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Creutzfeldt-jakob disease

Daisy Bougard, Maxime Bélondrade, Charly Mayran, Lilian Bruyère-Ostells, Sylvain Lehmann, Chantal Fournier-Wirth, Richard S Knight, Robert G Will, Alison J E Green
A patient with a heterozygous variant of Creutzfeldt-Jakob disease (CJD) with a methionine/valine genotype at codon 129 of the prion protein gene was recently reported. Using an ultrasensitive and specific protein misfolding cyclic amplification-based assay for detecting variant CJD prions in cerebrospinal fluid, we discriminated this heterozygous case of variant CJD from cases of sporadic CJD.
July 2018: Emerging Infectious Diseases
Germaine Eleanor Torres Herrán, Andrés Damián Ortega Heredia, Braulio Martinez Burbano, Marcos Serrano-Dueñas, María Angélica Ortiz Yepez, Raúl Alberto Barrera Madera, Luis Alfredo Masabanda Campaña, Guillermo David Baño Jiménez, Denny Maritza Santos Saltos, Edgar Patricio Correa Díaz
Following publication of the original article [1], Andrés Damián Ortega Heredia requested that his name be corrected from.
June 12, 2018: BMC Neurology
Aušrine Areškeviciute, Linea Cecilie Melchior, Helle Broholm, Lars-Henrik Krarup, Suzanne Granhøj Lindquist, Peter Johansen, Neil McKenzie, Alison Green, Jørgen Erik Nielsen, Henning Laursen, Eva Løbner Lund
This is the first report of presumed sporadic Creutzfeldt-Jakob disease (sCJD) and Gerstmann-Sträussler-Scheinker disease (GSS) with the prion protein gene c.305C>T mutation (p.P102L) occurring in one family. The father and son were affected with GSS and the mother had a rapidly progressive form of CJD. Diagnosis of genetic, variant, and iatrogenic CJD was ruled out based on the mother's clinical history, genetic tests, and biochemical investigations, all of which supported the diagnosis of sCJD. However, given the low incidence of sCJD and GSS, their co-occurrence in one family is extraordinary and challenging...
June 7, 2018: Journal of Neuropathology and Experimental Neurology
Marc L Turner
There has been concern for several decades around the possibility that prion diseases may be transmissible by blood components and / or plasma products. Whilst the evidence in respect of transmission of sporadic Creutzfeldt-Jakob disease (CJD) is largely circumstantial, the identification of variant CJD gave rise to increased concern due to the evidence of prion accumulation in peripheral lymphoid tissue at the time of clinical disease. A series of studies of appendix tissues in the United Kingdom revealed prion accumulation in around 1 / 2000 of the individuals tested and raised further concern that there may be a significant proportion of the healthy population with subclinical infection posing an increased risk of transmission by substances of human origin (blood, plasma, tissues, organs) and interventional medical and surgical procedures...
2018: Handbook of Clinical Neurology
Fiona Houston, Olivier Andréoletti
Bovine spongiform encephalopathy (BSE) is the only animal prion disease that has been demonstrated to be zoonotic, causing variant Creutzfeldt-Jakob disease (vCJD) in humans. The link between BSE and vCJD was established by careful surveillance, epidemiologic investigations, and experimental studies using in vivo and in vitro models of cross-species transmission. Similar approaches have been used to assess the zoonotic potential of other animal prion diseases, including atypical forms identified through active surveillance...
2018: Handbook of Clinical Neurology
Simon Mead, Fabrizio Tagliavini
Arguably the most important goal of prion research is the discovery of a safe and effective treatment for the human diseases. The final stages of the pathway to develop a treatment require clinical trials. Choices about how a trial is designed and conducted have a large impact on the chances of success. The gold-standard large randomized double-blind placebo-controlled study, which minimizes sources of bias and has been incredibly successful in other diseases, has been hard to achieve in Creutzfeldt-Jakob disease principally because of the rarity and rapidity of the clinical syndrome...
2018: Handbook of Clinical Neurology
Thomas Wisniewski, Fernando Goñi
Currently all prion diseases are without effective treatment and are universally fatal. It is increasingly being recognized that the pathogenesis of many neurodegenerative diseases, such as Alzheimer disease (AD), includes "prion-like" properties. Hence, any effective therapeutic intervention for prion disease could have significant implications for other neurodegenerative diseases. Conversely, therapies that are effective in AD might also be therapeutically beneficial for prion disease. AD-like prion disease has no effective therapy...
