Two Chinese patients of sporadic Creutzfeldt-Jacob disease with a S97N mutation in PRNP gene [0.03%]
两例PRNP基因S97N突变的散发性克雅病患者
Dong-Lin Liang,Qi Shi,Kang Xiao et al.
Dong-Lin Liang et al.
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 who were referred to the national Creutzfel...
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 [0.03%]
导致朊病毒蛋白基因第105密码子由脯氨酸至亮氨酸突变的Gerstmann-Sträussler-Scheinker病的区域脑血流变化特点
Honami Kawai,Taiki Matsubayashi,Takanori Yokota et al.
Honami Kawai et al.
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 s...
Case Reports
Prion. 2023 Dec;17(1):138-140. DOI:10.1080/19336896.2023.2256928 2023
Anti-recoverin antibody positive Heidenhain variant CJD: a case report [0.03%]
抗recoverin抗体阳性Heidenhain型变异型克雅病1例报告
Chi-Ting Chung,Tun Jao,Jen-Jen Su
Chi-Ting Chung
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-...
Case Reports
Prion. 2023 Dec;17(1):133-137. DOI:10.1080/19336896.2023.2223527 2023
Differentiated cultures of an immortalized human neural progenitor cell line do not replicate prions despite PrPC overexpression [0.03%]
不死性人神经前体细胞系的分化培养不能复制共价朊病毒 尽管PrPC过表达
Jessy A Slota,Xinzhu Wang,Diana Lusansky et al.
Jessy A Slota et al.
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 a...
Post COVID-19 AA amyloidosis of the kidneys with rapidly progressive renal failure [0.03%]
新冠肺炎后AA型肾淀粉样变迅速进展至肾衰竭病例报告
Tajamul H Mir,Parvaiz A Zargar,Alok Sharma et al.
Tajamul H Mir et al.
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 i...
Case Reports
Prion. 2023 Dec;17(1):111-115. DOI:10.1080/19336896.2023.2201151 2023
Cerebral cortex swelling in V180I genetic Creutzfeldt-Jakob disease: comparative imaging study between sporadic and V180I genetic Creutzfeldt-Jakob disease in the early stage [0.03%]
基因V180I型遗传性克雅病伴大脑皮层肿胀：与散发型克雅病的早期影像学对比研究
Yuki Muroga,Atsuhiko Sugiyama,Hiroki Mukai et al.
Yuki Muroga et al.
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, ...
Per Hammarström,Sofie Nyström
Per Hammarström
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 infec...
Estimating sequence diversity of prion protein gene (PRNP) in Portuguese populations of two cervid species: red deer and fallow deer [0.03%]
估计葡萄牙两种鹿类动物红鹿和黇鹿的致病蛋白基因(PRNP)序列多样性
Jorge C Pereira,Nuno Gonçalves-Anjo,Leonor Orge et al.
Jorge C Pereira et al.
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 Ju...
Expression of the cellular prion protein by mast cells in the human carotid body [0.03%]
人颈动脉体肥大细胞表达细胞型细丝蛋白普里昂蛋白
Gregory D Sweetland,Connor Eggleston,Jason C Bartz et al.
Gregory D Sweetland et al.
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 d...
Adeniyi C Adeola,Semiu F Bello,Abdussamad M Abdussamad et al.
Adeniyi C Adeola et al.
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 b...