A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset [0.03%]
一位痉挛性瘫痪的患者发病9年后最终被确诊为V180I遗传型克雅氏病
Taichi Nomura,Ikuko Iwata,Ryoji Naganuma et al.
Taichi Nomura et al.
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...
Case Reports
Prion. 2020 Dec;14(1):226-231. DOI:10.1080/19336896.2020.1823179 2020
Association of chronic wasting disease susceptibility with prion protein variation in white-tailed deer (Odocoileus virginianus) [0.03%]
慢性消耗性疾病易感性与白尾鹿(Odocoileus virginianus)朊病毒蛋白变异的关联分析
Yasuko Ishida,Ting Tian,Adam L Brandt et al.
Yasuko Ishida et al.
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...
Correction [0.03%]
纠正
Published Erratum
Prion. 2020 Dec;14(1):206. DOI:10.1080/19336896.2020.1804218 2020
Focal sharp waves are a specific early-stage marker of the MM2-cortical form of sporadic Creutzfeldt-Jakob disease [0.03%]
焦点尖波是散发性克雅病MM2-皮层型的一个特定的早期标志物
Taiki Matsubayashi,Miho Akaza,Yuichi Hayashi et al.
Taiki Matsubayashi et al.
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 a...
John Bettinger,Sina Ghaemmaghami
John Bettinger
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 understoo...
Geographic variation in the PRNP gene and its promoter, and their relationship to chronic wasting disease in North American deer [0.03%]
北美洲鹿群中的PRNP基因及其启动子的地理变化与慢性消耗病的关系
Robert M Zink,Nadje Najar,Hernán Vázquez-Miranda et al.
Robert M Zink et al.
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...
Serial evaluation of swallowing function in a long-term survivor of V180I genetic Creutzfeldt-Jakob disease [0.03%]
V180I基因遗传性克雅病长期生存者吞咽功能的纵向评估
Kenjiro Kunieda,Yuichi Hayashi,Megumi Yamada et al.
Kenjiro Kunieda et al.
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...
Case Reports
Prion. 2020 Dec;14(1):180-184. DOI:10.1080/19336896.2020.1787090 2020
Prion domains as a driving force for the assembly of functional nanomaterials [0.03%]
朊蛋白作用域在功能性纳米材料组装中的驱动作用
Weiqiang Wang,Salvador Ventura
Weiqiang Wang
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 n...
Different post-mortem brain regions from three Chinese FFI patients induce different reactive profiles both in the first and second generation RT-QuIC assays [0.03%]
取自三位中国 Fatal familial insomnia患者的多种脑区诱导不同的一代和二代RT-QUIC反应谱型
Kang Xiao,Qi Shi,Wei Zhou et al.
Kang Xiao et al.
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 PrPS...
Alexey K Surin,Sergei Yu Grishin,Oxana V Galzitskaya
Alexey K Surin
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 regio...