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Exploration of genetic factors resulting in abnormal disease in cattle experimentally challenged with bovine spongiform encephalopathy Prion (IF 1.952) 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 1.952) 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 1.952) 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 1.952) 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 1.952) 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
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RT-QuIC-based detection of alpha-synuclein seeding activity in brains of dementia with Lewy Body patients and of a transgenic mouse model of synucleinopathy. Prion (IF 1.952) Pub Date : 2020-02-12 Jung-Youn Han,Hyung-Sup Jang,Alison J E Green,Young Pyo Choi
RT-QuIC is a shaking-based cyclic amplification technique originally developed in the prion field to detect minute amounts of scrapie prion protein (PrPSc). In this study, we applied the RT-QuIC assay to investigate a-synuclein (a-syn) seeding activity in brains of Dementia with Lewy Body (DLB) patients and in brains of G2-3 transgenic mice expressing human a-syn with A53T mutation. The results show
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Cross-validation of the RT-QuIC assay for the antemortem detection of chronic wasting disease in elk. Prion (IF 1.952) Pub Date : 2020-01-25 N J Haley,R Donner,D M Henderson,J Tennant,E A Hoover,M Manca,B Caughey,N Kondru,S Manne,A Kanthasamay,S Hannaoui,S C Chang,S Gilch,S Smiley,G Mitchell,A D Lehmkuhl,B V Thomsen
Chronic wasting disease is a progressively fatal, horizontally transmissible prion disease affecting several members of the cervid species. Conventional diagnosis relies on ELISA or IHC evaluation using tissues collected post-mortem; however, recent research has focused on newly developed amplification techniques using samples collected antemortem. The present study sought to cross-validate the real-time
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Discovery of a multipotent chaperone, 1-(2,6-Difluorobenzylamino)-3-(1,2,3,4-tetrahydrocarbazol-9-yl)-propan-2-ol with the inhibitory effects on the proliferation of prion, cancer as well as influenza virus. Prion (IF 1.952) Pub Date : 2020-01-24 Satoshi Yamashita,Ryo Honda,Mayuko Fukuoka,Tsutomu Kimura,Junji Hosokawa-Muto,Kazuo Kuwata
We previously discovered three carbazole derivatives, GJP14 (1-piperidinylmethyl-2-(1-oxo-6-methyl-1,2,3,4-tetrahydrocarbazol-9-yl)-ethan-1-ol) with anti-prion activity, GJC29 (benzylamino-3-(1,2,3,4-tetrahydrocarbazol-9-yl)-propan-2-ol) with anti-cancer activity, and THC19 (1-piperidinylmethyl-2-(1,2,3,4-tetrahydrocarnazol-9-yl)-ethan-1-ol) with anti-influenza virus activity. During optimization of
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The cellular prion protein promotes neuronal regeneration after acute nasotoxic injury. Prion (IF 1.952) Pub Date : 2020-01-18 Lindsay E Parrie,Jenna A E Crowell,Julie A Moreno,Stephanie S Suinn,Glenn C Telling,Richard A Bessen
Adult neurogenesis, analogous to early development, is comprised of several, often concomitant, processes including proliferation, differentiation, and formation of synaptic connections. However, due to continual, asynchronous turn-over, newly-born adult olfactory sensory neurons (OSNs) must integrate into existing circuitry. Additionally, OSNs express high levels of cellular prion protein (PrPC),
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RT-QuIC detection of tauopathies using full-length tau substrates Prion (IF 1.952) Pub Date : 2020-11-10 Joanne M. Tennant; Davin M. Henderson; Thomas M. Wisniewski; Edward A. Hoover
