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Rosenberg's molecular and genetic basis of neurological and psychiatric disease. Volume 2 /

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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...

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Bibliographic Details
Corporate Author: ScienceDirect (Online service)
Other Authors: Rosenberg, Roger N. (Editor), Pascual, Juan M. (Editor)
Format: eBook
Language:English
Published: London, United Kingdom ; San Diego, CA, United States ; Cambridge, MA, United States : Elsevier, Academic Press, an Imprint of Elsevier, [2025]
Edition:Seventh edition.
Subjects:
Nervous system > Diseases > Molecular aspects.
Nervous system > Diseases > Genetic aspects.
Molecular neurobiology.
Neurogenetics.
Genetic disorders.
Genetic Diseases, Inborn
Système nerveux > Maladies > Aspect moléculaire.
Système nerveux > Maladies > Aspect génétique.
Neurobiologie moléculaire.
Neurogénétique.
Maladies génétiques.
Electronic books.
Online Access:Connect to the full text of this electronic book
Table of Contents:
  • Salience network and frontotemporal dementia
  • Clinical syndromes
  • Behavioral-variant frontotemporal dementia
  • Semantic-variant primary progressive aphasia
  • Nonfluent/agrammatic-variant primary progressive aphasia
  • Logopenic variant of primary progressive aphasia
  • Frontotemporal dementia and motor neuron disease
  • Frontotemporal dementia and parkinsonism
  • Other clinical phenotypes
  • Diagnostic criteria
  • Histopathology
  • Tau-positive FTLD (FTLD-TAU)
  • TDP-43-positive FTLD (FTLD-TDP)
  • FUS-positive FTLD (FTLD-FUS)
  • Genetics of frontotemporal dementia
  • Microtubule-associated protein tau
  • Granulin (GRN)
  • Chromosome 9 open reading frame 72 hexanucleotide repeat expansion (C9orf72)
  • Other hereditary forms
  • Treatment in frontotemporal dementia
  • Selective serotonin reuptake inhibitors
  • Atypical antipsychotics
  • Acetylcholinesterase inhibitors and NMDA glutamate receptor antagonists
  • Future treatment
  • Conclusions
  • References
  • 4 The neuronal ceroid-lipofuscinoses (Batten disease)
  • Introduction
  • Historical overview
  • Disease identification
  • Gene identification
  • Evolution of classification
  • Early treatments
  • Mode of inheritance, incidence, and prevalence
  • Natural history
  • Age of onset
  • Disease evolution
  • Molecular genetics
  • CLN1
  • CLN2
  • CLN3
  • CLN4
  • CLN5
  • CLN6
  • CLN7
  • CLN8
  • CLN10
  • CLN11
  • CLN12
  • CLN13
  • CLN14
  • Spectrum of NCL phenotypes
  • Disease mechanisms
  • Human observations
  • Animal models
  • Differential diagnosis and testing
  • Management
  • Standard of care
  • Therapies under investigation
  • Conclusion
  • Acknowledgments
  • References
  • Section II Movement disorders
  • 5 The inherited ataxias
  • Introduction
  • Autosomal dominant ataxias
  • Spinocerebellar ataxia type 1
  • Symptoms and signs
  • Genetics
  • Spinocerebellar ataxia type 2.
  • Spinocerebellar ataxia type 3/Machado-Joseph disease
  • Spinocerebellar ataxia type 5
  • Spinocerebellar ataxia type 6
  • Spinocerebellar ataxia type 7
  • Spinocerebellar ataxia type 8
  • Spinocerebellar ataxia type 10
  • Spinocerebellar ataxia type 12
  • Spinocerebellar ataxia type 13
  • Spinocerebellar ataxia type 14
  • Spinocerebellar ataxia type 15/16
  • Spinocerebellar ataxia type 17
  • Spinocerebellar ataxia type 27B
  • Other spinocerebellar ataxia types (19-50)
  • Dentatorubropallidoluysian atrophy
  • Episodic ataxias
  • Autosomal recessive ataxias
  • Friedreich ataxia
  • Symptoms and signs
  • Genetics
  • RFC1-related ataxia
  • Genetic causes of vitamin E deficiency
  • Ataxia telangiectasia and other DNA repair ataxias
  • Ataxia telangiectasia
  • Ataxia with ocular apraxia type 1
  • Ataxia with ocular apraxia type 2
  • Spinocerebellar ataxia and axonal neuropathy
  • Xeroderma pigmentosum
  • Cockayne syndrome
  • Other recessive ataxias
  • Autosomal recessive spastic ataxia
  • Marinesco-Sjögren syndrome
  • Autosomal recessive cerebellar ataxia types 1 and 2
  • Mitochondrial ataxias
  • Molecular genetics
  • DNA repeat expansions as a common cause of hereditary ataxia
  • General molecular features of polyglutamine repeat ataxias
  • Therapeutic strategies in genetic ataxias
  • References
  • Further reading
  • 6 Friedreich ataxia
  • Clinical features
  • Variant phenotypes
  • Neurophysiological investigations
  • Biochemical investigations
  • Neuroimaging
  • Natural history and prognosis
  • Diagnosis
  • Pathology
  • Neuropathology
  • Heart
  • Other organs
  • Clinical and molecular genetics
  • Gene structure and expression
  • Intronic GAA triplet repeat expansion
  • Frataxin point mutations
  • DNA testing
  • Frataxin function
  • Animal and cellular models
  • Pathogenesis of Friedreich ataxia
  • Therapy
  • Clinical management
  • References.
