Table Of Contents: SECTION I. GENERAL CONCEPTS AND TOOLS
1. Mendelian, non-Mendelian, multigenic inheritance, and epigenetics
2. Precision medicine in neurology
3. Epigenomics of neurological disorders
4. Genotype5. Immunogenetics of neurological disease
6. Pharmacogenomic approaches to the treatment of sporadic Alzheimer’s disease
7. Application of mouse genetics to human disease: generation and analysis of mouse models
8. DNA sequencing and other methods of exonic and genomic analyses
9. Association, cause, and causal association, revised: reasoning and methods
10. Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders
11. Genomics of human neurological disorders
12. CRISPR-Cas immune systems and genome engineering
13. Direct induction of neural cells from somatic cells
14. Neuroimaging in dementias
15. Cognitive enhancers, intellectual disability, and personal identity: emerging ethical issues
16. Genetic counseling
17. Antisense oligonucleotide drugs for neurological and neuromuscular disease
SECTION II. NEUROLOGIC DISEASES
18. Cerebral malformations
19. Global developmental delay and intellectual disability
20. Alzheimer’s disease and down syndrome
21. An overview of Rett syndrome
22. Fragile X clinical features and neurobiology
23. Neurological evaluation and management of autism spectrum disorder
24. Angelman syndrome
25. Prion diseases
SECTION III. NEUROMETABOLIC DISORDERS
Sub-Section: Mitochondrial Disorders
26. The mitochondrial genome
27. Mitochondrial disorders due to mutations in the mitochondrial genome
28. Mitochondrial disorders due to mutations in the nuclear genome
29. Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle, and mitochondrial transport disorders
Sub-Section: Lysosomal Disorders
30. Gaucher disease-neuronopathic forms
31. The Niemann-Pick diseases
32. GM2-gangliosidoses
33. Metachromatic leukodystrophy and multiple sulfatase deficiency
34. Krabbe disease: globoid cell leukodystrophy
35. The mucopolysaccharidoses
36. The mucolipidoses
37. Disorders of glycoprotein degradation: sialidosis, fucosidosis, a-mannosidosis, ß-mannosidosis, and aspartylglycosaminuria
38. ß-Galactosidase deficiency: GM1 gangliosidosis, Morquio B disease, and galactosialidosis
39. Acid ceramidase deficiency: Farber
lipogranulomatosis, spinal muscular atrophy associated with progressive myoclonic epilepsy and peripheral osteolysis
40. Wolman disease
41. Lysosomal membrane disorders: lysosome associated membrane protein-2 deficiency (Danon disease)
42. Fabry disease: a-galactosidase A deficiency
43. Schindler disease: deficient a-Nacetylgalactosaminidase activity
Sub-Section: Metal Metabolism Disorders
44. Wilson disease
45. Menkes disease and other ATP7A disorders
46. Neurodegeneration with brain iron accumulation
47. Pantothenate kinase-associated neurodegeneration
48. Disorders of manganese transport
49. Aceruloplasminemia
Sub-Section: Vitamin Disorders
50. Genetic and dietary influences on life span
51. Vitamins: cobalamin and folate
52. Inherited biotin-responsive disorders
53. Disorders of pyridoxine metabolism
Sub-Section: Lipid Metabolism Disorders
54. Disorders of lipid metabolism
55. Lipoprotein disorders
56. Cerebrotendinous xanthomatosis
Sub-Section: Other Metabolic Disorders
57. Organic acid disorders
58. Glycogen and polyglucosan storage diseases
59. Disorders of galactose metabolism
60. Inborn errors of amino acid metabolism phenylketonuria and disorders of biopterin metabolism
61. Urea cycle disorders
62. Glucose transporter type I deficiency and other glucose flux disorders
63. Maple syrup urine disease: biochemical, clinical and therapeutic considerations
64. Congenital disorders of N-linked glycosylation
65. Disorders of glutathione metabolism
66. Canavan disease
67. Neurotransmitter disorders
69. Purines and pyrimidines
70. The acute porphyrias