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A systemic analysis of Creutzfeldt Jakob disease cases in Asia Prion (IF 2.3) Pub Date : 2024-02-07 Urwah Rasheed, Sana Khan, Minahil Khalid, Aneeqa Noor, Saima Zafar
Creutzfeldt Jakob Disease (CJD) is a rapidly progressive, fatal neurodegenerative disorder, also known as a subacute spongiform encephalopathy. There are three major subtypes of CJD i.e. Sporadic C...
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A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature Prion (IF 2.3) Pub Date : 2024-01-16 Zheng Wang, Yueqi Huang, Shuqi Wang, Jiefang Chen, Gesang Meiduo, Man Jin, Xiaoying Zhang
Fatal familial insomnia (FFI) is a rare autosomal dominant genetic neurodegenerative disease. Generally, FFI patients will develop rapidly progressive dementia, sleep disturbance, autonomic dysfunc...
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Two Chinese patients of sporadic Creutzfeldt–Jacob disease with a S97N mutation in PRNP gene Prion (IF 2.3) Pub Date : 2023-11-14 Dong-Lin Liang, Qi Shi, Kang Xiao, Ruhan A, Wei Zhou, Xiao-Ping Dong
Worldwide, 10–15% human prion disease are genetic and inherited, due to the special mutations or insertions in PRNP gene. Herein, we reported two Chinese patients with rapidly progressive dementia ...
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Serial changes in regional cerebral blood flow in Gerstmann–Sträussler–Scheinker disease caused by a Pro-to-Leu mutation at codon 105 in the prion protein gene Prion (IF 2.3) Pub Date : 2023-09-13 Honami Kawai, Taiki Matsubayashi, Takanori Yokota, Nobuo Sanjo
ABSTRACT Gerstmann–Sträussler–Scheinker disease with a Pro-to-Leu substitution at codon 105 in the prion protein gene (GSS-P105L) is a rare variant of human genetic prion disease. Herein, we report the case of a patient with GSS-P105L, who showed serial changes in regional cerebral blood flow (rCBF) on single-photon emission computed tomography (SPECT). A 42-year-old woman, with an affected father
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Anti-recoverin antibody positive Heidenhain variant CJD: a case report Prion (IF 2.3) Pub Date : 2023-06-19 Chi-Ting Chung, Tun Jao, Jen-Jen Su
ABSTRACT The Heidenhain variant Creutzfeldt-Jakob disease (CJD) is characterized by isolated visual symptoms at disease onset, which may mimic numerous ophthalmological disorders. Anti-recoverin autoantibody can be found in patients with autoimmune-related retinopathies. The presence of this antibody with visual symptoms might be confusing in the early stages of the Heidenhain variant CJD. We describe
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Differentiated cultures of an immortalized human neural progenitor cell line do not replicate prions despite PrPC overexpression Prion (IF 2.3) Pub Date : 2023-05-02 Jessy A. Slota, Xinzhu Wang, Diana Lusansky, Sarah J. Medina, Stephanie A. Booth
ABSTRACT Prions are misfolded proteins that accumulate within the brain in association with a rare group of fatal and infectious neurological disorders in humans and animals. A current challenge to research is a lack of in vitro model systems that are compatible with a wide range of prion strains, reproduce prion toxicity, and are amenable to genetic manipulations. In an attempt to address this need
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Post COVID-19 AA amyloidosis of the kidneys with rapidly progressive renal failure Prion (IF 2.3) Pub Date : 2023-04-13 Tajamul H. Mir, Parvaiz A Zargar, Alok Sharma, Bushra Jabeen, Shephali Sharma, M. Omar Parvaiz, Sabah Bashir, Reem Javeed
ABSTRACT Coronavirus disease 2019 (COVID-19) pandemic has taken the world by a storm, posing a gruelling challenge to the medical fraternity globally. Besides its very high infectivityinfectivity, significant organ dysfunction occurs in critically ill COVID-19 patients, leading to severe morbidity and mortality. Pulmonary involvement is the leading cause of death in these patients to be followed by
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Cerebral cortex swelling in V180I genetic Creutzfeldt–Jakob disease: comparative imaging study between sporadic and V180I genetic Creutzfeldt–Jakob disease in the early stage Prion (IF 2.3) Pub Date : 2023-04-04 Yuki Muroga, Atsuhiko Sugiyama, Hiroki Mukai, Jun Hashiba, Hajime Yokota, Katsuya Satoh, Tetsuyuki Kitamoto, Jiaqi Wang, Shoichi Ito, Satoshi Kuwabara
ABSTRACT The most common genetic Creutzfeldt-Jakob disease (gCJD) in Japan is caused by a point mutation in which isoleucine replaces valine at codon 180 of the prion protein (PrP) gene (V180I gCJD). Evidence suggests that cerebral cortex swelling, which appears as abnormal hyperintensities on diffusion-weighted imaging (DWI), is a characteristic magnetic resonance imaging (MRI) finding of V180I gCJD
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Viruses and amyloids - a vicious liaison Prion (IF 2.3) Pub Date : 2023-03-30 Per Hammarström, Sofie Nyström
