Rhoads et al. 2020, CSF RT-QuIC diagnosis improves US prion disease surveillance (Neurology 95(8):e1017-e1026)

Peer-reviewed analysis from the US National Prion Disease Pathology Surveillance Center of its first three years of routine CSF RT-QuIC testing. It reports overall accuracy against autopsy-verified cases, the disease types and CSF markers linked to false negatives, and the gain in laboratory-based case counting when RT-QuIC-positive cases are included alongside autopsy. Verified from the bibliographic and abstract records only; the full paper was not read.

Key facts

  • Bibliographic identity is consistent across three databases: Neurology 2020, volume 95, issue 8, pages e1017-e1026, DOI 10.1212/WNL.0000000000010086, PMID 32571851, twelve authors led by Daniel D. Rhoads and ending with Brian S. Appleby.
  • The center received 10,498 CSF specimens between May 2015 and April 2018.
  • Accuracy was measured in 567 autopsy-verified cases: sensitivity 90.3 percent and specificity 98.5 percent.
  • Sensitivity was lower for fatal familial insomnia, Gerstmann-Straussler-Scheinker disease, sporadic fatal insomnia, variably protease-sensitive prionopathy, and the VV1 and MM2 subtypes of sporadic CJD.
  • Prion disease cases with a negative RT-QuIC were younger and had lower CSF tau and non-elevated 14-3-3 compared with RT-QuIC-positive cases.
  • Sensitivity stayed high across the disease course, and some initially negative cases were positive on a later sample.
  • Counting RT-QuIC-positive cases raised laboratory-based case ascertainment by about 90 percent compared with autopsy alone.
  • The authors classify the evidence as Class III (patients screened for concerning symptoms); the abstract gives point estimates without confidence intervals.
  • Authors are affiliated with the NPDPSC at Case Western Reserve University, Yale School of Public Health and CDC; funding was CDC grant NU38 CK000480.

Timeline

  1. 2015to 2018-04 Period over which the 10,498 CSF specimens were received.
  2. 2020Electronic publication.
  3. 2020Print issue date, Neurology 95(8).

Last checked 1 November 2026

Sources for this page