The Generative Brain

National Prion Disease Pathology Surveillance Center (NPDPSC)

The US national reference center for prion disease at Case Western Reserve University: coordinates autopsies, runs the nation's clinical reference laboratory for CSF (RT-QuIC, 14-3-3, tau) and PRNP testing, offers free brain MRI consultation, and sponsors the PROSPECT registry through its investigators. Funded for surveillance by the CDC.

Key facts

  • Created in 1997 at Case Western in response to variant CJD, with the CDC and Pierluigi Gambetti; CDC funds the neuropathologic surveillance; sponsored by the American Association of Neuropathologists; described as the only center of its kind in the US.
  • Services: CSF RT-QuIC, 14-3-3 and tau; PRNP genetic testing; characterization of disease type; autopsy coordination; free brain MRI consultation; Meghan Lewis is autopsy program manager.
  • Surveillance counts: sporadic cases to date include 5,298 sCJD, 96 VPSPr and 43 sporadic fatal insomnia; in December 2024 the figures were 4,923, 92 and 41, and 324 familial cases had been diagnosed by blood alone; familial cases were 16 to 28 a year in the 2000s (23 in 2012).
  • Acquired disease: 4 variant CJD cases (all exposed outside the US) and 15 iatrogenic cases, mostly from cadaveric growth hormone.
  • Probable cases now include positive CSF RT-QuIC results tested at Mayo Clinic (12 in 2024, 88 in 2025, 56 in 2026 so far), showing a second US laboratory offering RT-QuIC.
  • Testing logistics and prices: CSF must be frozen and shipped on dry ice; RT-QuIC sensitivity 90.3 percent and specificity 98.5 percent; PRNP blood test USD 274.83 without a confirmed family history, 15 business days.
  • Its studies list shows PRiSM recruiting at US sites with international sites not applicable, ION717-CS2 not recruiting, TAPCJD recruiting and PROSPECT not recruiting.
  • Faculty include Brian Appleby (PROSPECT sponsor-investigator) and Qingzhong Kong (ADAM8 gene therapy grant); it is a referral destination for samples from other countries.

Timeline

  1. 1997Founded at Case Western with the CDC and Pierluigi Gambetti.
  2. 2024Surveillance table update (4,923 sCJD).
  3. 2026CSF requisition form updated.
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