2018: Handbook of Clinical Neurology
Corinne Lasmézas, Ruth Gabizon
In this chapter, we describe current therapeutic targets for prion diseases. We focus on targets that have been validated in vitro and in vivo, leaving out a plethora of theoretic targets that still require validation. We also show how the development of improved model systems for the study of prion infection and neurotoxic mechanisms has enabled target identification. Some therapeutic targets are prion-specific, such as PrPTSE , while others are shared by other neurodegenerative diseases, for example, autophagy, cholesterol and energy metabolism, and neuroinflammation...
2018: Handbook of Clinical Neurology
Brian S Appleby, Deborah R Yobs
Prion diseases (e.g., Creutzfeldt-Jakob disease) are rapidly progressive neurodegenerative diseases that are invariably fatal. Diagnosing prion disease can be difficult and can lead to frustration. There is no currently available disease-altering treatment for prion diseases and the care and management of affected patients are directed towards symptomatic relief and quality of life. In this chapter, we highlight the many unique challenges of prion disease and how they affect care and management strategies. Symptomatic treatment follows many of the same principles observed in geriatric and/or hospice care, with some important differences due to disease-specific characteristics...
2018: Handbook of Clinical Neurology
Michael D Geschwind, Katy Murray
Prion diseases are unique in medicine as in humans they occur in sporadic, genetic, and acquired forms. The most common human prion disease is sporadic Creutzfeldt-Jakob disease (CJD), which commonly presents as a rapidly progressive dementia (RPD) with behavioral, cerebellar, extrapyramidal, and some pyramidal features, with the median survival from symptom onset to death of just a few months. Because human prion diseases, as well as other RPDs, are relatively rare, they can be difficult to diagnose, as most clinicians have seen few, if any, cases...
2018: Handbook of Clinical Neurology
Alison J E Green, Gianluigi Zanusso
Protein amplification techniques exploit the ability of PrPTSE to induce a conformational change in prion protein (PrP) in a continuous fashion, so that the small amount of PrPTSE found in tissues and biologic fluids in prion diseases can be amplified to a point where they are detectable by conventional laboratory techniques. The most widely used protein aggregation assays are protein misfolding cyclic amplification assay (PMCA) and real-time quaking-induced conversion (RT-QuIC). These assays have been used extensively in both animal and human prion disease in studies ranging from the development of diagnostics, understanding disease transmission potential, to investigating mechanisms underlying neurodegeneration...
2018: Handbook of Clinical Neurology
Laura Cracco, Brian S Appleby, Pierluigi Gambetti
Fatal familial insomnia (FFI) and sporadic fatal insomnia (sFI), or thalamic form of sporadic Creutzfeldt-Jakob disease MM2 (sCJDMM2T), are prion diseases originally named and characterized in 1992 and 1999, respectively. FFI is genetically determined and linked to a D178N mutation coupled with the M129 genotype in the prion protein gene (PRNP) at chromosome 20. sFI is a phenocopy of FFI and likely its sporadic form. Both diseases are primarily characterized by progressive sleep impairment, disturbances of autonomic nervous system, and motor signs associated with severe loss of nerve cells in medial thalamic nuclei...
2018: Handbook of Clinical Neurology
Bernardino Ghetti, Pedro Piccardo, Gianluigi Zanusso
Among genetically determined neurodegenerative diseases, the dominantly inherited prion protein cerebral amyloidoses are characterized by deposition of amyloid in cerebral parenchyma or blood vessels. Among them, Gerstmann-Sträussler-Scheinker disease has been the first to be described. Their clinical, neuropathologic, and molecular phenotypes are distinct from those observed in Creutzfeldt-Jakob disease (CJD) and related spongiform encephalopathies. It is not understood why specific mutations in the prion protein gene (PRNP) cause cerebral amyloidosis and others cause CJD...