ABSTRACT Early detection and diagnosis of neurodegenerative diseases has been hampered by the lack of sensitive testing. Real-time quaking induced conversion (RT-QuIC) has been used for the early and sensitive detection of prion-induced neurologic disease, and has more recently been adapted to detect misfolded alpha-synuclein and tau as biomarkers for neurodegenerative disease. Here we use full-length
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Age structuring and spatial heterogeneity in prion protein gene (PRNP) polymorphism in white-tailed deer Prion (IF 1.952) Pub Date : 2020-10-20 Tyler K. Chafin; Marlis R. Douglas; Bradley T. Martin; Zachery D. Zbinden; Christopher R. Middaugh; Jennifer R. Ballard; M. Cory Gray; Don White Jr; Michael E. Douglas
ABSTRACT Chronic-wasting disease (CWD) is a prion-derived fatal neurodegenerative disease that has affected wild cervid populations on a global scale. Susceptibility has been linked unambiguously to several amino acid variants within the prion protein gene (PRNP). Quantifying their distribution across landscapes can provide critical information for agencies attempting to adaptively manage CWD. Here
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Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype. Prion (IF 1.952) Pub Date : 2020-09-18 Yumeng Huang,Ma Jianfang,Rodrigo Morales,Huidong Tang
Creutzfeldt-Jakob disease (CJD) is a prion disease, usually presented with memory loss, ataxia, dementia, myoclonus, involuntary movements and psychiatric problems. D178N-homozygous 129M genotype has been recognized in the diagnosis of fatal familial insomnia (FFI) globally. Here we report a patient presented with progressive left upper limb stiffness, bradykinesia, hypomimia and weight loss (10 kg)
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A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset. Prion (IF 1.952) Pub Date : 2020-09-17 Taichi Nomura,Ikuko Iwata,Ryoji Naganuma,Masaaki Matsushima,Katsuya Satoh,Tetsuyuki Kitamoto,Ichiro Yabe
Genetic Creutzfeldt-Jakob disease (gCJD) with a mutation in codon 180 of the prion protein gene (V180I gCJD) is the most common form of gCJD in Japan, but only a few cases have been reported in Europe and the United States. It is clinically characterized by occurring in the elderly and presenting as slowly progressive dementia, although it generally shows less cerebellar and pyramidal symptoms than
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Association of chronic wasting disease susceptibility with prion protein variation in white-tailed deer (Odocoileus virginianus). Prion (IF 1.952) Pub Date : 2020-08-23 Yasuko Ishida,Ting Tian,Adam L Brandt,Amy C Kelly,Paul Shelton,Alfred L Roca,Jan Novakofski,Nohra E Mateus-Pinilla
ABSTRACT Chronic wasting disease (CWD) is caused by prions, infectious proteinaceous particles, PrPCWD. We sequenced the PRNP gene of 2,899 white-tailed deer (WTD) from Illinois and southern Wisconsin, finding 38 haplotypes. Haplotypes A, B, D, E, G and 9 others encoded Q95G96S100N103A123Q226, designated ‘PrP variant A.’ Haplotype C and 4 other haplotypes encoded PrP ‘variant C’ (Q95S96S100N103A123Q226)
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Correction Prion (IF 1.952) Pub Date : 2020-08-19
(2020). Correction. Prion: Vol. 14, No. 1, pp. 206-206.
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Focal sharp waves are a specific early-stage marker of the MM2-cortical form of sporadic Creutzfeldt-Jakob disease. Prion (IF 1.952) Pub Date : 2020-08-13 Taiki Matsubayashi,Miho Akaza,Yuichi Hayashi,Tsuyoshi Hamaguchi,Masahito Yamada,Takayoshi Shimohata,Takanori Yokota,Nobuo Sanjo
ABSTRACT Periodic sharp wave complexes (PSWCs), identified using electroencephalography, are observed in less than half of patients with the methionine homozygosity type 2 cortical (MM2c) form of sporadic Creutzfeldt-Jakob disease (sCJD), and only at a later stage of the disease. In this study, we identified early and specific markers on the electroencephalograms (EEGs) of patients with MM2c-sCJD.
