IF 2.3 3区生物学

Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2021.2017701

Tomoyuki Nagata, Shunichiro Shinagawa, Nobuyuki Kobayashi, Kazuhiro Kondo, Masahiro Shigeta

{"title":"A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom.","authors":"Tomoyuki Nagata, Shunichiro Shinagawa, Nobuyuki Kobayashi, Kazuhiro Kondo, Masahiro Shigeta","doi":"10.1080/19336896.2021.2017701","DOIUrl":"https://doi.org/10.1080/19336896.2021.2017701","url":null,"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 difficulties complicated by sensory aphasia, and brain diffusion-weighted (DW) magnetic resonance imaging (MRI) showed cortical hyperintensities in some areas of both hemispheres. About 4 months later, the DW high-intensity areas were observed to have expanded into diffuse cortical areas. While the clinical features of Creutzfeldt Jakob disease (CJD) (myoclonus; ataxia; parkinsonism; rapidly progressive cognitive impairments; periodic sharp discharges on electroencephalograms) were not observed, a genetic analysis of the prion protein (PRNP) gene, which was performed because of a family history of dementia, revealed a V180I mutation (heterozygosis: valine/isoleucine) suggesting genetic CJD (g-CJD). Her activity progressively decreased, reaching akinetic mutism about 11 months after the re-examination. Finally, she suffered from severe bedsores and died from aspiration pneumonia at the age of 90 years. The present report describes the first case of person DMS as an initial neuropsychiatric symptom for V180I g-CJD; the typical long-term clinical symptoms of CJD were not observed in this patient. The inclusion of person DMS as an initial clinical symptom and the presence of expansive cortical hyperintensity areas may be useful for clinicians attempting to diagnosis V180I g-CJD in patients with elusive symptoms.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10655288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Variability in prion protein genotypes by spatial unit to inform susceptibility to chronic wasting disease. 朊病毒蛋白基因型在空间单位上的变异，为慢性消耗性疾病的易感性提供信息。

IF 2.3 3区生物学

Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2117535

Alberto F Fameli, Jessie Edson, Jeremiah E Banfield, Christopher S Rosenberry, W David Walter

{"title":"Variability in prion protein genotypes by spatial unit to inform susceptibility to chronic wasting disease.","authors":"Alberto F Fameli, Jessie Edson, Jeremiah E Banfield, Christopher S Rosenberry, W David Walter","doi":"10.1080/19336896.2022.2117535","DOIUrl":"https://doi.org/10.1080/19336896.2022.2117535","url":null,"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 been reported. We sequenced the prion protein gene (PRNP) of 565 elk samples collected over 7 years (2014-2020) and found two polymorphic sites (codon 21 and codon 132). The allele associated with reduced susceptibility to CWD is present in the population, and there was no evidence of deviations from Hardy-Weinberg equilibrium in any of our sampling years (p-values between 0.14 and 1), consistent with the lack of selective pressure on the PRNP. The less susceptible genotypes were found in a frequency similar to the ones reported for elk populations in the states of Wyoming and South Dakota before CWD was detected. We calculated the proportion of less susceptible genotypes in each hunt zone in Pennsylvania as a proxy for their vulnerability to the establishment of CWD, and interpolated these results to obtain a surface representing expected proportion of the less susceptible genotypes across the area. Based on this analysis, hunt zones located in the southern part of our study area have a low proportion of less susceptible genotypes, which is discouraging for elk persistence in Pennsylvania given that these hunt zones are adjacent to the deer Disease Management Area 3, where CWD has been present since 2014.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9481152/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10421581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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. PRNP基因V203I变体的外显率:一例卒中样克雅氏病发病患者的报告及已发表病例的回顾

IF 2.3 3区生物学

Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2035479

Ilaria Gandoglia, Laura Strada, Anna Poleggi, Antonio Castaldi, Massimo Del Sette, Emilio Di Maria

引用次数: 1

Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement. 有致死性家族性失眠风险的受试者的预防性药物治疗:科学与公众参与。

IF 2.3 3区生物学

Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2083435

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

{"title":"Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement.","authors":"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","doi":"10.1080/19336896.2022.2083435","DOIUrl":"https://doi.org/10.1080/19336896.2022.2083435","url":null,"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 (FFI). This interaction led to a clinical trial based on the repurposing of doxycycline - an antibiotic with a known safety profile and optimal blood-brain barrier passage - which in numerous preclinical and clinical studies had given evidence of its potential therapeutic effect in neurodegenerative disorders, including prion diseases like FFI. The design of this trial posed several challenges, which were addressed jointly by the scientists and the FFI family. Potential participants excluded the possibility of being informed of their own FFI genotype; thus, the trial design had to include both carriers of the FFI mutation (10 subjects), and non-carriers (15 subjects), who were given placebo. Periodic clinical controls were performed on both groups by blinded examiners. The lack of surrogate outcome measures of treatment efficacy has required to compare the incidence of the disease in the treated group with a historical dataset during 10 years of observation. The trial is expected to end in 2023. Regardless of the clinical outcome, it will provide worthwhile knowledge on the disease. It also offers an important example of public engagement and collaboration to improve the quality of clinical science.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10782235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

18F-FP-CIT PET/CT in a case of probable sporadic Creutzfeldt-Jakob disease with parkinsonism as initial symptom. 18F-FP-CIT PET/CT可能为散发性克雅氏病1例，首发症状为帕金森病。