ABSTRACT The crosstalk between viral infections, amyloid formation and neurodegeneration has been discussed with varying intensity since the last century. Several viral proteins are known to be amyloidogenic. Post-acute sequalae (PAS) of viral infections is known for several viruses. SARS-CoV-2 and COVID-19 implicate connections between amyloid formation and severe outcomes in the acute infection,
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Estimating sequence diversity of prion protein gene (PRNP) in Portuguese populations of two cervid species: red deer and fallow deer Prion (IF 2.3) Pub Date : 2023-03-21 Jorge C. Pereira, Nuno Gonçalves-Anjo, Leonor Orge, Maria A. Pires, Sara Rocha, Luís Figueira, Ana C. Matos, João Silva, Paula Mendonça, Paulo Carvalho, Paula Tavares, Carla Lima, Anabela Alves, Alexandra Esteves, Maria L. Pinto, Isabel Pires, Adelina Gama, Roberto Sargo, Filipe Silva, Fernanda Seixas, Madalena Vieira-Pinto, Estela Bastos
ABSTRACT Among the transmissible spongiform encephalopathies (TSEs), chronic wasting disease (CWD) in cervids is now a rising concern in wildlife within Europe, after the detection of the first case in Norway in 2016, in a wild reindeer and until June 2022 a total of 34 cases were described in Norway, Sweden and Finland. The definite diagnosis is post-mortem, performed in target areas of the brain
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Expression of the cellular prion protein by mast cells in the human carotid body Prion (IF 2.3) Pub Date : 2023-03-21 Gregory D. Sweetland, Connor Eggleston, Jason C. Bartz, Candace K. Mathiason, Anthony E. Kincaid
ABSTRACT Prion diseases are fatal neurologic disorders that can be transmitted by blood transfusion. The route for neuroinvasion following exposure to infected blood is not known. Carotid bodies (CBs) are specialized chemosensitive structures that detect the concentration of blood gasses and provide feedback for the neural control of respiration. Sensory cells of the CB are highly perfused and densely
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Insight into the conserved structural dynamics of the C-terminus of mammal PrPC identifies structural core and possible structural role of pharmacological chaperones Prion (IF 2.3) Pub Date : 2023-03-09 Patricia Soto, Garrett M. Gloeb, Kaitlin A. Tsuchida, Austin A. Charles, Noah M. Greenwood, Heidi Hendrickson
ABSTRACT Misfolding of the prion protein is central to prion disease aetiology. Although understanding the dynamics of the native fold helps to decipher the conformational conversion mechanism, a complete depiction of distal but coupled prion protein sites common across species is lacking. To fill this gap, we used normal mode analysis and network analysis to examine a collection of prion protein structures
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Polymorphism of prion protein gene (PRNP) in Nigerian sheep Prion (IF 2.3) Pub Date : 2023-03-09 Adeniyi C. Adeola, Semiu F. Bello, Abdussamad M. Abdussamad, Akanbi I. Mark, Oscar J. Sanke, Anyebe B. Onoja, Lotanna M. Nneji, Nasiru Abdullahi, Sunday C. Olaogun, Lawal D. Rogo, Godwin F. Mangbon, Shamsudeen L. Pedro, Manasseh P. Hiinan, Muhammad M. Mukhtar, Jebi Ibrahim, Hayatu Saidu, Philip M. Dawuda, Rukayya K. Bala, Hadiza L. Abdullahi, Adebowale E. Salako, Samia Kdidi, Mohamed Habib Yahyaoui
ABSTRACT Polymorphism of the prion protein gene (PRNP) gene determines an animal’s susceptibility to scrapie. Three polymorphisms at codons 136, 154, and 171 have been linked to classical scrapie susceptibility, although many variants of PRNP have been reported. However, no study has investigated scrapie susceptibility in Nigerian sheep from the drier agro-climate zones. In this study, we aimed to
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A family with mental disorder as the first symptom finally confirmed with Gerstmann–Sträussler–Scheinker disease with P102L mutation in PRNP gene – case report Prion (IF 2.3) Pub Date : 2023-02-22 Zeran Chen, Junjun Guo, Ningjing Ran, Yujia Zhong, Fang Yang, Honghui Sun
ABSTRACT Gerstmann–Sträussler–Scheinker (GSS) disease is an autosomal dominant neurodegenerative disease, and it is characterized by progressive cerebellar ataxia. Up to now, GSS cases with the p.P102L mutation have mainly been reported in Caucasian, but rarely in Asian populations. A 54-year-old female patient presented with an unstable gait in the hospital. Last year, she was unable to walk steadily
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Differential involvement of amyloidogenic evolvability in oligodendropathies; Multiple Sclerosis and Multiple System Atrophy Prion (IF 2.3) Pub Date : 2023-02-13 Jianshe Wei, Gilbert Ho, Eliezer Masliah, Makoto Hashimoto
ABSTRACT Although multiple sclerosis (MS) and multiple system atrophy (MSA) are both characterized by impaired oligodendrocytes (OLs), the aetiological relevance remains obscure. Given inherent stressors affecting OLs, the objective of the present study was to discuss the possible role of amyloidogenic evolvability (aEVO) in these conditions. Hypothetically, in aEVO, protofibrils of amyloidogenic proteins