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Methionine oxidation within the prion protein. Prion (IF 1.952) Pub Date : 2020-08-02 John Bettinger,Sina Ghaemmaghami
ABSTRACT Prion diseases are characterized by the self-templated misfolding of the cellular prion protein (PrPC) into infectious aggregates (PrPSc). The detailed molecular basis of the misfolding and aggregation of PrPC remains incompletely understood. It is believed that the transient misfolding of PrPC into partially structured intermediates precedes the formation of insoluble protein aggregates and
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Geographic variation in the PRNP gene and its promoter, and their relationship to chronic wasting disease in North American deer. Prion (IF 1.952) Pub Date : 2020-07-26 Robert M Zink,Nadje Najar,Hernán Vázquez-Miranda,Brittaney L Buchanan,Duan Loy,Bruce W Brodersen
ABSTRACT PRNP genotypes, number of octarepeats (PHGGGWGQ) and indels in the PRNP promoter can influence the progression of prion disease in mammals. We found no relationship between presence of promoter indels in white-tailed deer and mule deer from Nebraska and CWD presence. White-tailed deer with the 95 H allele and G20D mule deer were more likely to be CWD-free, but unlike other studies white-tailed
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Serial evaluation of swallowing function in a long-term survivor of V180I genetic Creutzfeldt-Jakob disease. Prion (IF 1.952) Pub Date : 2020-07-05 Kenjiro Kunieda,Yuichi Hayashi,Megumi Yamada,Masahiro Waza,Tomonori Yaguchi,Ichiro Fujishima,Takayoshi Shimohata
ABSTRACT Swallowing function in long-term survivors with Creutzfeldt-Jakob disease (CJD) remains unknown. Herein, we demonstrated serial evaluation of swallowing function in a case with V180I genetic CJD (gCJD) using videofluoroscopic examination of swallowing (VF). A 69-year-old woman was admitted to our hospital because of bradykinesia and memory disturbances 4 months after the onset of symptoms
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Prion domains as a driving force for the assembly of functional nanomaterials. Prion (IF 1.952) Pub Date : 2020-06-28 Weiqiang Wang,Salvador Ventura
ABSTRACT Amyloids display a highly ordered fibrillar structure. Many of these assemblies appear associated with human disease. However, the controllable, stable, tunable, and robust nature of amyloid fibrils can be exploited to build up remarkable nanomaterials with a wide range of applications in biomedicine and biotechnology. Functional prions constitute a particular class of amyloids. These transmissible
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Different post-mortem brain regions from three Chinese FFI patients induce different reactive profiles both in the first and second generation RT-QuIC assays. Prion (IF 1.952) Pub Date : 2020-06-23 Kang Xiao,Qi Shi,Wei Zhou,Xiao-Ping Dong
ABSTRACT Fatal Familial Insomnia (FFI) is one of the most popular genetic prion disease (gPrD) in China. Unlike the other types of human prion diseases, FFI patients show distinctive neuropathological characteristics, such as less deposition of PrPSc, low tissue infectivity and severe neuron losses in some special brain regions. Compared with other gPrDs, the positive reactions of cerebrospinal fluid
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Determination of amyloid core regions of insulin analogues fibrils. Prion (IF 1.952) Pub Date : 2020-06-16 Alexey K Surin,Sergei Yu Grishin,Oxana V Galzitskaya
ABSTRACT A rapid-acting insulin lispro and long-acting insulin glargine are commonly used for the treatment of diabetes. Clinical cases have described the formation of injectable amyloidosis with these insulin analogues, but their amyloid core regions of fibrils were unknown. To reveal these regions, we have analysed the hydrolyzates of insulin fibrils and its analogues using high-performance liquid
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Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature. Prion (IF 1.952) Pub Date : 2020-06-05 Xiping Wu,Zhao Cui,Xie Guomin,Haifeng Wang,Xiaoling Zhang,Zhiguang Li,Qi Sun,Feiteng Qi
