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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
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
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
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
David M Asher, Luisa Gregori
The first of several pivotal moments leading to current understanding of human transmissible spongiform encephalopathies (TSEs) occurred in 1959 when veterinary pathologist W.J. Hadlow first recognized several similarities between scrapie-a slow infection of sheep caused by an unusual infectious agent-and kuru, a fatal exotic neurodegenerative disease affecting only people of a single language group in the remote mountainous interior of New Guinea, described two years earlier by D.C. Gajdusek and V. Zigas. Based on the knowledge of scrapie, Gajdusek, C...
2018: Handbook of Clinical Neurology
Brin Freund, John C Probasco, Mackenzie C Cervenka, Raoul Sutter, Peter W Kaplan
Distinguishing treatable causes for rapidly progressive dementia from those that are incurable is vital. Creutzfeldt-Jakob disease (CJD) and voltage-gated potassium channel complex-associated autoimmune encephalitis (VGKC AE) are 2 such conditions with disparate outcomes and response to treatment. To determine the differences in electroencephalography between CJD and VGKC AE, we performed a retrospective review of medical records and examined clinical data, neuroimaging, and electroencephalographs performed in patients admitted for evaluation for rapidly progressive dementia diagnosed with CJD and VGKC AE at the Johns Hopkins Hospital and Bayview Medical Center between January 1, 2007 and December 31, 2015...
May 1, 2018: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
Samir Abu-Rumeileh, Sabina Capellari, Piero Parchi
Rapidly progressive Alzheimer's disease (rpAD) has recently been recognized as a clinical disease subtype characterized by rapidly progressive cognitive decline and/or short disease duration, and the possible occurrence of early focal neurological signs. Consistently, rpAD represents a relatively frequent alternative diagnosis among cases referred as possible or probable Creutzfeldt-Jakob disease (CJD) to surveillance centers for prion disease worldwide. Indeed, the early clinical differential diagnosis between the two disorders can be challenging given the partial overlap in clinical features and cerebrospinal fluid (CSF) levels of the protein surrogate markers 14-3-3 and total-tau...
April 25, 2018: Journal of Alzheimer's Disease: JAD
Keita Miyake, Takashi Hara, Etsuko Oshima, Kiyohiro Kawada, Hideki Ishizu, Yuko Yamauchi, Katsuya Satoh, Tetsuyuki Kitamoto, Shintaro Takenoshita, Seishi Terada, Norihito Yamada
BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease. Common first symptoms are dementia, cerebellar ataxia, visual disturbance, and psychiatric symptoms. Seizure as the first symptom of CJD is a very rare finding. CASE PRESENTATION: We experienced an elderly woman who presented initially with status epilepticus following repeated partial seizures in the course of Alzheimer disease (AD) dementia. Anti-convulsive therapy had no effect...
April 25, 2018: BMC Neurology
Qi Shi, Jian-Le Li, Yue Ma, Li-Ping Gao, Kang Xiao, Jing Wang, Wei Zhou, Cao Chen, Yan-Jun Guo, Xiao-Ping Dong
The levels of ryanodine receptors (RyRs) are usually increased in the brains of human Alzheimer disease (AD) and AD animal models. To evaluate the underlying alteration of brain RyRs in prion disease, scrapie infected cell line SMB-S15 and its infected mice were tested. RyR2 specific Western blots revealed markedly decreased RyR2 levels both in the cells and in the brains of infected mice. Assays of the brain samples of other scrapie (agents 139A and ME7) infected mice collected at different time-points during incubation period showed time-dependent decreases of RyR2...
June 7, 2018: Prion
Hafiz B Mahboob, Kazi H Kaokaf, Jeremy M Gonda
Creutzfeldt-Jakob disease (CJD), the most common form of human prion diseases, is a fatal condition with a mortality rate reaching 85% within one year of clinical presentation. CJD is characterized by rapidly progressive neurological deterioration in combination with typical electroencephalography (EEG) and magnetic resonance imaging (MRI) findings and positive cerebrospinal spinal fluid (CSF) analysis for 14-3-3 proteins. Unfortunately, CJD can have atypical clinical and radiological presentation in approximately 10% of cases, thus making the diagnosis often challenging...
2018: Case Reports in Critical Care
S Chen, S He, X-H Shi, X-J Shen, K-K Liang, J-H Zhao, B-C Yan, J-W Zhang
BACKGROUND AND PURPOSE: Fatal familial insomnia (FFI) is an autosomal dominant disease due to the D178N mutation of PRNP gene coupling with homozygous methionine (Met) at codon 129. It is generally considered that D178N mutation cases with 129 M/M homozygotes present as FFI, and 129 V/V as genetic CJD. However, the frequency of 129 Met alleles in Chinese population is much higher than that in Caucasians. This study aims to investigate the clinical features and genetic characteristics of Chinese D178N mutants in this genetic context...
March 22, 2018: Acta Neurologica Scandinavica
Johannes Eimer, Jan Vesterbacka, Irina Savitcheva, Rayomand Press, Homayoun Roshanisefat, Piotr Nowak
RATIONALE: Cognitive dysfunction is a common presenting symptom in patients with HIV/AIDS. It is usually directly associated with HIV infection or due to opportunistic infection. Rapidly progressive dementia, however, is rarely observed in acute HIV infection or during immune reconstitution. Recently, a case of Creutzfeld-Jakob disease (CJD) has been reported in a patient with chronic HIV infection. The incidence of CJD is not known to be increased among immunocompromised patients. PATIENT CONCERNS: We here report the case of a 59-year-old male patient with a recent diagnosis of HIV/AIDS and Pneumocystis jiroveci pneumonia presenting with secondary behavioral changes and disorientation...
March 2018: Medicine (Baltimore)
Andrew Smith, Sandra Winter, David Lappin, Andrea Sherriff, Ian McIvor, Pamela Philp, Nigel Suttner, Sulisti Holmes, Alan Stewart
BACKGROUND: Currently UK vCJD cases total 178, with an estimated maximum 1:2,000 carriage rate based on archived appendix and tonsil tissue, implying infection maybe rare but carriage relatively common. Previous workers have identified that maintenance of surgical instruments in a humid atmosphere after use and prior to cleaning assists cleaning efficacy. Relatively recently the Department of Health/Advisory Committee on Dangerous Pathogens UK have recommended a surgical instrument cleanliness threshold post cleaning of <5μg protein per instrument side...
March 9, 2018: Journal of Hospital Infection
Richard Salazar
INTRODUCTION: Sporadic Creutzfeldt-Jakob disease is a prion disease characterized by rapidly progressive dementia, ataxia and myoclonus. Atypical phenotype masquerading as stroke, movement disorders or autoimmune encephalitis have been described. Here, I report a probable case of sCJD with an atypical presentation associated with anti-Zic4 antibody and review the literature of neuronal antibodies in CJD. CASE REPORT: A 70 year-old gentleman is admitted with a 2-month history of recurrent stroke-like symptoms associated with behavioral disturbances, gait ataxia and rapidly progressive dementia...
May 2018: Clinical Neurology and Neurosurgery
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