IF 2.3 3区生物学

Prion Pub Date : 2024-09-16 DOI: 10.1080/19336896.2024.2402225

Anthony E Kincaid,Nathaniel D Denkers,Erin E McNulty,Caitlyn N Kraft,Jason C Bartz,Candace K Mathiason

引用次数: 0

Novel method for classification of prion diseases by detecting PrPres signal patterns from formalin-fixed paraffin-embedded samples 通过检测福尔马林固定石蜡包埋样本中的 PrPres 信号模式对朊病毒疾病进行分类的新方法

IF 2.3 3区生物学

Prion Pub Date : 2024-04-16 DOI: 10.1080/19336896.2024.2337981

Sachiko Koyama, Kaoru Yagita, Hideomi Hamasaki, Hideko Noguchi, Masahiro Shijo, Kosuke Matsuzono, Kei-Ichiro Takase, Keita Kai, Shin-Ichi Aishima, Kyoko Itoh, Toshiharu Ninomiya, Naokazu Sasagasako, Hiroyuki Honda

引用次数: 0

Expression of the cellular prion protein by mast cells in the human carotid body. 颈动脉肥大细胞表达细胞朊蛋白的研究。

IF 2.3 3区生物学

Prion Pub Date : 2023-12-01 DOI: 10.1080/19336896.2023.2193128

Gregory D Sweetland, Connor Eggleston, Jason C Bartz, Candace K Mathiason, Anthony E Kincaid

{"title":"Expression of the cellular prion protein by mast cells in the human carotid body.","authors":"Gregory D Sweetland, Connor Eggleston, Jason C Bartz, Candace K Mathiason, Anthony E Kincaid","doi":"10.1080/19336896.2023.2193128","DOIUrl":"10.1080/19336896.2023.2193128","url":null,"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 innervated by nerves that are synaptically connected to the brainstem and thoracic spinal cord, known to be areas of early prion deposition following oral infection. Given their direct exposure to blood and neural connections to central nervous system (CNS) areas involved in prion neuroinvasion, we sought to determine if there were cells in the human CB that express the cellular prion protein (PrPC), a characteristic that would support CBs serving as a route for prion neuroinvasion. We collected CBs from cadaver donor bodies and determined that mast cells located in the carotid bodies express PrPC and that these cells are in close proximity to blood vessels, nerves, and nerve terminals that are synaptically connected to the brainstem and spinal cord.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"17 1","pages":"67-74"},"PeriodicalIF":2.3,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10038025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9330776","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

A family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report. 1例以精神障碍为首发症状的家庭最终确诊为Gerstmann-Sträussler-Scheinker PRNP基因P102L突变疾病1例。

IF 1.9 3区生物学

Prion Pub Date : 2023-12-01 DOI: 10.1080/19336896.2023.2180255

Zeran Chen, Junjun Guo, Ningjing Ran, Yujia Zhong, Fang Yang, Honghui Sun

{"title":"A family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report.","authors":"Zeran Chen, Junjun Guo, Ningjing Ran, Yujia Zhong, Fang Yang, Honghui Sun","doi":"10.1080/19336896.2023.2180255","DOIUrl":"10.1080/19336896.2023.2180255","url":null,"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 and occasionally choked, could not even walk independently gradually. After taking her medical history, we found that she was misdiagnosed with schizophrenia before the gait problems. The patient's father showed similar symptoms and was diagnosed with brain atrophy at the age of 56, but her daughter showed no similar symptoms at present. On arrival at the Neurology Department, the patient's vital signs and laboratory examinations showed no abnormality. As the proband presented with cerebellar ataxia and had an obvious family history, we were sure that she had hereditary cerebellar ataxia. Then, patient's brain MRI showed an abnormal signal in the right parietal cortex and bilateral small ischaemic lesions in the frontal lobe. A gene panel (including 142 ataxia-related genes) was performed, and a heterozygous mutation PRNP Exon2 c.305C>T p. (Pro102Leu) was identified. Her daughter had the same heterozygous mutation. The patient was diagnosed with GSS with mental disorders as initial symptoms. After 2 months of TCM treatment, the patient's walking instability decreased, and her emotional fluctuations were less than before. In conclusion, we have reported a rare case of GSS in Sichuan, China, and the family with mental disorder as the first symptom was finally confirmed with GSS PRNP P102L mutation.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"17 1","pages":"37-43"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3b/5c/KPRN_17_2180255.PMC9980613.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9387559","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

Two Chinese patients of sporadic Creutzfeldt-Jacob disease with a S97N mutation in PRNP gene. 伴有PRNP基因S97N突变的中国散发性克雅氏病2例。