ABSTRACT Genetic Creutzfeldt–Jakob disease (gCJD) is characterized by mutations in the PRNP gene and represents approximately 10–15% of the human prion diseases. Here, we report a 42-year-old Chinese man who was diagnosed with gCJD. The patient had a rare mutation in codon 196 (E196A) of PRNP leading to an exchange of amino acid from glutamic acid (E) to alanine (A). The polymorphism of codon 129 in
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Analysis of Chinese patients with sporadic Creutzfeldt-Jakob disease. Prion (IF 1.952) Pub Date : 2020-05-07 Jing Yang,Haiyan Kuang,Qiong Wang,Jiao Liu,Xueping Chen,Huifang Shang
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, incurable, and fatal neurodegenerative disorder. The objective of this study was to describe the clinical features and survival time of Chinese sCJD patients, and to explore the associations between clinical data and survival. In this study, we analysed the clinical data of 21 sCJD patients in a tertiary care hospital and used all Chinese case material
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Understanding Creutzfeldt-Jackob disease from a viewpoint of amyloidogenic evolvability. Prion (IF 1.952) Pub Date : 2020-05-07 Makoto Hashimoto,Gilbert Ho,Yoshiki Takamatsu,Ryoko Wada,Shuei Sugama,Masaaki Waragai,Eliezer Masliah,Takato Takenouchi
Creutzfeldt-Jackob disease (CJD), the most common human prion disorder, is frequently accompanied by ageing-associated neurodegenerative conditions, such as Alzheimer's disease and Parkinson's disease. Although cross-seeding of amyloidogenic proteins (APs), including amyloid β and α-synuclein, may be critical in the co-morbidity of neurodegenerative disorders, the direct interaction of APs with prion
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Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease. Prion (IF 1.952) Pub Date : 2020-03-18 Yuichi Hayashi,Yasushi Iwasaki,Masahiro Waza,Shinei Kato,Akio Akagi,Akio Kimura,Takashi Inuzuka,Katsuya Satoh,Tetsuyuki Kitamoto,Mari Yoshida,Takayoshi Shimohata
The clinical characteristics of genetic Creutzfeldt-Jakob disease (gCJD) with a V180I mutation in the PRNP gene (V180I gCJD) are unique: elderly-onset, gradual progression, sporadic fashion, and cortical oedematous hyper-intensity on diffusion-weighted MRI (DW-MRI). This phenotype may become a potential target of future clinical therapeutic trials. The average disease duration of V180I gCJD patients
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The role of cellular prion protein in lipid metabolism in the liver. Prion (IF 1.952) Pub Date : 2020-03-07 Amandeep Singh Arora,Saima Zafar,Umair Latif,Franc Llorens,Mihm Sabine,Prateek Kumar,Waqas Tahir,Katrin Thüne,Mohsin Shafiq,Matthias Schmitz,Inga Zerr
Cellular prion protein (PrPC) is a plasma membrane glycophosphatidylinositol-anchored protein and it is involved in multiple functions, including neuroprotection and oxidative stress. So far, most of the PrPC functional research is done in neuronal tissue or cell lines; the role of PrPC in non-neuronal tissues such as liver is only poorly understood. To characterize the role of PrPC in the liver, a
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Estimation of amyloid aggregate sizes with semi-denaturing detergent agarose gel electrophoresis and its limitations. Prion (IF 1.952) Pub Date : 2020-04-21 Polina B Drozdova,Yury A Barbitoff,Mikhail V Belousov,Rostislav K Skitchenko,Tatyana M Rogoza,Jeremy Y Leclercq,Andrey V Kajava,Andrew G Matveenko,Galina A Zhouravleva,Stanislav A Bondarev
Semi-denaturing detergent agarose gel electrophoresis (SDD-AGE) was proposed by Vitaly V. Kushnirov in the Michael D. Ter-Avanesyan's laboratory as a method to compare sizes of amyloid aggregates. Currently, this method is widely used for amyloid investigation, but mostly as a qualitative approach. In this work, we assessed the possibilities and limitations of the quantitative analysis of amyloid aggregate
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THERPA v2: an update of a small molecule database related to prion protein regulation and prion disease progression. Prion (IF 1.952) Pub Date : 2019-11-22 Sol Moe Lee,Sung Soon Kim,Heebal Kim,Su Yeon Kim
(2019). THERPA v2: an update of a small molecule database related to prion protein regulation and prion disease progression. Prion: Vol. 13, No. 1, pp. 197-198.