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Prion2022-pushing the boundaries Prion (IF 2.3) Pub Date : 2023-02-13 Inga Zerr
Published in Prion (Vol. 17, No. 1, 2023)
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Canine detection of chronic wasting disease (CWD) in laboratory and field settings Prion (IF 2.3) Pub Date : 2023-02-05 Amritha Mallikarjun, Ben Swartz, Sarah A. Kane, Michelle Gibison, Isabella Wilson, Amanda Collins, Madison B. Moore, Ila Charendoff, Julie Ellis, Lisa A. Murphy, Tracy Nichols, Cynthia M. Otto
ABSTRACT Chronic wasting disease (CWD) is a fatal transmissible spongiform encephalopathy that affects both free-ranging and farmed cervid species, including mule deer, white-tailed deer, and elk (Odocoileus hemionus, Odocoileus virginianus, and Cervus canadensis). Due to the long incubation period and variability of clinical signs, CWD can expand and spread to new areas before they reach diagnostically
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Sheep scrapie and deer rabies in England prior to 1800 Prion (IF 2.3) Pub Date : 2023-01-18 Anthony Ness, Judd Aiken, Debbie McKenzie
ABSTRACT Eighteenth-century England witnessed the emergence of two neurological diseases in animals. Scrapie, a transmissible spongiform encephalopathy, is a fatal neurodegenerative disease of sheep and goats that appears in classical and atypical forms. Reports of classical scrapie in continental Europe with described symptoms date back to 1750 in what is now western Poland. However, two major outbreaks
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Copper coordination modulates prion conversion and infectivity in mammalian prion proteins Prion (IF 2.3) Pub Date : 2023-01-03 Giuseppe Legname
ABSTRACT In mammals the cellular form of the prion protein (PrPC) is a ubiquitous protein involved in many relevant functions in the central nervous system. In addition to its physiological functions PrPC plays a central role in a group of invariably fatal neurodegenerative disorders collectively called prion diseases. In fact, the protein is a substrate in a process in which it converts into an infectious
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Prion therapeutics: Lessons from the past Prion (IF 2.3) Pub Date : 2022-12-14 Kyu Hwan Shim, Niti Sharma, Seong Soo A An
ABSTRACT Prion diseases are a group of incurable zoonotic neurodegenerative diseases (NDDs) in humans and other animals caused by the prion proteins. The abnormal folding and aggregation of the soluble cellular prion proteins (PrPC) into scrapie isoform (PrPSc) in the Central nervous system (CNS) resulted in brain damage and other neurological symptoms. Different therapeutic approaches, including stalling
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Variability in prion protein genotypes by spatial unit to inform susceptibility to chronic wasting disease Prion (IF 2.3) Pub Date : 2022-09-14 Alberto F. Fameli, Jessie Edson, Jeremiah E. Banfield, Christopher S. Rosenberry, W. David Walter
ABSTRACT Chronic wasting disease (CWD) is a fatal encephalopathy affecting North American cervids. Certain alleles in a host’s prion protein gene are responsible for reduced susceptibility to CWD. We assessed for the first time variability in the prion protein gene of elk (Cervus canadensis) present in Pennsylvania, United States of America, a reintroduced population for which CWD cases have never
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Prion 2022 Conference abstracts: pushing the boundaries Prion (IF 2.3) Pub Date : 2022-09-11 Inga Zerr
Published in Prion (Vol. 16, No. 1, 2022)
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18F-FP-CIT PET/CT in a case of probable sporadic Creutzfeldt-Jakob disease with parkinsonism as initial symptom Prion (IF 2.3) Pub Date : 2022-07-08 Songhan Tang, Xiaofeng Dou, Ying Zhang
ABSTRACT Creutzfeldt-Jakob disease (CJD) is a low-prevalence, fatal neurodegenerative disease. Parkinsonism as first symptom of CJD is rare. We present a case manifesting difficulty falling asleep as unspecific prodromal symptom and parkinsonism as initial symptom. The patient received positron emission tomography/computed tomography (PET/CT) of dopamine transporter (DAT) using 18 F-FP-CIT. The DAT-scan
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Creutzfeldt-Jakob disease after COVID-19: infection-induced prion protein misfolding? A case report Prion (IF 2.3) Pub Date : 2022-07-03 Andrea Bernardini, Gian Luigi Gigli, Francesco Janes, Gaia Pellitteri, Chiara Ciardi, Martina Fabris, Mariarosaria Valente
ABSTRACT Creutzfeldt-Jakob disease (CJD) is a rare, fatal disease presenting with rapidly progressive neurological deficits caused by the accumulation of a misfolded form (PrPSc) of prion protein (PrPc). Coronavirus disease 2019 (COVID-19) is a primarily respiratory syndrome caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2); many diverse neurological complications have been
