Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition (7th Ed.) Volume 1
Coordonnateurs : Rosenberg Roger N., Pascual Juan M.
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. Mendelian, non-mendelian, multigenic inheritance and epigenetics
2. Precision medicine in neurology
3. Epigenomics of Neurological Disorders
4. What Genes can and cannot do
5. Genotype-Phenotype Considerations in Neurogenetic Disease
7. Pharmacogenomic Approaches to the Treatment of Sporadic Alzheimer's Disease
8. Application of Mouse Genetics to Human Disease: Generation and Analysis of Mouse Models
9. DNA sequencing and other methods of exonic and genomic analyses
10. Association, cause and causal association. Revision 2: Playing the changes.
11. Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders
12. Genomics of Human Neurological Disorders
13. CRISPR/Cas9-based Genetic Engineering for Translational Research in Neurological Disorders
14. Neural cells derived from pluripotent stem cells and directly induced from somatic cells
15. Neuroimaging in Dementias
16. Ethics
17. Genetic counseling
18. Antisense oligonucleotide drugs for neurological and neuromuscular disease
19. Autophagy and Neurological Disorders
20. The Aging Brain
SECTION II. NEUROLOGIC DISEASES
21. Cerebral Malformations
22. Global Developmental Delay and Intellectual Disability
23. Aging and Dementia in Down Syndrome
24. An Overview of Rett syndrome
25. Fragile X Clinical Features and Neurobiology
26. Neurological Evaluation and Management of Autism Spectrum Disorder
27. Angelman syndrome
28. Prion diseases
29. Leptin Related Disorders of the Nervous System
30. Genetics of Autonomic Disorders
SECTION III. NEUROMETABOLIC DISORDERS
Sub-Section: Mitochondrial Disorders
31. The Mitochondrial Genome
32. Mitochondrial Disorders Due to Mutations in the Mitochondrial Genome
33. Mitochondrial Disorders Due to Mutations in the Nuclear Genome
34. Pyruvate Dehydrogenase, Pyruvate Carboxylase, Krebs Cycle and Mitochondrial Transport Disorders
Sub-Section: Lysosomal Disorders
35. Gaucher Disease – Neuronopathic Forms
36. The Niemann-Pick Diseases
37. The GM2-Gangliosidoses
38. Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency
39. Krabbe Disease: Globoid Cell Leukodystrophy
40. The Leukodystrophies: An Overview
41. Mucopolysaccharidoses
42. Mucolipidoses
43. Disorders of glycoprotein degradation: a-mannosidosis, ß-mannosidosis, fucosidosis, sialidosis, and aspartylglycosaminuria
44. GM1 Gangliosidosis, Morquio Disease, Galactosialidosis and Sialidosis
45. Acid Ceramidase Deficiency: Farber Lipogranulomatosis, Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy and Peripheral Osteolysis
46. Wolman Disease
47. Lysosomal membrane disorders: lysosome-associated membrane protein-2 deficiency (Danon disease)
48. Fabry Disease: a-Galactosidase A Deficiency
49. Schindler Disease: Deficient-N-Acetylgalactosaminidase Activity
SECTION IV: METABOLIC DISORDERS
50. Organic acid disorders
51. Glycogen and Polyglucosan Storage Diseases
52. Disorders of Galactose Metabolism
53. Inborn Errors of Amino Acid Metabolism
54. Urea Cycle Disorders
55. Glucose transporter type I deficiency and other glucose flux disorders
56. Maple syrup urine disease: biochemical, clinical and therapeutic considerations
57. Congenital Disorders of N-linked Glycosylation
58. Disorders of Glutathione Metabolism
59. Canavan Disease
60. Neurotransmitter disorders
61. Peroxisomal disorders
62. Purines and Pyrimidines
63. The Acute Porphyrias
He described for the first time in 1975 Machado Joseph disease, an autosomal dominant cerebellar degeneration, which produces imbalance and impaired coordination, and showed it was due to a unique expansion of DNA in the causal gene. It is the most common inherited form of impaired coordination in the world and his research has provided a genetic marker to eliminate it in large families in future generations.
He has served as the Founding Director of the UT Southwestern NIH funded Alzheimer’s Disease Center and Principal Investigator of the NIH Center Grant from 1987-2019.
He directs an active laboratory effort in Alzheimer’s Disease. He is developing a DNA Aß42 trimer vaccine for Alzheimer's disease for which he was awarded a US Patent "Amyloid Beta Gene Vaccines" in January 2009. It has been tested in mouse, transgenic mouse, New Zealand white rabbits and rhesus monkeys. The vaccine produces effective anti-Aß42 peptide antibody levels and is non-inflammatory in all three species. The vaccine reduces by 40% Aß42 peptide and by 50% tau and phospho-tau in the brains of 3X AD Tg mice, the two main pathologies of Alzheimer’s disease, with high levels of anti-Aß42 antibody and with a non-inflammatory immune response. He is preparing now a Phase 1 Clinical trial Grant - First in Hu
- Both volumes combined provide a comprehensive coverage on the neurogenetic foundation of neurological and psychiatric disease
- This volume provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain
- Includes new chapters on genomics of human neurological disorders, CRISPR and genome engineering
Date de parution : 07-2024
Ouvrage de 1010 p.
21.4x27.6 cm
Thèmes de Rosenberg's Molecular and Genetic Basis of Neurological... :
Mots-clés :
< p> AAV; ALDH7A1; ALPL; ATP; ATP7B gene; Abdominal pain; Abetalipoproteinemia; Absence; Acid sphingomyelinase; Acroparesthesias; Acute attacks; Adaptive immunity; Adrenoleukodystrophy; Allopurinol; Alzheimer’ s disease; Ammonia; Amyotrophic lateral sclerosis; Angelman syndrome; Angiokeratoma; Animal models; AntagoNAT; Antiquitin; Antisense oligonucleotide; Apolipoprotein E; Apolipoproteins; Applied behavior analysis; Arginine; Arylsulfatase; Aspartoacylase deficiency; Aspartylglycosaminuria; Astrocyte; Ataxia; Atherosclerosis; Autism spectrum disorder; Autophagic vacuolar myopathy; Autophagic vacuole; Autophagy; Autosomal recessive gene disorder; BDNF; Basal ganglia disease; Behavior phenotype; Bile acid synthesis; Biogenic amines; Biotin; Biotin transport; Biotinidase deficiency; Blood–brain barrier; Bone marrow transplantation; Brain imaging; Brain iron; Branched-chain amino acids; Branched-chain keto aciduria; CDCA; CRISPR–Cas; CRISPR–Cas9; CTX; Caloric restriction; Canavan disease; Capsid engineering; Cardiac computerized technology; Cardiomyopathy; Carnitine; Cas9; Causal analysis; Central nervous system; Ceramidase deficiency; Ceramide; Cerebellar atrophy; Cerebral atrophy; Cerebrospinal fluid; Cerebrovascular disease; Ceruloplasmin; Chaperone therapy; Chenodeoxycholic acid; Cholesterol; Cholesteryl ester; Cholinergic system; Chorea; Chromosomal rearrangements; Chromosome 15; Chromosome disorder; Chylomicron retention disease; Cirrhosis; Citric acid; Clinical sequencing; CoA; Coagulation defects; Coarse facial features; Cobalamin; Cognitive enhancers; Conditional knockout; Confounding; Congenital disorder of glycosylation; Copper; Copper transport; Corneal dystrophy; Cortical development; Creutzfeldt–Jakob disease; Cysteine transport; Cytochrome< /p>