IF 1.9 3区生物学

Prion Pub Date : 2023-12-01 Epub Date: 2023-11-14 DOI: 10.1080/19336896.2023.2276921

Dong-Lin Liang, Qi Shi, Kang Xiao, Ruhan A, Wei Zhou, Xiao-Ping Dong

引用次数: 0

Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature. 克雅氏病与朊蛋白基因T188K纯合突变相关:一例报告和文献综述

IF 2.3 3区生物学

Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2031719

Yuheng Shan, Jiatang Zhang, Yuying Cen, Xiaojiao Xu, Ruishu Tan, Jiahua Zhao, Shengyuan Yu

{"title":"Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.","authors":"Yuheng Shan, Jiatang Zhang, Yuying Cen, Xiaojiao Xu, Ruishu Tan, Jiahua Zhao, Shengyuan Yu","doi":"10.1080/19336896.2022.2031719","DOIUrl":"https://doi.org/10.1080/19336896.2022.2031719","url":null,"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 a literature review of gCJD cases with PRNP homozygous mutations. The patient was presented with cerebellum symptoms, cognitive decline and visual disturbances. Auxiliary examinations revealed restricted diffusion in magnetic resonance imaging and glucose hypometabolism on 18Fluorodeoxyglucose-positron emission tomography. No periodic sharp wave complexes were detected in electroencephalography, and the cerebrospinal fluid 14-3-3 protein was negative. PRNP sequencing revealed the presence of a homozygous T188K variant. The patient died 15 months after disease onset. A literature review revealed PRNP V203I, E200K and E200D as the only three mutations reported as homozygous in gCJD. To the best of our knowledge, this is the first report of a gCJD patient with a PRNP T188K homozygous mutation. Although the clinical manifestations of our patient were similar to those with PRNP T188K heterozygous mutations, she presented with a slightly earlier onset and had a longer survival time. This is consistent with previous observations from patients with PRNP V203I and E200K homozygous mutations. Further studies are essential to clarify the influence of homozygous mutations on the gCJD phenotype.","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"14-18"},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8824217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39759009","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: 1

Developing neuropalliative care for sporadic Creutzfeldt-Jakob Disease. 发展散发性克雅氏病的神经姑息治疗

IF 1.9 3区生物学

Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2043077

Krista L Harrison, Sarah B Garrett, Joni Gilissen, Michael J Terranova, Alissa Bernstein Sideman, Christine S Ritchie, Michael D Geschwind

{"title":"Developing neuropalliative care for sporadic Creutzfeldt-Jakob Disease.","authors":"Krista L Harrison, Sarah B Garrett, Joni Gilissen, Michael J Terranova, Alissa Bernstein Sideman, Christine S Ritchie, Michael D Geschwind","doi":"10.1080/19336896.2022.2043077","DOIUrl":"10.1080/19336896.2022.2043077","url":null,"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 recruited 12 caregivers for in-depth interviews and extracted associated patient data. We analysed interviews using the constant comparison method and chart data using descriptive statistics. Patients had a median age of 70 (range: 60-86) years and disease duration of 14.5 months (range 4-41 months). Caregivers were interviewed a median of 22 (range 11-39) months after patient death and had a median age of 59 (range 45-73) years. Three major sources of distress included (1) the unique nature of sporadic Creutzfeldt-Jakob disease; (2) clinical care issues such as difficult diagnostic process, lack of expertise in sporadic Creutzfeldt-Jakob disease, gaps in clinical systems, and difficulties with end-of-life care; and (3) caregiving issues, including escalating responsibilities, intensifying stress, declining caregiver well-being, and care needs surpassing resources. Two sources of support were (1) clinical care, including guidance from providers about what to expect and supportive relationships; and (2) caregiving supports, including connection to persons with experience managing Creutzfeldt-Jakob disease, instrumental support, and social/emotional support. The challenges and supports described by caregivers align with neuropalliative approaches and can be used to develop interventions to address needs of persons with sporadic Creutzfeldt-Jakob disease and their caregivers.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"16 1","pages":"23-39"},"PeriodicalIF":1.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42444468","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

Creutzfeldt-Jakob disease after COVID-19: infection-induced prion protein misfolding? A case report. COVID-19后克雅氏病:感染诱导的朊蛋白错误折叠?一份病例报告。

IF 2.3 3区生物学

Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2095185

Andrea Bernardini, Gian Luigi Gigli, Francesco Janes, Gaia Pellitteri, Chiara Ciardi, Martina Fabris, Mariarosaria Valente