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Transcriptomic analysis identifies novel potential biomarkers and highlights cilium-related biological processes in the early stages of prion disease in mice Prion (IF 2.3) Pub Date : 2022-07-03 Yong-Chan Kim, Byung-Hoon Jeong
ABSTRACT Prion diseases are fatal and irreversible neurodegenerative diseases induced by the pathogenic form of the prion protein (PrPSc), which is converted from the benign form of the prion protein (PrPC). These diseases are characterized by an extended asymptomatic incubation period accompanied by continuous conversion of PrPC to PrPSc. However, to date, the mechanism governing the conversion to
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Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement Prion (IF 2.3) Pub Date : 2022-06-23 Gianluigi Forloni, Ignazio Roiter, Vladimiro Artuso, Manuel Marcon, Walter Colesso, Elviana Luban, Ugo Lucca, Mauro Tettamanti, Elisabetta Pupillo, Veronica Redaelli, Francesco Mariuzzo, Giulia Boscolo Buleghin, Alice Mariuzzo, Fabrizio Tagliavini, Roberto Chiesa, Anna Ambrosini
ABSTRACT Engaging patients as partners in biomedical research has gradually gained consensus over the last two decades. They provide a different perspective on health priorities and help to improve design and outcomes of clinical studies. This paper describes the relationship established between scientists and members of a large family at genetic risk of very rare lethal disease, fatal familial insomnia
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Cellular prion protein distribution in the vomeronasal organ, parotid, and scent glands of white-tailed deer and mule deer Prion (IF 2.3) Pub Date : 2022-05-29 Anthony Ness, Aradhana Jacob, Kelsey Saboraki, Alicia Otero, Danielle Gushue, Diana Martinez Moreno, Melanie de Peña, Xinli Tang, Judd Aiken, Susan Lingle, Debbie McKenzie
ABSTRACT Chronic wasting disease (CWD) is a contagious and fatal transmissible spongiform encephalopathy affecting species of the cervidae family. CWD has an expanding geographic range and complex, poorly understood transmission mechanics. CWD is disproportionately prevalent in wild male mule deer and male white-tailed deer. Sex and species influences on CWD prevalence have been hypothesized to be
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Difference of geographic distributions of the Chinese patients with prion diseases in the permanent resident places and referring places Prion (IF 2.3) Pub Date : 2022-05-30 Kang Xiao, Ming-Fan Pang, Yue-Qiao Zhao, Li-Ping Gao, Yue-Zhang Wu, Yuan Wang, Qi Shi, Xiao-Ping Dong
ABSTRACT Human prion diseases (PrDs) are a group of transmissible neurodegenerative diseases that can be clarified as sporadic, genetic and iatrogenic forms. In this study, we have analysed the time and geographic distributions of 2011 PrD cases diagnosed by China National Surveillance for Creutzfeldt-Jakob disease (CNS-CJD) since 2006, including 1792 sporadic CJD (sCJD) cases and 219 gPrD cases. Apparently
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Developing neuropalliative care for sporadic Creutzfeldt-Jakob Disease Prion (IF 2.3) Pub Date : 2022-03-03 Krista L. Harrison, Sarah B. Garrett, Joni Gilissen, Michael J. Terranova, Alissa Bernstein Sideman, Christine S. Ritchie, Michael D. Geschwind
ABSTRACT We aimed to identify targets for neuropalliative care interventions in sporadic Creutzfeldt-Jakob disease by examining characteristics of patients and sources of distress and support among former caregivers. We identified caregivers of decedents with sporadic Creutzfeldt-Jakob disease from the University of California San Francisco Rapidly Progressive Dementia research database. We purposively
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Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases Prion (IF 2.3) Pub Date : 2022-02-15 Ilaria Gandoglia, Laura Strada, Anna Poleggi, Antonio Castaldi, Massimo Del Sette, Emilio Di Maria
ABSTRACT Creutzfeldt-Jakob disease (CJD) is usually sporadic, but 10–15% of cases are caused by autosomal-dominant pathogenic variants in the prion protein gene (PRNP). A few PRNP variants show low penetrance. We report the case of a 64-year-old man, admitted to the ward with acute onset of aphasia; death occurred 6 weeks later. Brain MRI, EEG pattern and brain pathology were consistent with CJD diagnosis
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Creutzfeldt–Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature Prion (IF 2.3) Pub Date : 2022-02-07 Yuheng Shan, Jiatang Zhang, Yuying Cen, Xiaojiao Xu, Ruishu Tan, Jiahua Zhao, Shengyuan Yu
ABSTRACT Genetic Creutzfeldt–Jakob disease (gCJD) is a prion disease caused by mutations in the prion protein gene (PRNP). It has an autosomal dominant inheritance, so gCJD with homozygous mutations is extremely rare, and the influence of homozygous mutations on the gCJD phenotype is unknown. We describe the clinical and laboratory features of a patient with a PRNP T188K homozygous mutation and perform
