A noninvasive test for human prion disease using hair roots and scalp

Invasive tests like cerebrospinal fluid (CSF) examination are highly effective for diagnosing human prion disease (HPD). Real-time quaking-induced conversion (RT-QuIC) CSF assay demonstrates 80-90% sensitivity for HPD diagnosis. To establish a minimally invasive diagnostic approach, we evaluated RT-QuIC testing on hair root and scalp samples. We collected scalp samples from 22 HPD and 5 non-HPD patients during pathological examinations and analyzed them using RT-QuIC assay and neuropathological methods. In our prospective study, hair root and CSF samples from 300 patients were tested using RT-QuIC assay along with other biomarkers, including 14-3-3 protein, total tau protein, RT-QuIC CSF assay, and MRI findings. All 22 HPD patients demonstrated positive prion seeding activity in scalp and hair root RT-QuIC assays. Neuropathological examination in one HPD patient revealed abnormal prion protein in scalp tissue. Among 177 HPD patients diagnosed by Japan Prion Surveillance Committee and 123 non-HPD patients, RT-QuIC assay of hair roots demonstrated sensitivity and specificity of 45.8% and 100%, respectively. Sensitivities of 14-3-3 protein, total tau protein, RT-QuIC CSF assay, and MRI findings were 83.1%, 86.4%, 74.6%, and 100%, respectively, with specificities of 65.0%, 65.0%, 100%, and 56.1%, respectively. RT-QuIC assays could be developed into novel diagnostic methods for neurodegenerative diseases.

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Publication Details

Journal
Scientific Reports
Published
2025-11-24
DOI
https://doi.org/10.1038/s41598-025-25310-y
Citations
1
Primary Topic
Prion Diseases and Protein Misfolding
Type
article
Field-Weighted Citation Impact
0.81

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article

A noninvasive test for human prion disease using hair roots and scalp

Shinsuke Fujioka, Takeshi Fujimoto, Motohiro Yukitake, Kenjiro Ono et al.
1 citations
Scientific Reports
Prion Diseases and Protein Misfolding
0.81
article

A noninvasive test for human prion disease using hair roots and scalp

Shinsuke Fujioka, Takeshi Fujimoto, Motohiro Yukitake, Kenjiro Ono, Hiroyuki Honda, Tsuyoshi Mori, Nobuo Sanjo, Hitaru Kishida, Tsuyoshi Hamaguchi, Michio Kitayama, Yoshio Tsuboi, Tadashi Tsukamoto, Takeshi Ikeuchi, Kensaku Kasuga, Hideki Mochizuki, Hirotsugu Takashima, Katsuya Satoh, Koji Fujita, Yoshihisa Takiyama, Tatsuhiro Terada, Thi-Thu-Trang Dong, Kensuke Ikenaka, Tetsuyuki Kitamoto, Akio Akagi, Masahito Yamada, Hiroyuki Murota, Masaki Takao, Noriyuki Nishida, Yasushi Iwasaki, Hidehiro Mizusawa
article en
1 citations

Abstract

Invasive tests like cerebrospinal fluid (CSF) examination are highly effective for diagnosing human prion disease (HPD). Real-time quaking-induced conversion (RT-QuIC) CSF assay demonstrates 80-90% sensitivity for HPD diagnosis. To establish a minimally invasive diagnostic approach, we evaluated RT-QuIC testing on hair root and scalp samples. We collected scalp samples from 22 HPD and 5 non-HPD patients during pathological examinations and analyzed them using RT-QuIC assay and neuropathological methods. In our prospective study, hair root and CSF samples from 300 patients were tested using RT-QuIC assay along with other biomarkers, including 14-3-3 protein, total tau protein, RT-QuIC CSF assay, and MRI findings. All 22 HPD patients demonstrated positive prion seeding activity in scalp and hair root RT-QuIC assays. Neuropathological examination in one HPD patient revealed abnormal prion protein in scalp tissue. Among 177 HPD patients diagnosed by Japan Prion Surveillance Committee and 123 non-HPD patients, RT-QuIC assay of hair roots demonstrated sensitivity and specificity of 45.8% and 100%, respectively. Sensitivities of 14-3-3 protein, total tau protein, RT-QuIC CSF assay, and MRI findings were 83.1%, 86.4%, 74.6%, and 100%, respectively, with specificities of 65.0%, 65.0%, 100%, and 56.1%, respectively. RT-QuIC assays could be developed into novel diagnostic methods for neurodegenerative diseases.

Scientific ReportsVol. 15(1)
Kanazawa University (JP), University of Miyazaki (JP), Tokyo Medical and Dental University (JP), University of Nagasaki (JP), Aichi Medical University (JP), Kanazawa Medical University (JP), Kawasaki Medical School (JP), Tohoku University (JP), Yokohama City University Medical Center (JP), Hamamatsu University School of Medicine (JP), Juntendo University (JP), Sasebo City General Hospital (JP), National Epilepsy Center (JP), Japan Pediatric Society (JP), National Center of Neurology and Psychiatry (JP), Kudanzaka Hospital (JP), Omuta hospital (JP), Dementia UK (GB), 108 Military Central Hospital (VN), Fuchu Hospital (JP), Nagasaki University (JP), University of Yamanashi (JP), Niigata University (JP), International University of Health and Welfare (JP), Yokohama City University (JP), Tokushima University (JP), The University of Osaka (JP)
Japan Agency for Medical Research and Development, Ministry of Health, Labour and Welfare, Daiichi Sankyo Company, Daiichi Sankyo Europe
Openalex Percentile: Top 21%
Prion Diseases and Protein Misfolding
0.81
DOIOpen Access PDFOpenAlex
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