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Detection of prions in skin punch biopsies of Creutzfeldt-Jakob disease patients.
Annals of Clinical and Translational Neurology ( IF 5.3 ) Pub Date : 2020-03-06 , DOI: 10.1002/acn3.51000
Angela Mammana 1 , Simone Baiardi 2 , Marcello Rossi 1 , Alessia Franceschini 1 , Vincenzo Donadio 1 , Sabina Capellari 1, 2 , Byron Caughey 3 , Piero Parchi 1, 4
Affiliation  

Prion real‐time quaking‐induced conversion (RT‐QuIC) is an ultrasensitive assay detecting pathological aggregates of misfolded prion protein in biospecimens. We studied 71 punch biopsy skin samples of 35 patients with Creutzfeldt–Jakob disease (CJD), including five assessed in vitam. The results confirmed the high value of skin prion RT‐QuIC for CJD diagnosis (89% sensitivity and 100% specificity) and support its use in clinical practice. Preliminary data based on a limited number of cases suggest that prion‐seeding activity in the skin varies according to the prion strain, being higher in sporadic CJD subtypes linked to the V2 strain (VV2 and MV2K) than in typical CJDMM1.

中文翻译:

Creutzfeldt-Jakob病患者皮肤穿孔活检中punch病毒的检测。

Prion实时地震诱导的转化(RT-QuIC)是一种超灵敏的检测方法,用于检测生物样本中错误折叠的ion病毒蛋白的病理聚集体。我们研究了35例Creutzfeldt–Jakob病(CJD)患者的71例穿刺活检皮肤样本,其中包括5份在Vitam中评估的样本。结果证实了皮肤病毒RT-QuIC对CJD诊断具有很高的价值(89%的敏感性和100%的特异性),并支持其在临床实践中的使用。基于少数病例的初步数据表明,皮肤中的pr病毒播种活性根据the病毒株而异,与V2株(VV2和MV2K)相关的散发性CJD亚型要高于典型CJDMM1。
更新日期:2020-03-06
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