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The first non-prion pathogen identified: neurotropic influenza virus Prion (IF 2.3) Pub Date : 2022-01-03 Suehiro Sakaguchi, Hideyuki Hara
ABSTRACT The cellular isoform of prion protein, designated PrPC, is a membrane glycoprotein expressed most abundantly in the brain, particularly by neurons, and its conformational conversion into the abnormally folded, amyloidogenic isoform, PrPSc, is an underlying mechanism in the pathogenesis of prion diseases, a group of neurodegenerative disorders in humans and animals. Most cases of these diseases
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A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom Prion (IF 2.3) Pub Date : 2021-12-29 Tomoyuki Nagata, Shunichiro Shinagawa, Nobuyuki Kobayashi, Kazuhiro Kondo, Masahiro Shigeta
ABSTRACT An 84-year-old woman who had been diagnosed as having dementia with Lewy body (DLB) upon initial examination exhibited cognitive impairments and person delusional misidentification (DMS): she transiently claimed that her spouse was a stranger. She was re-examined at the age of 89 years; her frequency of speech and activities of daily living had both decreased, leading to verbal communication
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Detection of two dissimilar chronic wasting disease isolates in two captive Rocky Mountain elk (Cervus canadensis) herds Prion (IF 2.3) Pub Date : 2021-12-16 Tracy A. Nichols, Eric M. Nicholson, Yihui Liu, Wanyun Tao, Terry R. Spraker, Michael Lavelle, Justin Fischer, Qingzhong Kong, Kurt C. VerCauteren
ABSTRACT Chronic wasting disease (CWD) continues to spread in both wild and captive cervid herds in North America and has now been identified in wild reindeer and moose in Norway, Finland and Sweden. There is limited knowledge about the variety and characteristics of isolates or strains of CWD that exist in the landscape and their implications on wild and captive cervid herds. In this study, we evaluated
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Prion protein polymorphisms in Michigan white-tailed deer (Odocoileus virginianus) Prion (IF 2.3) Pub Date : 2021-11-09 Caitlin N. Ott-Conn, Julie A. Blanchong, Wes A. Larson
ABSTRACT Chronic Wasting Disease (CWD), a well-described transmissible spongiform encephalopathy of the Cervidae family, is associated with the aggregation of an abnormal isoform (PrPCWD) of the naturally occurring host prion protein (PrPC). Variations in the PrP gene (PRNP) have been associated with CWD rate of infection and disease progression. We analysed 568 free-ranging white-tailed deer (Odocoileus
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The role of microglia in prion diseases and possible therapeutic targets: a literature review Prion (IF 2.3) Pub Date : 2021-11-09 Ananda Sampaio Lamenha Falcão de Melo, Juliana Louise Dias Lima, Maria Carolina Silva Malta, Natália França Marroquim, Álvaro Rivelli Moreira, Isabelle de Almeida Ladeia, Fabrizio dos Santos Cardoso, Daniel Buzaglo Gonçalves, Bruna Guimarães Dutra, Júlio César Claudino dos Santos
ABSTRACT Creutzfeldt-Jakob disease (CJD) is a rare and fatal condition that leads to progressive neurodegeneration due to gliosis, vacuolation of central nervous system tissue, and loss of neurons. Microglia play a crucial role in maintaining Central Nervous System (CNS) homoeostasis, both in health and disease, through phagocytosis and cytokine production. In the context of CJD, the immunomodulatory
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Epitope-specific anti-PrP antibody toxicity: a comparative in-silico study of human and mouse prion proteins Prion (IF 2.3) Pub Date : 2021-10-10 Utpal Kumar Adhikari, Mourad Tayebi
ABSTRACT Despite having therapeutic potential, anti-PrP antibodies caused a major controversy due to their neurotoxic effects. For instance, treating mice with ICSM antibodies delayed prion disease onset, but both were found to be either toxic or innocuous to neurons by researchers following cross-linking PrPC. In order to elucidate and understand the reasons that led to these contradictory outcomes
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Genetic Creutzfeldt-Jakob disease shows fatal family insomnia phenotype Prion (IF 2.3) Pub Date : 2021-09-05
ABSTRACT We report a case of genetic Creutzfeldt-Jakob disease (gCJD), which has a clinical phenotype that is highly similar to Fatal Family Insomnia (FFI) and has a triad of Wernicke-Korsakoff syndrome (WKs) at the developmental stage of the disease. The 51-year-old male complained of sleep disorder and imbalance who had visited five different hospitals before diagnosed. A neurological examination
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Decoding the role of coiled-coil motifs in human prion-like proteins Prion (IF 2.3) Pub Date : 2021-08-24