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Combining autophagy stimulators and cellulose ethers for therapy against prion disease. Prion (IF 1.952) Pub Date : 2019-10-03 Basant A Abdulrahman,Waqas Tahir,Katsumi Doh-Ura,Sabine Gilch,Hermann M Schatzl
Prion diseases are fatal transmissible neurodegenerative disorders that affect animals and humans. Prions are proteinaceous infectious particles consisting of a misfolded isoform of the cellular prion protein PrPC, termed PrPSc. PrPSc accumulates in infected neurons due to partial resistance to proteolytic digestion. Using compounds that interfere with the production of PrPSc or enhance its degradation
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Significant enhanced expressions of aquaporin-1, -4 and -9 in the brains of various prion diseases. Prion (IF 1.952) Pub Date : 2019-09-04 Qi Shi,Yue-Zhang Wu,Xuehua Yang,Kang Xiao,Adalaiti Maimaitiming,Li-Ping Gao,Cao Chen,Chen Gao,Yanjun Guo,Xiao-Ping Dong
Aquaporins (AQPs) are widely expressed in various types of tissues, among them AQP1, AQP4 and AQP9 are expressed predominately with relatively special distributing features in various brain regions. The aberrant changes of AQP1 and AQP4 have been observed in the brains of Alzheimer disease (AD). To evaluate the underlying alteration of brain AQPs in prion diseases, scrapie strains of 139A, ME7 and
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Deciphering the BSE-type specific cell and tissue tropisms of atypical (H and L) and classical BSE. Prion (IF 1.952) Pub Date : 2019-09-03 Anne Balkema-Buschmann,Grit Priemer,Reiner Ulrich,Romano Strobelt,Bob Hills,Martin H Groschup
After the discovery of two atypical bovine spongiform encephalopathy (BSE) forms in France and Italy designated H- and L-BSE, the question arose whether these new forms differed from classical BSE (C-BSE) in their pathogenesis. Samples collected from cattle in the clinical stage of BSE during an intracranial challenge study with L- and H-BSE were analysed using biochemical and histological methods
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The worst is yet to come: probable sporadic Creutzfeldt-Jakob disease in a well-controlled HIV patient. Prion (IF 1.952) Pub Date : 2019-08-12 Euripedes Gomes De Carvalho Neto,Matheus Ferreira Gomes,Marina De Oliveira,Maryuris Isabel Niño Guete,Iuri Pereira Santos,Mateus Damiani Monteiro,Fernando Gustavo Stelzer,Fernando Kowacs,Liselotte Menke Barea
We describe a case of probable sporadic Creutzfeldt–Jakob disease in the setting of well-controlled HIV and discuss whether exist, in fact, HIV-related factors that may predispose to the development of prion disease. To the best of our knowledge, this is the third report of this association.
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A case of V180I genetic Creutzfeldt-Jakob disease presenting with conspicuous facial mimicry. Prion (IF 1.952) Pub Date : 2019-08-06 Yasushi Iwasaki,Keiko Mori,Masumi Ito,Yoshinari Kawai
Although there have been no reports of facial mimicry in patients with Creutzfeldt-Jakob disease (CJD), we encountered a patient with genetic CJD with prion protein gene codon 180 mutation (V180I gCJD) who apparently showed this interesting clinical finding. The patient was an 87-year-old Japanese woman, and the first observed CJD symptom was poor spontaneity. She gradually showed cognitive dysfunction
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Sensitivity and specificity evaluation of multiple neurodegenerative proteins for Creutzfeldt-Jakob disease diagnosis using a deep-learning approach. Prion (IF 1.952) Pub Date : 2019-07-15 Sol Moe Lee,Jae Wook Hyeon,Soo-Jin Kim,Heebal Kim,Ran Noh,Seonghan Kim,Yeong Seon Lee,Su Yeon Kim
The diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) can only be confirmed by abnormal protease-resistant prion protein accumulation in post-mortem brain tissue. The relationships between sCJD and cerebrospinal fluid (CSF) proteins such as 14–3-3, tau, and α-synuclein (a-syn) have been investigated for their potential value in pre-mortem diagnosis. Recently, deep-learning (DL) methods have attracted
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Sodium hydroxide treatment effectively inhibits PrPCWD replication in farm soil. Prion (IF 1.952) Pub Date : 2019-07-01 Hyun-Joo Sohn,Kyung-Je Park,In-Soon Roh,Hyo-Jin Kim,Hoo-Chang Park,Hae-Eun Kang
Chronic wasting disease (CWD) agents are shed into biological samples, facilitating their horizontal transmission between cervid species. Once prions enter the environment, binding of PrPCWD by soil particles may maintain them near the soil surface, posing a challenge for decontamination. A 2 N sodium hydroxide (NaOH) or 2% sodium hypochlorite (NaClO) solution is traditionally recommended for prion
