioscapulohumeral muscular dystrophy - p. 628 45. Chapter 34: Muscle channelopathies: periodic paralyses and nondystrophic myotonias - p. 645 46. Chapter 35: Congenital myasthenic syndromes - p. 662 47. Section X: Stroke - p. 681 48. Chapter 36: Cerebral vasculopathies - p. 681 49. Chapter 37: Coagulopathies - p. 703 50. Chapter 38: Sickle cell disease - p. 719 51. Section XI: Metal metabolism disorders - p. 737 52. Chapter 39: Wilson disease - p. 737 53. Chapter 40: Menkes disease and other ATP7A disorders - p. 754 54. Chapter 41: Neurodegeneration with brain iron accumulation - p. 763 55. Chapter 42: Pantothenate kinase–associated neurodegeneration - p. 774 56. Chapter 43: Disorders of manganese transport - p. 784 57. Chapter 44: Aceruloplasminemia - p. 797 58. Section XII: Vitamin disorders - p. 810 59. Chapter 45: Genetic and dietary influences on life span - p. 810 60. Chapter 46: Vitamins: cobalamin and folate - p. 828 61. Chapter 47: Inherited disorders associated to biotin and its metabolism - p. 843 62. Chapter 48: Disorders of pyridoxine metabolism - p. 856 63. Section XIII: Psychiatric disease - p. 872 64. Chapter 49: Unipolar depression - p. 872 65. Chapter 50: Bipolar disorder - p. 892 66. Chapter 51: Schizophrenia - p. 920 67. Chapter 52: Obsessive–compulsive disorder - p. 933 68. Chapter 53: Tourette syndrome - p. 945 69. Chapter 54: Addiction - p. 959 70. Section XIV: A neurologic gene map - p. 972 71. Chapter 55: A neurologic gene map - p. 972 72. Index - p. 1081