ABSTRACT Prions are self-propagating proteins that cause fatal neurodegenerative diseases in humans. However, increasing evidence suggests that eukaryotic cells exploit prion conformational conversion for functional purposes. A recent study delineated a group of twenty prion-like proteins in humans, characterized by the presence of low-complexity glutamine-rich sequences with overlapping coiled-coil
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Differential astrocyte and oligodendrocyte vulnerability in murine Creutzfeldt-Jakob disease Prion (IF 2.3) Pub Date : 2021-07-05 Pol Andrés-Benito, Margarita Carmona, Jean Yves Douet, Hervé Cassard, Olivier Andreoletti, Isidro Ferrer
ABSTRACT Glial vulnerability to prions is assessed in murine Creutzfeldt-Jakob disease (CJD) using the tg340 mouse line expressing four-fold human PrP M129 levels on a mouse PrP null background at different days following intracerebral inoculation of sCJD MM1 brain tissues homogenates. The mRNA expression of several astrocyte markers, including glial fibrillary acidic protein (gfap), aquaporin-4 (aqp4)
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A Chinese patient with the clinical features of Parkinson’s disease contains a single copy of octarepeat deletion in PRNP case report Prion (IF 2.3) Pub Date : 2021-07-05 Qi Shi, Xiao-Jing Shen, Li-Ping Gao, Kang Xiao, Wei Zhou, Yuan Wang, Cao Chen, Xiao-Ping Dong
ABSTRACT Insertion or deletion of single copy of octapeptide repeat (OR) in human PrP protein are considered as polymorphism, while of insertions of more numbers of OR and deletion of two copies of OR are associated with genetic prion diseases. Here, we reported a 58-year-old female patient who displayed clinical manifestations of Parkinson’s disease (PD) but contained deletion mutation of single copy
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Upregulation of brain hepcidin in prion diseases Prion (IF 2.3) Pub Date : 2021-07-05 Suman Chaudhary, Ajay Ashok, Aaron S. Wise, Neil A. Rana, Dallas McDonald, Alexander E. Kritikos, Qingzhong Kong, Neena Singh
ABSTRACT Accumulation of redox-active iron in human sporadic Creutzfeldt-Jakob disease (sCJD) brain tissue and scrapie-infected mouse brains has been demonstrated previously. Here, we explored whether upregulation of local hepcidin secreted within the brain is the underlying cause of iron accumulation and associated toxicity. Using scrapie-infected mouse brains, we demonstrate transcriptional upregulation
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PART and ARTAG tauopathies at a relatively young age as a concomitant finding in sporadic Creutzfeldt-Jakob disease Prion (IF 2.3) Pub Date : 2021-07-05 Kateřina Menšíková, Radoslav Matěj, Eva Parobková, Magdalena Smětáková, Petr Kaňovský
ABSTRACT Interactions between prion protein (PrP) and tau protein have long been discussed, especially in relation to the pathogenesis of neurodegenerative diseases. The presence of tauopathy in the genetic forms of Creutzfeldt-Jakob disease (CJD) brains is not uncommon. Molecular interactions between PrP and tau protein have been demonstrated in animal models; the role is attributed to the structural
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Transcriptomic analysis of zebrafish prion protein mutants supports conserved cross-species function of the cellular prion protein Prion (IF 2.3) Pub Date : 2021-06-18 Niall Mungo Pollock, Patricia Leighton, Gavin Neil, W. Ted Allison
ABSTRACT Cellular Prion Protein (PrPC) is a well-studied protein as the substrate for various progressive untreatable neurodegenerative diseases. Normal functions of PrPC are poorly understood, though recent proteomic and transcriptomic approaches have begun to reveal common themes. We use our compound prp1 and prp2 knockout mutant zebrafish at three days post fertilization to take a transcriptomic
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Creutzfeldt–Jakob disease in pregnancy: the use of modified RT-QuIC to determine infectivity in placental tissues Prion (IF 2.3) Pub Date : 2021-06-16 Collin C. Luk, Candace K. Mathiason, Christina D. Orrù, Gerard H. Jansen, Allison Thiele, Byron Caughey, Valerie L. Sim
ABSTRACT Sporadic Creutzfeldt–Jakob Disease (sCJD) rarely affects women of childbearing age. There is currently no evidence of vertical transmission. Given the biosafety implications of performing Caesarean sections (C-section) in these patients, we used sensitive real-time quaking-induced conversion (RT-QuIC) assays to test for the infectious prion protein (PrPSc) in products of gestation. A 35-year-old
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Human prion disease surveillance in Spain, 1993-2018: an overview Prion (IF 2.3) Pub Date : 2021-06-12 Jesús De Pedro-Cuesta, Javier Almazán-Isla, Laura Tejedor-Romero, María Ruiz-Tovar, Fuencisla Avellanal, Alberto Rábano, Miguel Calero, Fernando J. García López, for the Spanish CJD Surveillance Group