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Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report. Prion (IF 1.952) Pub Date : 2019-06-25 Yanyuan Dai,Yue Lang,Mingxuan Ding,Baizhuo Zhang,Xiaoou Han,Guangyu Duan,Li Cui
Genetic Creutzfeldt-Jakob disease (gCJD) accounts for approximately 10–15% of human prion diseases. It is an autosomal dominant disease caused by missense or insertion mutations of the gene that encodes prion protein (PRNP). In general, the manifestations and neuropathological changes of gCJD are similar to those of sporadic CJD (sCJD), and the diagnostic sensitivities of cerebrospinal fluid (CSF)
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Clinicopathological findings of an MM2-cortical-type sporadic Creutzfeldt-Jakob disease patient with cortical blindness during a course of glaucoma and age-related macular degeneration. Prion (IF 1.952) Pub Date : 2019-06-20 Yuichi Hayashi,Yasushi Iwasaki,Masahiro Waza,Hideaki Shibata,Akio Akagi,Akio Kimura,Takashi Inuzuka,Katsuya Satoh,Tetsuyuki Kitamoto,Mari Yoshida,Takayoshi Shimohata
Here, we report an autopsy-verified patient with MM2-coritical-type sporadic Creutzfeldt-Jakob disease (MM2C-type sCJD) presenting cortical blindness during a course of glaucoma and age-related macular degeneration, and focus on the difficulties involved in early clinical diagnosis. An 83-year-old man was admitted to our hospital 15 months after the onset of cortical blindness, and 9 months after the
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Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia. Prion (IF 1.952) Pub Date : 2019-05-23 Runcheng He,Yacen Hu,Lingyan Yao,Yun Tian,Yafang Zhou,Fang Yi,Lin Zhou,Hongwei Xu,Qiying Sun
Background: Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease characterized clinically by severe sleep disorder, motor signs, dysautonomia and abnormal behaviour. FFI is caused by a missense mutation at codon 178 of the prion protein gene (PRNP). Our study is aimed to explore typical clinical and genetic features of two Chinese pedigrees with FFI and review the related
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PRION 2019 emerging concepts Prion (IF 1.952) Pub Date : 2019-05-18
(2019). PRION 2019 emerging concepts. Prion: Vol. 13, PRION 2019 EMERGING CONCEPTS, pp. 1-141.
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Enrichment of miR-126 enhances the effects of endothelial progenitor cell-derived microvesicles on modulating MC3T3-E1 cell function via Erk1/2-Bcl-2 signalling pathway. Prion (IF 1.952) Pub Date : 2019-05-03 Guanghua Chen,Peng Li,Zhijun Liu,Rong Zeng,Xiaotang Ma,Yanfang Chen,Haijia Xu,Zhanghua Li,Hao Lin
Objective: To evaluate whether EPC-MVs could promote bone regeneration by directly regulating osteoblast through miR-126. The underlying mechanisms were also explored. Methods: EPCs were isolated from bone marrow mononuclear cells. EPC-MVs were collected from EPCs cultured medium. The lentivirus was used to induce miR-126 over-expression in EPCs and EPC-MVs. miR-126 expression was detected by qRT-PCR
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Use of faecal volatile organic compound analysis for ante-mortem discrimination between CWD-positive, -negative exposed, and -known negative white-tailed deer (Odocoileus virginianus). Prion (IF 1.952) Pub Date : 2019-04-28 Christine K Ellis,Steven F Volker,Doreen L Griffin,Kurt C VerCauteren,Tracy A Nichols
Chronic wasting disease (CWD) is a naturally occurring infectious, fatal, transmissible spongiform encephalopathy of cervids. Currently, disease confirmation relies on post-mortem detection of infectious prions in the medial retropharyngeal lymph nodes or obex in the brain via immunohistochemistry (IHC). Detection of CWD in living animals using this method is impractical, and IHC and other experimental
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Axonal changes in experimental prion diseases recapitulate those following constriction of postganglionic branches of the superior cervical ganglion: a comparison 40 years later. Prion (IF 1.952) Pub Date : 2019-04-09 Paweł P Liberski
The major neurological feature of prion diseases is a neuronal loss accomplished through either apoptosis or autophagy. In this review, I compared axonal alterations in prion diseases to those described 40 years earlier as a result of nerve ligation. I also demonstrated that autophagic vacuoles and autophagosomes are a major part of dystrophic neurites. Furthermore, I summarized the current status
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The insomnia phenotype in genetic Creutzfeldt-Jakob disease based on the E200K mutation. Prion (IF 1.952) Pub Date : 2019-03-28 Eva Feketeova,Dominika Jarcuskova,Alzbeta Janakova,Marianna Vitkova,Jozef Dragasek,Zuzana Gdovinova
