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Umfang: 1 online resource (518 pages) : , illustrations.

ISBN: 0-444-63953-5 , 0-444-63945-4

Serie: Handbook of clinical neurology ; 153

Anmerkung: Front Cover -- Human prion diseases -- Foreword -- Preface -- Contributors -- Contents -- Chapter 1: Human transmissible spongiform encephalopathies: historic view -- Introduction, including the concept of slow infections -- Kuru and creutzfeldt-jakob disease -- Familial transmissible spongiform encephalopathies -- Familial Creutzfeldt-Jakob disease -- Gerstmann-Sträussler-Scheinker syndrome -- Fatal familial insomnia -- Variant CJD -- Iatrogenic CJD -- TSE transmitted by contaminated neurosurgical instruments and human-derived hormones and tissues -- TSEs transmitted by blood components -- Possible latent vCJD infection in an asymptomatic UK patient with hemophilia -- PrPTSE in appendices of otherwise healthy persons in the UK: possible implications for prevalence of latent vCJD infections -- The unconventional nature of TSE agents: history -- Nosology of human TSEs: comment -- Conclusion -- Disclaimer -- References -- Section I: Pathophysiology of prions -- Chapter 2: The cellular and pathologic prion protein -- BACKGROUND -- PRPC -- PrPC expression and regulation -- PrPC primary structure, sequence motifs, and processing -- Variations and importance of posttranslational modifications in PrPC -- PrPC secondary, tertiary, and quaternary structure -- PrPC function(s) -- The effect of sequence variations on PrPC biochemistry -- PrPTSE -- PrPTSE primary structure and posttranslational modifications -- PrPTSE secondary, tertiary, and quaternary structure -- Sequence variations -- The function of PrPTSE: are protein aggregates toxic to cells? -- Molecular mechanisms of conversion of PrPC to PrPTSE -- A role for cofactors in conversion -- Do biochemical properties of PrPTSE make prion diseases transmissible? -- Acknowledgments -- References -- Chapter 3: Cell biology of prion infection -- Introduction -- General cell models of prion infection. , Brain cell culture -- Established cell lines -- Primary cell culture -- Multicellular three-dimensional cell culture -- Determinants of cellular susceptibility to prion infection -- Expression of PrPC -- Cell-based determinants of susceptibility to prion infection -- Acute prion infection -- Cellular binding and uptake of PrPTSE -- PrPTSE uptake -- PrPTSE trafficking -- PrPTSE degradation -- Acute PrPTSE formation -- Establishment of persistent infection -- Adaptation -- Role of PrPC -- Cell-specific factors -- Persistent prion infection -- Cellular location of PrPTSE formation -- PrPTSE degradation -- Prion spread in cell culture -- Acknowledgments -- References -- Chapter 4: Experimental models of human prion diseases and prion strains -- Prion strain biology -- Prion strain tropism -- Prion strains in natural prion diseases of livestock and cervids -- Prion strains in humans -- Experimental models of human prion disease -- The ``human´´ mouse -- Gene-targeted models -- Conventional transgenic mice -- Common polymorphisms and mutations of human PrP -- Understanding and overcoming the species barrier in acquired diseases -- Modeling intraspecies transmission in humans -- Sporadic diseases -- Modeling inherited/genetic forms of prion disease -- Familial CJD -- Gerstmann-Sträussler-Scheinker disease -- Fatal familial insomnia -- Identification and assessment of therapeutic targets -- Conclusion -- References -- Chapter 5: The role of the immune system in prion infection -- Prions and the prion protein -- Many prion strains accumulate in SLO before neuroinvasion -- Identifying the key cellular and molecular components required for prion accumulation within, and neuroinvasion from, the SLO -- B and T cells -- Follicular dendritic cells -- FDC acquire prions as complement-opsonized complexes -- FDC-independent prion accumulation and neuroinvasion. , The propagation of prions to and within SLO -- Establishing infection within Peyer's patches after oral exposure -- Conventional dendritic cells propagate prions towards FDC in SLO -- Phagocytosis and destruction of prions by macrophages -- Cell-free -- Orally acquired prions accumulate first in the GALT of the upper gastrointestinal tract before spreading most other SLO -- Neuroinvasion -- Effects of inflammation and pathogen co-infection on prion disease pathogenesis -- Effects of host age on prion disease pathogenesis and susceptibility -- Involvement of the immune system in CNS prion pathogenesis -- Concluding remarks -- References -- Section II: Animal prion diseases (clinical, epidemiology, neuropathological, biochemical, biomarker, and genotypes) -- Chapter 6: Classic and atypical scrapie - a genetic perspective -- Introduction -- Genetic studies of scrapie susceptibility -- Association of PRNP amino acid polymorphisms with scrapie susceptibility/resistance -- Category 1: highly susceptible -- Category 2: reduced susceptibility or resistance -- Category 3: neutral -- Other factors and genes -- Conclusions -- References -- Chapter 7: Atypical and classic bovine spongiform encephalopathy -- Introduction -- Clinical signs of BSE -- Epidemiology of BSE -- Classic BSE -- Atypical forms of BSE -- Pathogenesis and genome -- Pathogenesis -- Genome -- Laboratory methods for BSE diagnosis -- Sampling and rapid tests -- Confirmatory tests -- New amplification techniques -- Inactivation of BSE prions and risk assessment -- European surveillance for animal prion diseases -- Current statutory surveillance for TSEs, including BSE -- Types of surveillance and the detection of emerging forms of prion disease -- Targeted surveillance -- Scanning surveillance -- Laboratory testing for BSE -- Conclusion -- Acknowledgments -- References. , Chapter 8: Chronic wasting disease: an evolving prion disease of cervids -- Clinical signs of chronic wasting disease -- Histopathology of CWD -- Pathogenesis of CWD -- Natural transmission -- Experimental transmission -- Transmission to natural hosts -- Transmission to noncervid species -- Transgenic mouse models of CWD -- In vitro amplification of CWD prions -- The role of host genetics in CWD -- Modeling the effects of host genetic variability in transgenic mice -- CWD strains -- Zoonotic potential of CWD -- Concluding remarks -- References -- Section III: Human prion diseases (clinical, epidemiology, neuropathological, biochemical, biomarker, and genotypes) -- Chapter 9: Sporadic Creutzfeldt-Jakob disease -- Introduction -- Epidemiology -- Genetic aspects -- Clinical features -- Early stage -- Disease evolution -- Advanced stages -- Neuropathologic features -- PrPTSE depositions -- Microglial activation -- Spongiform change -- Synaptic loss -- Neuronal loss and astrocytic gliosis -- Amyloid plaques -- Secondary tauopathy -- Subtypes of sCJD and their distinctive clinicopathologic features -- General features -- Common subtypes -- MM(V)1 -- VV2 -- MV2K -- Rare subtypes -- VV1 -- MM2T -- MM2C -- p-MM1 -- sCJD types with ``mixed´´ molecular and pathologic features -- Type MM(V)1 + 2C -- Type VV2+1 -- Other subtypes -- Molecular basis of phenotypic variability and prion strains -- Clinical diagnostic investigations -- Electroencephalogram (EEG) -- Magnetic resonance imaging -- Cerebrospinal fluid analysis -- Routine CSF parameters -- Surrogate markers: 14-3-3, tau and other proteins -- PrP-amyloid aggregation assays (RT-QuIC) -- Clinical diagnosis -- Conclusions -- References -- Chapter 10: Variably protease-sensitive prionopathy -- Introduction -- Epidemiology -- Definition -- Clinical features -- Demographics -- Clinical course -- Clinical tests. , Diagnostic workup -- Electroencephalogram (EEG) -- Cerebrospinal fluid -- Neuroimaging -- Differential diagnosis -- Neuropathology -- Disease-associated prion protein -- Experimental transmission and in vitro amplification -- Experimental transmission -- In vitro amplification -- Animal models -- Considerations on etiology and pathogenesis -- References -- Chapter 11: Variant Creutzfeldt-Jakob disease -- Epidemiolog aspects -- From bovine spongiform encephalopathy to new variant of Creutzfeldt-Jakob disease -- Increasing primary cases of vCJD in the United Kingdom and in other countries -- Blood-contaminated cases of vCJD, asymptomatic cases, and healthy carriers -- Pathologic aspects -- Peripheral localization of PrPTSE -- Neuropathology -- Clinical features -- General description -- Age -- Sex -- Duration -- General illness profile -- Psychiatric features -- Pain/sensory features -- Cerebellar features -- Involuntary movements -- Cognitive impairment -- Other features -- Diagnosis -- General approach -- Suspicion of the diagnosis -- Tests to exclude other possibilities -- Tests to support the diagnosis -- Absolute confirmation of diagnosis -- Cerebral MR -- CSF examination -- Blood tests -- Urine tests -- Tonsil biopsy -- Nasal brushing -- EEG -- Treatment and management -- Specific treatment -- General management -- Conclusions -- References -- Chapter 12: Iatrogenic Creutzfeldt-Jakob disease -- Introduction and brief history -- Clinical features -- Dura mater graft-associated CJD (dCJD) -- Human pituitary-derived growth hormone-associated CJD (hGH CJD) -- Neuropathologic features -- dCJD -- hGH CJD -- Biochemical features -- dCJD -- hGH CJD -- Biomarkers -- Genotype -- dCJD -- hGH CJD -- Concluding remarks -- Acknowledgments -- References -- Chapter 13: Genetic Creutzfeldt-Jakob disease -- Introduction. , Surveillance, diagnostic approach, and pathogenesis.

Sprache: Englisch