ABSTRACT In Spain, human transmissible spongiform encephalopathies (TSEs) have been undergoing continuous surveillance for over 25 years. In 1995, the system was launched as an EU Concerted Action, with EU surveillance network procedures being incorporated from 2002 onwards. The aim of this report was to describe performance and outcomes of this surveillance system across the period 1993–2018. Neurology
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Long-term preservation of pharyngeal swallowing function in MM2-cortical-type sporadic Creutzfeldt-Jakob disease Prion (IF 2.3) Pub Date : 2021-06-02 Yuichi Hayashi, Kenjiro Kunieda, Takuya Kudo, Akio Kimura, Ichiro Fujishima, Takayoshi Shimohata
ABSTRACT Swallowing function in long-term survivors of Creutzfeldt-Jakob disease (CJD) has not been elucidated. Herein, we report a patient with MM2-cortical-type sporadic CJD (MM2C-type sCJD) with long-term preservation of pharyngeal swallowing function using videofluoroscopic (VF) examination of swallowing. A 55-year-old woman was admitted to hospital because of dyscalculia and memory disturbance
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On the reactive states of astrocytes in prion diseases Prion (IF 2.3) Pub Date : 2021-05-31 Ilia V. Baskakov
ABSTRACT Transformation of astrocytes into reactive states is considered one of the major pathological hallmarks of prion and other neurodegenerative diseases. Recent years witnessed a growing appreciation of the view that reactive astrocytes are intimately involved in chronic neurodegeneration; however, little is known about their role in disease pathogenesis. The current article reviews the progress
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Development of molecular tools for diagnosis of Alzheimer’s disease that are based on detection of amyloidogenic proteins Prion (IF 2.3) Pub Date : 2021-04-29 Konstantin Y. Kulichikhin, Sergei A. Fedotov, Maria S. Rubel, Natalia M. Zalutskaya, Anastasia E. Zobnina, Oksana A. Malikova, Nikolay G. Neznanov, Yury O. Chernoff, Aleksandr A. Rubel
ABSTRACT Alzheimer’s disease (AD) is the most common form of dementia that usually occurs among older people. AD results from neuronal degeneration that leads to the cognitive impairment and death. AD is incurable, typically develops over the course of many years and is accompanied by a loss of functional autonomy, making a patient completely dependent on family members and/or healthcare workers. Critical
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Hypothesis: AA amyloidosis is a factor causing systemic complications after coronavirus disease Prion (IF 2.3) Pub Date : 2021-04-20 Alexey P. Galkin
ABSTRACT The severe course of COVID-19 causes systemic chronic inflammation and thrombosis in a wide variety of organs and tissues. The nature of these inflammations remains a mystery, although they are known to occur against the background of a high level of cytokine production. The high level of cytokines provokes overproduction of the Serum amyloid A (SAA) protein. Moreover, the number of studies
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Monomeric a-synuclein (aS) inhibits amyloidogenesis of human prion protein (hPrP) by forming a stable aS-hPrP hetero-dimer. Prion (IF 2.3) Pub Date : 2021-04-14 Satoshi Yamashita, Yuji O. Kamatari, Ryo Honda, Ayumi Niwa, Hiroyuki Tomiata, Akira Hara, Kazuo Kuwata
ABSTRACT Intermolecular interaction between hPrP and αS was investigated using high-speed atomic force microscopy, dynamic light scattering, and nuclear magnetic resonance. We found that hPrP spontaneously gathered and naturally formed oligomers. Upon addition of monomer αS with a disordered conformation, poly-dispersive property of hPrP was lost, and hetero-dimer formation started quite coherently
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Characterization of the prion protein gene in axis deer (Axis axis) and implications for susceptibility to chronic wasting disease Prion (IF 2.3) Pub Date : 2021-04-09 Matthew J. Buchholz, Emily A. Wright, Blake A. Grisham, Robert D. Bradley, Thomas L. Arsuffi, Warren C. Conway
ABSTRACT Axis deer (Axis axis) occur both in captivity and free-ranging populations in portions of North America, but to-date, no data exist pertaining to the species’ susceptibility to CWD. We sequenced the prion protein gene (PRNP) from axis deer. We then compared axis deer PrPC sequences and amino acid polymorphisms to those of CWD susceptible species. A single PRNP allele with no evidence of intraspecies
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STXBP1 forms amyloid-like aggregates in rat brain and demonstrates amyloid properties in bacterial expression system Prion (IF 2.3) Pub Date : 2021-02-16 A.V. Chirinskaite, V.A. Siniukova, M.E. Velizhanina, J.V. Sopova, T.A. Belashova, S.P. Zadorsky
ABSTRACT Amyloids are the fibrillar protein aggregates with cross-β structure. Traditionally amyloids were associated with pathology, however, nowadays more data is emerging about functional amyloids playing essential roles in cellular processes. We conducted screening for functional amyloids in rat brain. One of the identified proteins was STXBP1 taking part in vesicular transport and neurotransmitter