IF 2.3 3区生物学

Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2093078

Songhan Tang, Xiaofeng Dou, Ying Zhang

引用次数: 1

Prion 2022 Conference abstracts: pushing the boundaries Prion 2022会议摘要：突破界限

IF 2.3 3区生物学

Prion Pub Date : 2022-09-11 DOI: 10.1080/19336896.2022.2091286

Inga Zerr

引用次数: 3

Cellular prion protein distribution in the vomeronasal organ, parotid, and scent glands of white-tailed deer and mule deer 细胞朊病毒蛋白在白尾鹿和骡鹿犁鼻器官、腮腺和气味腺中的分布

IF 2.3 3区生物学

Prion Pub Date : 2022-05-29 DOI: 10.1080/19336896.2022.2079888

A. Ness, Aradhana Jacob, Kelsey Saboraki, Alicia Otero, Danielle Gushue, Diana Martinez Moreno, Melanie de Peña, Xinli Tang, J. Aiken, Susan Lingle, Debbie McKenzie

{"title":"Cellular prion protein distribution in the vomeronasal organ, parotid, and scent glands of white-tailed deer and mule deer","authors":"A. Ness, Aradhana Jacob, Kelsey Saboraki, Alicia Otero, Danielle Gushue, Diana Martinez Moreno, Melanie de Peña, Xinli Tang, J. Aiken, Susan Lingle, Debbie McKenzie","doi":"10.1080/19336896.2022.2079888","DOIUrl":"https://doi.org/10.1080/19336896.2022.2079888","url":null,"abstract":"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 related to animal behaviours that involve deer facial and body exocrine glands. Understanding CWD transmission potential requires a foundational knowledge of the cellular prion protein (PrPC) in glands associated with cervid behaviours. In this study, we characterized the presence and distribution of PrPC in six integumentary and two non-integumentary tissues of hunter-harvested mule deer (Odocoileus hemionus) and white-tailed deer (O. virginianus). We report that white-tailed deer expressed significantly more PrPC than their mule deer in the parotid, metatarsal, and interdigital glands. Females expressed more PrPC than males in the forehead and preorbital glands. The distribution of PrPC within the integumentary exocrine glands of the face and legs were localized to glandular cells, hair follicles, epidermis, and immune cell infiltrates. All tissues examined expressed sufficient quantities of PrPC to serve as possible sites of prion initial infection, propagation, and shedding.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2022-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44287081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

The expanding scope of amyloid signalling. 淀粉样蛋白信号传导范围的扩大。

IF 2.3 3区生物学

Prion Pub Date : 2021-12-01 DOI: 10.1080/19336896.2021.1874791

Asen Daskalov, Sven J Saupe

引用次数: 3

Decoding the role of coiled-coil motifs in human prion-like proteins. 解码盘绕盘绕基序在人类朊病毒样蛋白中的作用。

IF 2.3 3区生物学

Prion Pub Date : 2021-12-01 DOI: 10.1080/19336896.2021.1961569

Molood Behbahanipour, Javier García-Pardo, Salvador Ventura

{"title":"Decoding the role of coiled-coil motifs in human prion-like proteins.","authors":"Molood Behbahanipour, Javier García-Pardo, Salvador Ventura","doi":"10.1080/19336896.2021.1961569","DOIUrl":"10.1080/19336896.2021.1961569","url":null,"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 (CCs) motifs. This is the case of Mediator complex subunit 15 (MED15), which is overexpressed in a wide range of human cancers. Biophysical studies demonstrated that the prion-like domain (PrLD) of MED15 forms homodimers in solution, sustained by CCs interactions. Furthermore, the same coiled-coil (CC) region plays a crucial role in the PrLD structural transition to a transmissible β-sheet amyloid state. In this review, we discuss the role of CCs motifs and their contribution to amyloid transitions in human prion-like domains (PrLDs), while providing a comprehensive overview of six predicted human prion-like proteins involved in transcription, gene expression, or DNA damage response and associated with human disease, whose PrLDs contain or overlap with CCs sequences. Finally, we try to rationalize how these molecular signatures might relate to both their function and involvement in disease.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8386614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39339203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Exploration of genetic factors resulting in abnormal disease in cattle experimentally challenged with bovine spongiform encephalopathy. 探索导致牛海绵状脑病实验挑战牛异常疾病的遗传因素。

IF 2.3 3区生物学

Prion Pub Date : 2021-12-01 DOI: 10.1080/19336896.2020.1869495

Sandor Dudas, Renee Anderson, Antanas Staskevicus, Gordon Mitchell, James C Cross, Stefanie Czub

{"title":"Exploration of genetic factors resulting in abnormal disease in cattle experimentally challenged with bovine spongiform encephalopathy.","authors":"Sandor Dudas, Renee Anderson, Antanas Staskevicus, Gordon Mitchell, James C Cross, Stefanie Czub","doi":"10.1080/19336896.2020.1869495","DOIUrl":"https://doi.org/10.1080/19336896.2020.1869495","url":null,"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 signs and were sacrificed and tested. However, despite a similar incubation and clinical presentation, one of the steers did not have detectable PrPSc in its brain. Samples from this animal were analysed for genetic differences as well as for the presence of in vitro PrPSc seeding activity or infectivity to determine the BSE status of this animal and the potential reasons that it was different. Seeding activity was detected in the brainstem of the abnormal steer but it was approximately one million times less than that found in the normal BSE positive steers. Intra-cranial challenge of bovinized transgenic mice resulted in no transmission of disease. The abnormal steer had different genetic sequences in non-coding regions of the PRNP gene but detection of similar genotypes in Canadian BSE field cases, that showed the expected brain pathology, suggested these differences may not be the primary cause of the abnormal result. Breed composition analysis showed a higher Hereford content in the abnormal steer as well as in two Canadian atypical BSE field cases and several additional abnormal experimental animals. This study could point towards a possible impact of breed composition on BSE pathogenesis.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1869495","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38780289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

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