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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月24日

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

摘要

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.