The aim of the presented study was to reveal the frequency of insomnia spells in E200K genetic Creutzfeldt–Jakob disease (gCJD) patients. Clinical records of 22 subjects diagnosed with E200K gCJD were retrospectively reviewed. The patients w/wo insomnia (n = 4, 18%/n = 18, 82%) did not differ in age, sex and the duration of the symptomatic phase. Analysis of the clinical features in the groups yielded
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Spatial heterogeneity of prion gene polymorphisms in an area recently infected by chronic wasting disease. Prion (IF 1.952) Pub Date : 2019-03-19 William L Miller,W David Walter
Genetic variability in the prion protein (Prnp) gene influences host susceptibility to many pathogenic prion diseases. Understanding the distribution of susceptible Prnp variants and determining factors influencing spatial genetic patterns are important components of many chronic wasting disease mitigation strategies. Here, we describe Prnp variability in white-tailed deer (Odocoileus virginianus)
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Prion-dependent proteome remodeling in response to environmental stress is modulated by prion variant and genetic background. Prion (IF 1.952) Pub Date : 2019-03-05 Ben Allwein,Christina Kelly,Shaima Kammoonah,Thibault Mayor,Dale M Cameron
A number of fungal proteins are capable of adopting multiple alternative, self-perpetuating prion conformations. These prion variants are associated with functional alterations of the prion-forming protein and thus the generation of new, heritable traits that can be detrimental or beneficial. Here we sought to determine the extent to which the previously-reported ZnCl2-sensitivity trait of yeast harboring
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The prion 2018 round tables (I): the structure of PrPSc. Prion (IF 1.952) Pub Date : 2019-02-07 Ilia V Baskakov,Byron Caughey,Jesús R Requena,Alejandro M Sevillano,Witold K Surewicz,Holger Wille
Understanding the structure of PrPSc is without doubt a sine qua non to understand not only PrPSc propagation, but also critical features of that process such as the strain phenomenon and transmission barriers. While elucidation of the PrPSc structure has been full of difficulties, we now have a large amount of structural information that allows us to begin to understand it. This commentary article
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The Prion 2018 round tables (II): Aβ, tau, α-synuclein… are they prions, prion-like proteins, or what? Prion (IF 1.952) Pub Date : 2019-01-30 Hasier Eraña
The description of prions as causal agents of Transmissible Spongiform Encephalopathies (TSE), is nowadays accepted as an important breakthrough in biology as revealed the existence of a completely new group of pathogens and a new way of transmission for biological information. A common feature of many neurodegenerative disorders is the presence of protein aggregates in the nervous system and as evidences
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Michael Ter-Avanesyan (1949-2018) - life in science. Prion (IF 1.952) Pub Date : 2019-01-30 Vitaly V Kushnirov
This commentary describes scientific path and accomplishments of our late colleague, Prof. Michael D. Ter-Avanesyan, who made several seminal contributions into prion research.
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Michael Ter-Avanesyan (1949-2018) - Advent of the scientist. Prion (IF 1.952) Pub Date : 2019-01-06 Dmitry A Gordenin,Ludmila N Mironova
This commentary is a tribute to the late colleague, Prof. Michael D. Ter-Avanesyan – prominent contributor into knowledge about prion maintenance and function. The commentary describes his early steps in genetics which brought him into prion research.
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Amyloid properties of the yeast cell wall protein Toh1 and its interaction with prion proteins Rnq1 and Sup35. Prion (IF 1.952) Pub Date : 2018-12-27 A V Sergeeva,J V Sopova,T A Belashova,V A Siniukova,A V Chirinskaite,A P Galkin,S P Zadorsky
Amyloids are non-branching fibrils that are composed of stacked monomers stabilized by intermolecular β-sheets. Some amyloids are associated with incurable diseases, whereas others, functional amyloids, regulate different vital processes. The prevalence and significance of functional amyloids in wildlife are still poorly understood. In recent years, by applying new approach of large-scale proteome
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In vitro generation of tau aggregates conformationally distinct from parent tau seeds of Alzheimer's brain. Prion (IF 1.952) Pub Date : 2018-11-14 Won-Hee Nam,Young Pyo Choi
Normal monomeric tau can be converted into pathogenic aggregates and acquire protease resistance in a prion-like manner. This acquisition of partial protease-resistance in tau aggregates has to date only been partially investigated in various studies exploring the prion-like properties of tau. In this study, we induced the aggregation of tau repeat domain (RD) in cultured cells using detergent insoluble