2018: Handbook of Clinical Neurology
Anna Ladogana, Gabor G Kovacs
Genetic Creutzfeldt-Jakob disease (CJD) is associated with mutations in the human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been identified in 10-15% of all CJD patients, who often have a family history of autosomal-dominant pattern of inheritance and variable penetrance. However, the use of genetic tests implemented by surveillance networks all over the world increasingly identifies unexpectedly PRNP mutations in persons apparently presenting with a sporadic form of CJD. A high phenotypic variability was reported in genetic prion diseases, which partly overlap with the features of sporadic CJD...
2018: Handbook of Clinical Neurology
Atsushi Kobayashi, Tetsuyuki Kitamoto, Hidehiro Mizusawa
Iatrogenic transmission of Creutzfeldt-Jakob disease (CJD) has occurred through particular medical procedures. Among them, dura mater grafts and pituitary-derived growth hormone obtained from human cadavers undiagnosed as CJD are the most frequent sources of infection. Recent advances in our knowledge about dura mater graft- and human pituitary-derived growth hormone-associated CJD patients have revealed that the combination of the infected CJD strain and the PRNP genotype of the patient determines their clinical, neuropathologic, and biochemical features...
2018: Handbook of Clinical Neurology
Jean-Philippe Brandel, Richard Knight
Variant CJD (vCJD) was described first in the United Kingdom in 1996. It is a zoonotic form of human prion disease, originating from dietary contamination of human food with material from bovine spongiform encephalopathy (BSE)-affected cattle. It has important epidemiologic, clinical, and neuropathogic differences from other forms of human prion disease. Cases have occurred in several countries but the United Kingdom and France have been most affected. Following the decline in BSE in cattle and the dietary protective measures adopted, vCJD has become an extremely rare disease...
2018: Handbook of Clinical Neurology
Silvio Notari, Brian S Appleby, Pierluigi Gambetti
Variably protease-sensitive prionopathy (VPSPr), originally identified in 2008, was further characterized and renamed in 2010. Thirty-seven cases of VPSPr have been reported to date, consistent with estimated prevalence of 0.7-1.7% of all sporadic prion diseases. The lack of gene mutations establishes VPSPr as a sporadic form of human prion diseases, along with sporadic Creutzfeldt-Jakob disease (sCJD) and sporadic fatal insomnia. Like sCJD, VPSPr affects patients harboring any of the three genotypes, MM, MV, and VV at the prion protein (PrP) gene polymorphic codon 129, with VPSPr VV accounting for 65% of all VPSPr cases...
2018: Handbook of Clinical Neurology
Inga Zerr, Piero Parchi
Sporadic Creutzfeldt-Jakob disease (CJD), the most common human prion disease, is generally regarded as a spontaneous neurodegenerative illness, arising either from a spontaneous PRNP somatic mutation or a stochastic PrP structural change. Alternatively, the possibility of an infection from animals or other source remains to be completely ruled out. Sporadic CJD is clinically characterized by rapidly progressive dementia with ataxia, myoclonus, or other neurologic signs and, neuropathologically, by the presence of aggregates of abnormal prion protein, spongiform change, neuronal loss, and gliosis...
2018: Handbook of Clinical Neurology
Sylvie L Benestad, Glenn C Telling
Chronic wasting disease (CWD) is a relatively new and burgeoning prion epidemic of deer, elk, reindeer, and moose, which are members of the cervid family. While the disease was first described in captive deer, its subsequent discovery in various species of free-ranging animals makes it the only currently recognized prion disorder of both wild and farmed animals. In addition to its expanding range of host species, CWD continues to spread from North America to new geographic areas, including South Korea, and most recently Norway, marking the first time this disease was detected in Europe...
2018: Handbook of Clinical Neurology
Cristina Casalone, James Hope
This chapter describes the prion diseases of cattle, or bovine transmissible spongiform encephalopathies (BoTSEs). "Classic" bovine spongiform encephalopathy (C-BSE), the major prion protein disorder of Bovidae, was first described in 1986. We also describe the spatiotemporal correlation of C-BSE to a novel form of human prion disease, variant Creutzfeldt-Jakob disease (vCJD), which led to the classification of BSE as a zoonotic disease (and the "cause" of vCJD) in 1996. From isolated cases first identified retrospectively in May 1985, a major bovine spongiform encephalopathy (BSE) epidemic peaked within the British Isles in 1991, and has so far led to over 195,000 confirmed cases in cattle, and several thousand more cases within Europe and a few elsewhere...
2018: Handbook of Clinical Neurology
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