{"title":"Creutzfeldt-Jakob disease after COVID-19: infection-induced prion protein misfolding? A case report.","authors":"Andrea Bernardini, Gian Luigi Gigli, Francesco Janes, Gaia Pellitteri, Chiara Ciardi, Martina Fabris, Mariarosaria Valente","doi":"10.1080/19336896.2022.2095185","DOIUrl":"https://doi.org/10.1080/19336896.2022.2095185","url":null,"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 observed after COVID-19. We describe a young patient developing CJD two months after mild COVID-19. Presenting symptoms were visuospatial deficits and ataxia, evolving into a bedridden state with preserved consciousness and diffuse myoclonus. Diagnostic work-up was suggestive of CJD. The early age of onset and the short interval between respiratory and neurological symptoms might suggest a causal relationship: a COVID-19-related neuroinflammatory state may have induced the misfolding and subsequent aggregation of PrPSc. The present case emphasizes the link between neuroinflammation and protein misfolding. Further studies are needed to establish the role of SARS-CoV-2 as an initiator of neurodegeneration.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"16 1","pages":"78-83"},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9255144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10782687","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: 13

Prion therapeutics: Lessons from the past. 朊病毒疗法：过去的教训。

IF 2.3 3区生物学

Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2153551

Kyu Hwan Shim, Niti Sharma, Seong Soo A An

{"title":"Prion therapeutics: Lessons from the past.","authors":"Kyu Hwan Shim, Niti Sharma, Seong Soo A An","doi":"10.1080/19336896.2022.2153551","DOIUrl":"10.1080/19336896.2022.2153551","url":null,"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 PrPC to PrPSc conversion, increasing PrPSc removal, and PrPC stabilization, for which a spectrum of compounds, ranging from organic compounds to antibodies, have been explored. Additionally, a non-PrP targeted drug strategy using serpin inhibitors has been discussed. Despite numerous scaffolds being screened for anti-prion activity in vitro, only a few were effective in vivo and unfortunately, almost none of them proved effective in the clinical studies, most likely due to toxicity and lack of permeability. Recently, encouraging results from a prion-protein monoclonal antibody, PRN100, were presented in the first human trial on CJD patients, which gives a hope for better future for the discovery of other new molecules to treat prion diseases. In this comprehensive review, we have re-visited the history and discussed various classes of anti-prion agents, their structure, mode of action, and toxicity. Understanding pathogenesis would be vital for developing future treatments for prion diseases. Based on the outcomes of existing therapies, new anti-prion agents could be identified/synthesized/designed with reduced toxicity and increased bioavailability, which could probably be effective in treating prion diseases.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"16 1","pages":"265-294"},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9754114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10657281","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: 4

Difference of geographic distributions of the Chinese patients with prion diseases in the permanent resident places and referring places. 中国朊病毒病患者常住地与转诊地的地理分布差异。

IF 2.3 3区生物学

Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2080921

Kang Xiao, Ming-Fan Pang, Yue-Qiao Zhao, Li-Ping Gao, Yue-Zhang Wu, Yuan Wang, Qi Shi, Xiao-Ping Dong

{"title":"Difference of geographic distributions of the Chinese patients with prion diseases in the permanent resident places and referring places.","authors":"Kang Xiao, Ming-Fan Pang, Yue-Qiao Zhao, Li-Ping Gao, Yue-Zhang Wu, Yuan Wang, Qi Shi, Xiao-Ping Dong","doi":"10.1080/19336896.2022.2080921","DOIUrl":"https://doi.org/10.1080/19336896.2022.2080921","url":null,"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, the cases numbers of both sCJD and gPrD increased along with the surveillance years, showing a stepping up every five years. The geographic distributions of the PrDs cases based on the permanent residences were wide, distributing in 30 out of 31 provincial-level administrative divisions in Chinese mainland. However, the case numbers in the provincial level varied largely. The provinces in the eastern part of China had much more cases than those in the western part. Normalized the case numbers with the total population each province revealed higher incidences in six provinces. Further, the resident and referring places of all PrD cases were analysed, illustrating a clear concentrating pattern of referring in the large metropolises. Five provincial-level administrative divisions reported more PrD cases from other provinces than the local ones. Particularly, BJ reported not only more than one-fourth of all PrDs cases in Chinese mainland but also 3.64-fold more PrDs cases from other provinces than its local ones. We believed that good medical resources, well-trained programmes and knowledge of PrDs in the clinicians and the CDC staffs contributed to well-referring PrD cases in those large cities.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"16 1","pages":"58-65"},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10393198","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: 1

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