Title |
Early Detection of Abnormal Prion Protein in Genetic Human Prion Diseases Now Possible Using Real-Time QUIC Assay
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Published in |
PLOS ONE, January 2013
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DOI | 10.1371/journal.pone.0054915 |
Pubmed ID | |
Authors |
Kazunori Sano, Katsuya Satoh, Ryuichiro Atarashi, Hiroshi Takashima, Yasushi Iwasaki, Mari Yoshida, Nobuo Sanjo, Hiroyuki Murai, Hidehiro Mizusawa, Matthias Schmitz, Inga Zerr, Yong-Sun Kim, Noriyuki Nishida |
Abstract |
The definitive diagnosis of genetic prion diseases (gPrD) requires pathological confirmation. To date, diagnosis has relied upon the finding of the biomarkers 14-3-3 protein and total tau (t-tau) protein in the cerebrospinal fluid (CSF), but many researchers have reported that these markers are not sufficiently elevated in gPrD, especially in Gerstmann-Sträussler-Scheinker syndrome (GSS). We recently developed a new in vitro amplification technology, designated "real-time quaking-induced conversion (RT-QUIC)", to detect the abnormal form of prion protein in CSF from sporadic Creutzfeldt-Jakob disease (sCJD) patients. In the present study, we aimed to investigate the presence of biomarkers and evaluate RT-QUIC assay in patients with gPrD, as the utility of RT-QUIC as a diagnostic tool in gPrD has yet to be determined. |
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