Rosenberg's molecular and genetic basis of neurological and psychiatric disease. Volume 1 /
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 n...
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| Format: | eBook |
| Language: | English |
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London, United Kingdom ; San Diego, CA, United States ; Cambridge, MA, United States :
Elsevier, Academic Press, an Imprint of Elsevier,
[2025]
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| Edition: | Seventh edition. |
| Subjects: | |
| Online Access: | Connect to the full text of this electronic book |
Table of Contents:
- Front Cover
- Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
- Copyright Page
- The editors
- Dedication
- Contents
- List of Contributors
- About the editors
- Foreword for the sixth edition
- Prologue for the sixth edition
- Introduction to the seventh edition
- I. General concepts and tools
- 1 Mendelian, non-Mendelian, multigenic inheritance, and epigenetics
- Introduction
- Mendelian traits
- Mendel's laws
- Chromosomes and genes
- Mendelian inheritance
- Molecular pathomechanisms of pathogenic variants
- Locus and allelic heterogeneity
- Factors that modify classic Mendelian inheritance patterns
- New mutations, mosaicism, and somatic mutations
- Penetrance and expressivity
- Repeat expansion disorders
- Non-Mendelian inheritance
- Mitochondrial inheritance
- Imprinting
- Uniparental disomy
- Chromosomal and genomic disorders
- Aneuploidy
- Isochromosomes
- Translocations
- Intrachromosomal rearrangements
- Mechanisms for formation of chromosomal rearrangements
- Nonallelic homologous recombination
- Nonhomologous end-joining
- Fork stalling and template switching/microhomology-mediated break-induced replication
- How chromosomal rearrangements confer phenotypes
- Multigenic inheritance
- Multilocus pathogenic variation
- Modifier genes
- Mutational burden
- Complex traits
- Genetic features of complex traits
- Genetic variation and complex traits
- Examples of susceptibility genes for complex traits
- Epigenetics
- DNA methylation and hydroxymethylation
- Histone modifications and higher-order chromatin remodeling
- Noncoding RNA regulation
- Assessing variation in the human genome
- Cytogenetics
- Next-generation sequencing
- Conclusion
- References
- 2 Precision medicine in neurology
- Introduction
- Technologies contributing to precision medicine.
- Metabolomics
- Imaging
- Wearable devices
- Early precision medicine advancements
- Initiation of precision medicine programs in the United States
- Precision medicine results at individualized level (N-of-1)
- Pharmacogenomics
- Incorporation of precision diagnostics with targeted therapy
- Summary
- Acknowledgments
- References
- 3 Epigenomics of neurological disorders
- Introduction
- Types and mechanisms of epigenetic modifications
- DNA modifications
- Histone modifications
- Long noncoding RNA roles in epigenetic changes
- Epigenetic therapeutic strategies in neurological disorders
- Alzheimer's disease
- Modulating DNA methylation levels
- Modulating histone modification
- Long noncoding RNA-based strategies
- BDNF upregulation
- Dravet syndrome
- Fragile X syndrome
- Amyotrophic lateral sclerosis
- Angelman syndrome
- Rett syndrome
- Spinal muscular atrophy
- Conclusions
- References
- 4 What genes can and cannot do
- Conceptual confusions in neurology and genetics
- Genes are malleable
- Biological causation: from and to genes and on to more important levels
- What biological level(s) control the organism?
- The crooked paths between genes and phenotypes
- Abnormalities leading to normality
- The generation of novel biology
- Types of genes based on modifiability
- Are misconceptions harmless?
- Conclusion
- Acknowledgments
- References
- 5 Genotype-phenotype considerations in neurogenetic disease
- Introduction
- Genotype
- Phenotype
- Genotype-phenotype correlation: definition and clinical use
- Penetrance
- Expressivity
- Clinical heterogeneity
- Complex disease and polygenic risk
- Genotype-phenotype considerations for the neurogenetic evaluation
- Conclusions
- Funding
- Conflict of interest
- References
- 6 Immunogenetics of neurological disease
- Introduction.
