Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Seventh Edition, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. This volume has been thoroughly revised and includes newly commissioned chapters on ethics, genetic counselling and genet therapy for the central nervous system disorders. A favorite of over four generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the previous edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community at large.
1. Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease - p. iii 2. Cover - p. iii 3. Title Page - p. iii 4. Copyright Page - p. iv 5. The editors - p. v 6. Dedication - p. vi 7. Table of Contents - p. ix 8. List of Contributors - p. xix 9. About the editors - p. xxv 10. Foreword for the sixth edition - p. xxxi 11. Prologue for the sixth edition - p. xxxiii 12. Chapter 1 Mendelian, non-Mendelian, multigenic inheritance, and epigenetics - p. 3 13. Chapter 2 Precision medicine in neurology - p. 29 14. Chapter 3 Epigenomics of neurological disorders - p. 45 15. Chapter 4 What genes can and cannot do - p. 63 16. Chapter 5 Genotype–phenotype considerations in neurogenetic disease - p. 75 17. Chapter 6 Immunogenetics of neurological disease - p. 87 18. Chapter 7 Pharmacogenomic approaches to the treatment of sporadic Alzheimer’s disease - p. 99 19. Chapter 8 Application of mouse genetics to human disease: generation and analysis of mouse models - p. 115 20. Chapter 9 DNA sequencing and other methods of exonic and genomic analyses - p. 131 21. Chapter 10 Association, cause, and causal association. Revision 2: playing the changes - p. 143 22. Chapter 11 Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders - p. 155 23. Chapter 12 Genomics of human neurological disorders - p. 173 24. Chapter 13 CRISPR/Cas9-based genetic engineering for translational research in neurological disorders - p. 187 25. Chapter 14 Neural cells derived from pluripotent stem cells and directly induced from somatic cells - p. 207 26. Chapter 15 Neuroimaging in dementia - p. 213 27. Chapter 16 Neuroethics - p. 225 28. Chapter 17 Genetic counseling - p. 233 29. Chapter 18 Antisense oligonucleotide drugs for neurological and neuromuscular diseases - p. 249 30. Chapter 19 Autophagy and neurological disorders - p. 277 31. Chapter 20 The aging brain - p. 287 32. Chapter 21 Cerebral malformations - p. 303 33. Chapter 22 Global developmental delay and intellectual disability - p. 325 34. Chapter 23 Aging and dementia in Down syndrome - p. 345 35. Chapter 24 An overview of Rett syndrome - p. 363 36. Chapter 25 Fragile X clinical features and neurobiology - p. 375 37. Chapter 26 Neurological evaluation and management of autism spectrum disorder - p. 391 38. Chapter 27 Angelman syndrome - p. 415 39. Chapter 28 The prion diseases - p. 429 40. Chapter 29 Leptin-related disorders of the nervous system - p. 451 41. Chapter 30 Genetics of autonomic disorders - p. 473 42. Chapter 31 The mitochondrial genome - p. 491 43. Chapter 32 Mitochondrial disorders due to mutations in the mitochondrial genome - p. 505 44. Chapter 33 Mitochondrial disorders due to mutations in the nuclear genome - p. 521 45. Chapter 34 Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle, and mitochondrial transport disorders - p. 533 46. Chapter 35 Gaucher disease—neuronopathic forms - p. 547 47. Chapter 36 The Niemann–Pick diseases - p. 559 48. Chapter 37 GM2-gangliosidoses - p. 571 49. Chapter 38 Metachromatic leukodystrophy and multiple sulfatase deficiency - p. 585 50. Chapter 39 Krabbe disease: globoid cell leukodystrophy - p. 593 51. Chapter 40 Leukodystrophies—an overview - p. 605 52. Chapter 41 The mucopolysaccharidoses - p. 609 53. Chapter 42 The mucolipidoses - p. 629 54. Chapter 43 Disorders of glycoprotein degradation: α-mannosidosis, β-mannosidosis, fucosidosis, sialidosis, and aspartylglycosaminuria - p. 635 55. Chapter 44 GM1 gangliosidosis, Morquio disease, galactosialidosis, and sialidosis - p. 645 56. Chapter 45 Acid ceramidase deficiency: Farber lipogranulomatosis, spinal muscular atrophy associated with progressive myoclonic epilepsy and peripheral osteolysis - p. 665 57. Chapter 46 Wolman disease - p. 677 58. Chapter 47 Lysosomal membrane disorders: lysosome-associated membrane protein-2 deficiency (Danon disease) - p. 685 59. Chapter 48 Fabry disease: α-galactosidase A deficiency - p. 695 60. Chapter 49 Schindler disease: deficient α-N-acetylgalactosaminidase activity - p. 709 61. Chapter 50 Organic acid disorders - p. 725 62. Chapter 51 Glycogen and polyglucosan storage diseases - p. 733 63. Chapter 52 Disorders of galactose metabolism - p. 745 64. Chapter 53 Inborn errors of amino acid metabolism - p. 761 65. Chapter 54 Urea cycle disorders - p. 779 66. Chapter 55 Glucose transporter type I deficiency and other glucose flux disorders - p. 799 67. Chapter 56 Maple syrup urine disease: biochemical, clinical, and therapeutic considerations - p. 815 68. Chapter 57 Congenital disorders of N-linked Glycosylation - p. 827 69. Chapter 58 Disorders of glutathione metabolism - p. 847 70. Chapter 59 Canavan disease - p. 861 71. Chapter 60 Neurotransmitter disorders - p. 869 72. Chapter 61 Peroxisomal disorders - p. 887 73. Chapter 62 Purines and pyrimidines - p. 897 74. Chapter 63 The acute porphyrias - p. 917 75. Index - p. 935
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Seventh Edition, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. This volume has been thoroughly revised and includes newly commissioned chapters on ethics, genetic counselling and genet therapy for the central nervous system disorders. A favorite of over four generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the previous edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community at large.
1. Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease - p. iii 2. Cover - p. iii 3. Title Page - p. iii 4. Copyright Page - p. iv 5. The editors - p. v 6. Dedication - p. vi 7. Table of Contents - p. ix 8. List of Contributors - p. xix 9. About the editors - p. xxv 10. Foreword for the sixth edition - p. xxxi 11. Prologue for the sixth edition - p. xxxiii 12. Chapter 1 Mendelian, non-Mendelian, multigenic inheritance, and epigenetics - p. 3 13. Chapter 2 Precision medicine in neurology - p. 29 14. Chapter 3 Epigenomics of neurological disorders - p. 45 15. Chapter 4 What genes can and cannot do - p. 63 16. Chapter 5 Genotype–phenotype considerations in neurogenetic disease - p. 75 17. Chapter 6 Immunogenetics of neurological disease - p. 87 18. Chapter 7 Pharmacogenomic approaches to the treatment of sporadic Alzheimer’s disease - p. 99 19. Chapter 8 Application of mouse genetics to human disease: generation and analysis of mouse models - p. 115 20. Chapter 9 DNA sequencing and other methods of exonic and genomic analyses - p. 131 21. Chapter 10 Association, cause, and causal association. Revision 2: playing the changes - p. 143 22. Chapter 11 Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders - p. 155 23. Chapter 12 Genomics of human neurological disorders - p. 173 24. Chapter 13 CRISPR/Cas9-based genetic engineering for translational research in neurological disorders - p. 187 25. Chapter 14 Neural cells derived from pluripotent stem cells and directly induced from somatic cells - p. 207 26. Chapter 15 Neuroimaging in dementia - p. 213 27. Chapter 16 Neuroethics - p. 225 28. Chapter 17 Genetic counseling - p. 233 29. Chapter 18 Antisense oligonucleotide drugs for neurological and neuromuscular diseases - p. 249 30. Chapter 19 Autophagy and neurological disorders - p. 277 31. Chapter 20 The aging brain - p. 287 32. Chapter 21 Cerebral malformations - p. 303 33. Chapter 22 Global developmental delay and intellectual disability - p. 325 34. Chapter 23 Aging and dementia in Down syndrome - p. 345 35. Chapter 24 An overview of Rett syndrome - p. 363 36. Chapter 25 Fragile X clinical features and neurobiology - p. 375 37. Chapter 26 Neurological evaluation and management of autism spectrum disorder - p. 391 38. Chapter 27 Angelman syndrome - p. 415 39. Chapter 28 The prion diseases - p. 429 40. Chapter 29 Leptin-related disorders of the nervous system - p. 451 41. Chapter 30 Genetics of autonomic disorders - p. 473 42. Chapter 31 The mitochondrial genome - p. 491 43. Chapter 32 Mitochondrial disorders due to mutations in the mitochondrial genome - p. 505 44. Chapter 33 Mitochondrial disorders due to mutations in the nuclear genome - p. 521 45. Chapter 34 Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle, and mitochondrial transport disorders - p. 533 46. Chapter 35 Gaucher disease—neuronopathic forms - p. 547 47. Chapter 36 The Niemann–Pick diseases - p. 559 48. Chapter 37 GM2-gangliosidoses - p. 571 49. Chapter 38 Metachromatic leukodystrophy and multiple sulfatase deficiency - p. 585 50. Chapter 39 Krabbe disease: globoid cell leukodystrophy - p. 593 51. Chapter 40 Leukodystrophies—an overview - p. 605 52. Chapter 41 The mucopolysaccharidoses - p. 609 53. Chapter 42 The mucolipidoses - p. 629 54. Chapter 43 Disorders of glycoprotein degradation: α-mannosidosis, β-mannosidosis, fucosidosis, sialidosis, and aspartylglycosaminuria - p. 635 55. Chapter 44 GM1 gangliosidosis, Morquio disease, galactosialidosis, and sialidosis - p. 645 56. Chapter 45 Acid ceramidase deficiency: Farber lipogranulomatosis, spinal muscular atrophy associated with progressive myoclonic epilepsy and peripheral osteolysis - p. 665 57. Chapter 46 Wolman disease - p. 677 58. Chapter 47 Lysosomal membrane disorders: lysosome-associated membrane protein-2 deficiency (Danon disease) - p. 685 59. Chapter 48 Fabry disease: α-galactosidase A deficiency - p. 695 60. Chapter 49 Schindler disease: deficient α-N-acetylgalactosaminidase activity - p. 709 61. Chapter 50 Organic acid disorders - p. 725 62. Chapter 51 Glycogen and polyglucosan storage diseases - p. 733 63. Chapter 52 Disorders of galactose metabolism - p. 745 64. Chapter 53 Inborn errors of amino acid metabolism - p. 761 65. Chapter 54 Urea cycle disorders - p. 779 66. Chapter 55 Glucose transporter type I deficiency and other glucose flux disorders - p. 799 67. Chapter 56 Maple syrup urine disease: biochemical, clinical, and therapeutic considerations - p. 815 68. Chapter 57 Congenital disorders of N-linked Glycosylation - p. 827 69. Chapter 58 Disorders of glutathione metabolism - p. 847 70. Chapter 59 Canavan disease - p. 861 71. Chapter 60 Neurotransmitter disorders - p. 869 72. Chapter 61 Peroxisomal disorders - p. 887 73. Chapter 62 Purines and pyrimidines - p. 897 74. Chapter 63 The acute porphyrias - p. 917 75. Index - p. 935
