High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.
High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.
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DOI：
10.1038/s41598-017-10922-w
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发表时间：
2017-09-06
影响因子：
4.6
通讯作者：
Parchi P
中科院分区：
文献类型：
--
作者：
Franceschini A;Baiardi S;Hughson AG;McKenzie N;Moda F;Rossi M;Capellari S;Green A;Giaccone G;Caughey B;Parchi P
快速进展性痴呆的早期和准确的体内诊断仍然具有挑战性，尽管它对可治疗形式的结果和预后的制定至关重要。实时震动诱导转化（RT-QuIC）是一种体外检测方法，首次能够特异性区分朊病毒疾病患者。本文采用239例明确或可能患有朊病毒疾病的患者和100例明确替代诊断的患者的脑脊液（CSF）样本，比较了第一代（PQ-CSF）和第二代（IQ-CSF） RT-QuIC检测的性能，并探讨了IQ-CSF在广谱人类朊病毒中的诊断价值。我们的研究结果证实了IQ-CSF检测人类朊病毒的高灵敏度，但对散发的CJD亚型MM2C和MM2T的灵敏度低于最佳灵敏度，对变异型CJD、Gerstmann-Sträussler-Scheinker综合征和致死性家族性失眠的灵敏度较低。虽然我们发现PQ-CSF和IQ-CSF的特异性没有差异，但IQ-CSF的敏感性有显著提高，在大约80%的PQ-CSF阴性的CJD样本中可以检测到朊病毒。我们的研究结果有力地支持了IQ-CSF在临床实践中的应用。通过快速准确地确认或排除CJD，该检测有望改善患者的结果和他们在治疗试验中的入组情况。
An early and accurate in vivo diagnosis of rapidly progressive dementia remains challenging, despite its critical importance for the outcome of treatable forms, and the formulation of prognosis. Real-Time Quaking-Induced Conversion (RT-QuIC) is an in vitro assay that, for the first time, specifically discriminates patients with prion disease. Here, using cerebrospinal fluid (CSF) samples from 239 patients with definite or probable prion disease and 100 patients with a definite alternative diagnosis, we compared the performance of the first (PQ-CSF) and second generation (IQ-CSF) RT-QuIC assays, and investigated the diagnostic value of IQ-CSF across the broad spectrum of human prions. Our results confirm the high sensitivity of IQ-CSF for detecting human prions with a sub-optimal sensitivity for the sporadic CJD subtypes MM2C and MM2T, and a low sensitivity limited to variant CJD, Gerstmann-Sträussler-Scheinker syndrome and fatal familial insomnia. While we found no difference in specificity between PQ-CSF and IQ-CSF, the latter showed a significant improvement in sensitivity, allowing prion detection in about 80% of PQ-CSF negative CJD samples. Our results strongly support the implementation of IQ-CSF in clinical practice. By rapidly confirming or excluding CJD with high accuracy the assay is expected to improve the outcome for patients and their enrollment in therapeutic trials.
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影响因子：
25
作者：
Aguzzi, Adriano;Falsig, Jeppe
通讯作者：
Falsig, Jeppe
影响因子：
29
作者：
Bongianni, Matilde;Orru, Christina;Zanusso, Gianluigi
通讯作者：
Zanusso, Gianluigi
影响因子：
48
作者：
Atarashi, Ryuichiro;Moore, Roger A.;Caughey, Byron
通讯作者：
Caughey, Byron
脑脊液中人类prion检测的诊断和预后价值。
影响因子：
11.2
作者：
Foutz A;Appleby BS;Hamlin C;Liu X;Yang S;Cohen Y;Chen W;Blevins J;Fausett C;Wang H;Gambetti P;Zhang S;Hughson A;Tatsuoka C;Schonberger LB;Cohen ML;Caughey B;Safar JG
通讯作者：
Safar JG
DOI：
10.1073/pnas.0710152105
发表时间：
2007-12-26
影响因子：
11.1
作者：
Colby, David W.;Zhang, Qiang;Prusiner, Stanley B.
通讯作者：
Prusiner, Stanley B.