- Lessons from immunogenetics
- Immune cell states
- Major histocompatibility complex
- Neurodegeneration and the immune system
- Neurologic adverse events from immunotherapy: role of immunogenetics
- Immunosenescence
- Immunogenetics and the future of neurologic disease
- References
- Further reading
- 7 Pharmacogenomic approaches to the treatment of sporadic Alzheimer's disease
- Genetic risk factors and sporadic Alzheimer's disease
- Genetic risk factors, cholinergic dysfunction, and Alzheimer's disease
- APOE4 and cholinomimetic drugs in Alzheimer's disease
- Experimental drugs and their relationship to the APOE4 genotype
- Acetylcholinesterase and butyrylcholinesterase genetic variants in dementia
- Pharmacogenomics of adverse side effects
- Acknowledgments
- References
- 8 Application of mouse genetics to human disease: generation and analysis of mouse models
- Creating mouse models
- CRISPR/Cas9
- Transgenesis
- Gene targeting
- Random mutagenesis
- Phenotypic analysis of mouse models
- Summary
- References
- 9 DNA sequencing and other methods of exonic and genomic analyses
- DNA sequencing technologies
- Application of next-generation sequencing to elucidating Mendelian-trait diseases
- Application of next-generation sequencing to elucidating molecular basis of diseases with Mendelian trait
- Application of next-generation sequencing to discovery of causative genes (positional cloning)
- Search for de novo mutations based on whole-exome sequencing/whole-genome sequencing analyses of trios
- Application of next-generation sequencing to elucidating molecular basis of complex-trait diseases
- Application of next-generation sequencing to clinical sequencing
- Other methods of exonic and genomic analysis
- New technologies for haplotyping
- Detection of low-frequency alleles
- References.
- 10 Association, cause, and causal association. Revision 2: playing the changes
- Considerations
- Learning from infectious disease
- Causal "guidelines" and observational versus experimental designs
- A path forward and artificial intelligence
- The progression of complexity into public health
- References
- 11 Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders
- Introduction
- Part I: development of adeno-associated virus as a central nervous system gene transfer vector
- Overview of adeno-associated virus capsid structure and functions
- Adeno-associated virus capsid engineering for central nervous system gene therapy
- Methods used to engineer adeno-associated virus
- Part II: development of AAV-mediated gene therapy for CNS diseases
- Types of gene therapy
- Expression cassette design elements
- Adeno-associated virus applications based on central nervous system disorder categories
- Preclinical safety and efficacy evaluation
- Part III: clinical translation, milestones, and challenges
- Historical context and current landscape of adeno-associated virus-central nervous system gene therapy
- Future challenges to clinical advancement of adeno-associated virus-central nervous system gene therapy
- Conclusion
- Acknowledgments
- References
- 12 Genomics of human neurological disorders
- "-Omics"
- Technology
- Human variation
- Clinical impact of human variation
- Comparative genomics
- Functional genomics
- Noncoding elements
- Single cell transcriptomics
- Applying human genomics to understanding disorders of the nervous system
- References
- 13 CRISPR/Cas9-based genetic engineering for translational research in neurological disorders
- Introduction
- CRISPR and its working mechanisms
- DNA cleavage via conventional CRISPR/Cas9 in neurological disorders.
- The expanding family of CRISPR effectors and toolkits for gene editing
- Base editing in neurological disorders
- CRISPR-mediated transcriptional activation in neurological disorders
- CRISPR-mediated transcriptional repression in neurological disorders
- CRISPR screening and functional genomics for neurological disorders
- RNA editing using CRISPR/Cas 13 for neurological disorders
- Challenges toward a fruitful translation of CRISPR technologies for clinical neurology
- Concluding remarks
- Acknowledgments
- References
- 14 Neural cells derived from pluripotent stem cells and directly induced from somatic cells
- Introduction
- Stem cell-based regenerative therapy of spinal cord injury
- Direct induction of neural stem cells from somatic cells
- Direct induction of neurons from somatic cells
- References
- 15 Neuroimaging in dementia
- Neuroimaging technologies
- Diffusion magnetic resonance imaging
- Task-free functional magnetic resonance imaging
- Arterial spin labeling
- Alzheimer's disease
- Clinical manifestation of Alzheimer's disease
- Pathologies underlying Alzheimer's disease
- Imaging in Alzheimer's disease
- Amyloid imaging
- Fluorodeoxyglucose-positron emission tomography imaging
- Tau imaging
- Magnetic resonance imaging
- Dementia with Lewy bodies
- Clinical manifestation of dementia with Lewy bodies
- Pathologies underlying dementia with Lewy bodies
- Imaging in dementia with Lewy bodies
- Amyloid imaging
- Fluorodeoxyglucose-positron emission tomography
- Magnetic resonance imaging
- Frontotemporal dementia
- Clinical manifestation of frontotemporal dementia
- Pathology underlying frontotemporal dementia
- Imaging in frontotemporal dementia
- Amyloid imaging
- Fluorodeoxyglucose-positron emission tomography and magnetic resonance imaging.