  • 7 Clinical and molecular findings in Ataxia-Telangiectasia
  • The clinical features of ataxia-telangiectasia
  • The molecular functions of ATM and neuropathological consequences of ATM loss
  • In vitro human model systems of ataxia-telangiectasia neurodegeneration
  • Treatment and prognosis
  • References
  • 8 Dystonia
  • Clinical features
  • Classification
  • Historical overview
  • Prevalence and mode of inheritance
  • Natural history
  • Molecular genetics and disease mechanisms
  • Isolated dystonias
  • DYT-TOR1A: early-onset generalized dystonia
  • Oppenheim dystonia (DYT1)
  • DYT-THAP1: adolescent-onset dystonia with mixed phenotype (DYT6)
  • DYT-GNAL: adult-onset segmental dystonia (DYT25)
  • DYT-ANO3: adult-onset cervical dystonia
  • DYT-KMT2B: childhood-onset dystonia often with mild intellectual disability
  • DYT-HPCA: autosomal recessive torsion dystonia
  • DYT-PRKRA: recessively inherited childhood-onset dystonia
  • DYT-EIF2AK2: dominantly inherited early-onset dystonia
  • DYT-VPS16: mostly dominantly inherited early-onset dystonia
  • DYT-AOPEP: recessively inherited early-onset dystonia
  • Combined dystonias
  • Dystonia combined with parkinsonism
  • Dopa-responsive dystonias
  • Segawa syndrome (DYT/PARK-GCH1, DYT5a) and DYT/PARK-TH (DYT5b)
  • DYT/PARK-ATP1A3: rapid-onset dystonia-parkinsonism (DYT12)
  • DYT/PARK-TAF1: X-linked dystonia-parkinsonism (LUBAG, DYT3)
  • Dystonia combined with myoclonus
  • MYC/DYT-SGCE: myoclonus-dystonia (DYT11)
  • MYC/DYT-KCTD17: Myoclonus-dystonia-like syndrome
  • Dystonia combined with chorea and other movement disorders
  • MxMD-ADCY5: chorea-dystonia-myoclonus syndrome
  • Dystonias combined with additional features beyond movement disorders
  • Genotype-phenotype correlations
  • Pleiotropy
  • Susceptibility genes
  • Differential diagnosis
  • Diagnostic testing
  • Management
  • Acknowledgment
  • References.
  • 9 Huntington's disease
  • Clinical features
  • Historical overview
  • Mode of inheritance and prevalence
  • Natural history
  • Molecular genetics
  • Disease mechanisms
  • Neuropathology
  • Molecular biology
  • Differential diagnosis
  • Testing
  • Management
  • Movement disorders
  • Cognitive issues
  • Psychiatric issues
  • Recent steps toward modification of disease biology
  • References
  • 10 The hereditary spastic paraplegias
  • Introduction
  • Genetic and syndromic classifications
  • Symptoms, signs, and course of uncomplicated hereditary spastic paraplegia
  • Gait analysis in hereditary spastic paraplegia
  • Hereditary spastic paraplegia diagnosis
  • Apparently sporadic spastic paraplegia versus hereditary spastic paraplegia
  • Complicated hereditary spastic paraplegia
  • Clinical variability and genotype-phenotype correlation
  • Hereditary spastic paraplegia clinical syndromes: six common patterns
  • Genetic pleiotropy and the occurrence of hereditary spastic paraplegia gene mutations in nonhereditary spastic paraplegia d...
  • Emerging gene therapy for hereditary spastic paraplegia
  • Prognosis
  • Neuropathology
  • Molecular basis of hereditary spastic paraplegia
  • Conclusions
  • Acknowledgment
  • References
  • Section III Neuro-Oncology
  • 11 Glioblastoma
  • Introduction
  • Disease characteristics
  • Diagnosis/testing
  • Management
  • Current research
  • Clinical features
  • Historical overview
  • Mode of inheritance and prevalence
  • Natural history
  • Age of onset
  • Disease evolution and end-of-life mechanisms
  • Disease variants
  • Molecular genetics
  • Insights from comprehensive molecular analysis of GBM
  • Identification of isocitrate dehydrogenase mutations in the secondary GBM pathway
  • Disease mechanisms
  • GBM cell-of-origin and genetically engineered mouse models
  • Cancer stem cells
  • Patient-derived tumor models
  • Testing.