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The expanding scope of amyloid signalling Prion (IF 2.3) Pub Date : 2021-02-12 Asen Daskalov, Sven J. Saupe
ABSTRACT Formation of higher-order supramolecular complexes has emerged as a common principle underlying activity of a number of immune and regulated cell-death signalling pathways in animals, plants and fungi. Some of these signalosomes employ functional amyloid motifs in their assembly process. The description of such systems in fungi finds its origin in earlier studies on a fungal prion termed [Het-s]
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System degeneration in an MM1-type sporadic Creutzfeldt-Jakob disease case with an unusually prolonged akinetic mutism state Prion (IF 2.3) Pub Date : 2021-01-20 Yasushi Iwasaki, Keiko Mori, Masumi Ito, Yoshinari Kawai, Akio Akagi, Yuichi Riku, Hiroaki Miyahara, Atsushi Kobayashi, Tetsuyuki Kitamoto, Mari Yoshida
ABSTRACT Methionine/methionine type 1 (MM1-type) sporadic Creutzfeldt-Jakob disease (sCJD), known as the ‘classic type,’ shows typical clinicopathological sCJD findings. In general, patients reach an akinetic mutism state within a few months of disease onset and die soon after if supportive therapies are not administered. Here, we describe remarkable neuropathologic observations of MM1-type sCJD in
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Exploration of genetic factors resulting in abnormal disease in cattle experimentally challenged with bovine spongiform encephalopathy Prion (IF 2.3) Pub Date : 2021-01-04 Sandor Dudas, Renee Anderson, Antanas Staskevicus, Gordon Mitchell, James C. Cross, Stefanie Czub
ABSTRACT Since the discovery of bovine spongiform encephalopathy (BSE), researchers have orally challenged cattle with infected brain material to study various aspects of disease pathogenesis. Unlike most other pathogens, oral BSE challenge does not always result in the expected clinical presentation and pathology. In a recent study, steers were challenged orally with BSE and all developed clinical
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On the role of the cellular prion protein in the uptake and signaling of pathological aggregates in neurodegenerative diseases Prion (IF 2.3) Pub Date : 2020-12-19 Giuseppe Legname, Carlo Scialò
ABSTRACT Neurodegenerative disorders are associated with intra- or extra-cellular deposition of aggregates of misfolded insoluble proteins. These deposits composed of tau, amyloid-β or α-synuclein spread from cell to cell, in a prion-like manner. Novel evidence suggests that the circulating soluble oligomeric species of these misfolded proteins could play a major role in pathology, while insoluble
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Involvement of N- and C-terminal region of recombinant cervid prion protein in its reactivity to CWD and atypical BSE prions in real-time quaking-induced conversion reaction in the presence of high concentrations of tissue homogenates Prion (IF 2.3) Pub Date : 2020-12-19 Akio Suzuki, Kazuhei Sawada, Takeshi Yamasaki, Nathaniel D Denkers, Candace K Mathiason, Edward A Hoover, Motohiro Horiuchi
ABSTRACT The real-time quaking-induced conversion (RT-QuIC) reaction is a sensitive and specific method for detecting prions. However, inhibitory factors present in tissue homogenates can easily interfere with this reaction. To identify the RT-QuIC condition under which low levels of chronic wasting disease (CWD) and bovine spongiform encephalopathy (BSE) prions can be detected in the presence of high
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Experimental oral transmission of chronic wasting disease to sika deer (Cervus nippon) Prion (IF 2.3) Pub Date : 2020-12-10 Hyun-Joo Sohn, Gordon Mitchell, Yoon Hee Lee, Hyo Jin Kim, Kyung-Je Park, Antanas Staskevicus, Ines Walther, Andrei Soutyrine, Aru Balachandran
ABSTRACT Chronic wasting disease (CWD) affects a broad array of cervid species and continues to be detected in an expanding geographic range. Initially introduced into the Republic of Korea through the importation of CWD-infected elk (Cervus canadensis), additional cases of CWD were subsequently detected in farmed Korean elk and sika deer (Cervus nippon). Wild and farmed sika deer are found in many
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Search for functional amyloid structures in chicken and fruit fly female reproductive cells Prion (IF 2.3) Pub Date : 2020-12-10 V. A. Siniukova, J. V. Sopova, S. A. Galkina, A. P. Galkin
ABSTRACT We conducted a cytological search for amyloid structures in female reproductive cells of Gallus gallus domesticus and Drosophila melanogaster. We have shown that the amyloid-specific dye, Thioflavin S, but not Congo red, stains some cytoplasmic and even nuclear structures in chicken ovaries. In fruit fly eggs both Thioflavin S and Congo red specifically stain eggshell structures such as micropyle