Transcriptomic analysis identifies novel potential biomarkers and highlights cilium-related biological processes in the early stages of prion disease in mice [0.03%]
转录组分析鉴别出潜在的新生物标志物并指出与纤毛相关的生物学过程是小鼠朊病毒病早期发病机制的关键因素
Yong-Chan Kim,Byung-Hoon Jeong
Yong-Chan Kim
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 ex...
Creutzfeldt-Jakob disease after COVID-19: infection-induced prion protein misfolding? A case report [0.03%]
COVID-19后的克雅氏病：感染诱发的朊病毒蛋白误折叠？一例报告
Andrea Bernardini,Gian Luigi Gigli,Francesco Janes et al.
Andrea Bernardini et al.
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 prim...
Case Reports
Prion. 2022 Dec;16(1):78-83. DOI:10.1080/19336896.2022.2095185 2022
Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement [0.03%]
遗传性致命失眠症高危人群的预防性药物治疗：科学与公众参与
Gianluigi Forloni,Ignazio Roiter,Vladimiro Artuso et al.
Gianluigi Forloni et al.
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...
Difference of geographic distributions of the Chinese patients with prion diseases in the permanent resident places and referring places [0.03%]
中国克雅氏病患者登记地与发病前长期居住地地理分布差异分析
Kang Xiao,Ming-Fan Pang,Yue-Qiao Zhao et al.
Kang Xiao et al.
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 dia...
Cellular prion protein distribution in the vomeronasal organ, parotid, and scent glands of white-tailed deer and mule deer [0.03%]
白尾鹿和骡鹿犁鼻器、腮腺和香囊的细胞质普里昂蛋白分布
Anthony Ness,Aradhana Jacob,Kelsey Saboraki et al.
Anthony Ness et al.
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 di...
Krista L Harrison,Sarah B Garrett,Joni Gilissen et al.
Krista L Harrison et al.
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 dece...
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 [0.03%]
PRNP基因V203I变异的外显率：以卒中为起始症状的克雅病患者的报道及既往病例回顾
Ilaria Gandoglia,Laura Strada,Anna Poleggi et al.
Ilaria Gandoglia et al.
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...
Case Reports
Prion. 2022 Dec;16(1):19-22. DOI:10.1080/19336896.2022.2035479 2022
Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature [0.03%]
与朊病毒基因T188K纯合子突变相关的克雅氏病：病例报告及文献综述
Yuheng Shan,Jiatang Zhang,Yuying Cen et al.
Yuheng Shan et al.
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...
Suehiro Sakaguchi,Hideyuki Hara
Suehiro Sakaguchi
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, ...
A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom [0.03%]
一例以妄想性误识为首发症状的V180I基因突变型库伯棘球绦虫病（CJD）病例报告
Tomoyuki Nagata,Shunichiro Shinagawa,Nobuyuki Kobayashi et al.
Tomoyuki Nagata et al.
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 strang...
Case Reports
Prion. 2022 Dec;16(1):7-13. DOI:10.1080/19336896.2021.2017701 2022