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An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy. Prion (IF 1.952) Pub Date : 2018-11-14 Yasushi Iwasaki,Rina Hashimoto,Yufuko Saito,Ikuko Aiba,Akira Inukai,Akio Akagi,Maya Mimuro,Hiroaki Miyahara,Tetsuyuki Kitamoto,Mari Yoshida
An 83-year-old Japanese man presented with gait disturbance followed by rapidly-progressive cognitive impairment. Magnetic resonance diffusion-weighted images showed extensive hyperintense regions in the cerebral cortex. Four weeks after symptom onset, myoclonus appeared, and the patient developed difficulty swallowing; intravenous peripheral continuous infusions without vitamin supplementation were
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Specific amyloid-β42 deposition in the brain of a Gerstmann-Sträussler-Scheinker disease patient with a P105L mutation on the prion protein gene. Prion (IF 1.952) Pub Date : 2018-11-13 Fumiko Furukawa,Nobuo Sanjo,Atsushi Kobayashi,Tsuyoshi Hamaguchi,Masahito Yamada,Tetsuyuki Kitamoto,Hidehiro Mizusawa,Takanori Yokota
Although colocalization of amyloid β (Aβ) with prion protein (PrP) in the kuru plaque has previously been observed in the brain of prion diseases patients, the participating Aβ species has not been identified. Here, we present an immunohistochemical assessment of the brain and spinal cord of a 69-year-old Japanese female patient with Gerstmann-Sträussler-Scheinker disease with a P105L mutation on the
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Thermodynamic characterization for the denatured state of bovine prion protein and the BSE Associated variant E211K. Prion (IF 1.952) Pub Date : 2018-10-24 Soyoun Hwang,Eric M Nicholson
Propagation of transmissible spongiform encephalopathies involves the conversion of cellular prion protein, PrPC, into a misfolded oligomeric form, PrPSc. The most common hereditary prion disease is a genetic form of Creutzfeldt-Jakob disease in humans, in which a mutation in the prion gene results in a glutamic acid to lysine substitution at position 200 (E200K) in PrP. In cattle, the analogous amino
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A simple in vitro assay for assessing the efficacy, mechanisms and kinetics of anti-prion fibril compounds. Prion (IF 1.952) Pub Date : 2018-10-09 Carol L Ladner-Keay,Li Ross,Rolando Perez-Pineiro,Lun Zhang,Trent C Bjorndahl,Neil Cashman,David S Wishart
Prion diseases are caused by the conversion of normal cellular prion proteins (PrP) into lethal prion aggregates. These prion aggregates are composed of proteinase K (PK) resistant fibrils and comparatively PK-sensitive oligomers. Currently there are no anti-prion pharmaceuticals available to treat or prevent prion disease. Methods of discovering anti-prion molecules rely primarily on relatively complex
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Combined findings of FDG-PET and arterial spin labeling in sporadic Creutzfeldt-Jakob disease. Prion (IF 1.952) Pub Date : 2018-10-09 Junliang Yuan,Shuangkun Wang,Wenli Hu
Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal progressive neurodegenerative disease. Multimodal approaches, including electroencephalogram, diffusion-weighted imaging (DWI) of brain MRI, and cerebrospinal fluid biomarkers, have been applied to increase the diagnostic accuracy of sCJD. Although previous studies suggested DWI could be the most useful modality for sCJD diagnosis, whether metabolism
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A standard model of Alzheimer's disease? Prion (IF 1.952) Pub Date : 2018-10-09 Lary C Walker,David G Lynn,Yury O Chernoff
The recent Research Framework proposed by the US National Institute on Aging and the Alzheimer’s Association (NIA-AA) recommends that Alzheimer’s disease be defined by its specific biology rather than by non-specific neurodegenerative and syndromal features. By affirming markers of abnormal Aβ and tau proteins as the essential pathobiological signature of Alzheimer’s disease, the Framework tacitly
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Proteolysis: a double-edged sword for the development of amyloidoses. Prion (IF 1.952) Pub Date : 2018-10-02 Atsushi Okamoto,Nao Hosoda,Shin-Ichi Hoshino
The yeast Saccharomyces cerevisiae has proven to be a useful model system to investigate the mechanism of prion generation and inheritance, to which studies in Sup35 made a great contribution. Recent studies demonstrated that ‘protein misfolding and aggregation’ (i.e. amyloidogenesis) is a common principle underlying the pathogenesis of neurodegenerative diseases including prion, amyotrophic lateral
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