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Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review
Elgenidi A, Shir D, Piura YD, Sokol LL, Duara R, Lachner C, Day GS.. Journal of neurology, 2026-09-07
Topic: Amyloid, tau and blood-test diagnosis
Background Prion disease and Alzheimer disease (AD) are common causes of rapidly progressive dementia (RPD). Although most patients with prion disease are distinguished by MRI and CSF findings, selected cases mimic rapidly progressive AD. We characterized AD-prion disease mimics within a prospective cohort and the extant literature to identify the clinical features and tests that support accurate diagnoses in these patients.
Key findings
- Although most patients with prion disease are distinguished by MRI and CSF findings, selected cases mimic rapidly progressive AD.
- We characterized AD-prion disease mimics within a prospective cohort and the extant literature to identify the clinical features and tests that support accurate diagnoses in these patients.
- Methods Patients with prion disease initially diagnosed as rapidly progressive AD were identified from a prospective cohort study at Mayo Clinic (February 2020-June 2026) and through systematic review of MEDLINE and Embase.
- Results Of 204 patients with RPD, five (2.5%) were initially diagnosed with clinically probable AD but ultimately determined to have prion disease.
Why it matters
This case series and systematic review characterized patients with prion disease who were initially diagnosed as having rapidly progressive Alzheimer's disease, aiming to identify features and tests that support accurate diagnosis. It is about avoiding misdiagnosis and does not offer a treatment, cure, or prevention for Alzheimer's disease.
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Study details
- Study designsystematic review
- Participants15
- Effect size2.5%
- Evidence strengthHigh
How this study scored 52/100
Published in a peer-reviewed journal, and it is a systematic review of all the studies on the question.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of neurology) |
| Journal's citation record | 2 / 4 | Journal of Neurology: journal h-index 208 (OpenAlex, 2026-10-29) |
| Study design | 12 / 12 | A systematic review of all the studies on the question |
| Strength of evidence | 5 / 5 | Rated “high” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 5 / 5 | 2026 — within 1 year(s) of the newest study here |
| Sample size | 1 / 4 | 15 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | A review of other studies — randomisation is not credited here |
| Times cited | 0 / 7 | Cited 0 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.0 citations a year over 2 year(s) since 2026 |
| Impact for its field and year | 0 / 6 | Cited 0.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 0 / 4 | Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Gregory Scott Day: h-index 43 (OpenAlex, whole career) |
| Institution's track record | 0 / 3 | Mayo Clinic in Florida: institution h-index 681 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 42702666) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 52 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record names 7 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
APA 7th
Elgenidi, A., Shir, D., Piura, Y. D., Sokol, L. L., Duara, R., Lachner, C., et al. (2026). Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review. Journal of neurology. https://doi.org/10.1007/s00415-026-14087-3
Vancouver
Elgenidi A, Shir D, Piura YD, Sokol LL, Duara R, Lachner C, et al. Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review. Journal of neurology. 2026. doi:10.1007/s00415-026-14087-3. PMID: 42702666.
BibTeX
@article{elgenidi2026-42702666,
author = {Elgenidi, A. and Shir, D. and Piura, Y. D. and Sokol, L. L. and Duara, R. and Lachner, C. and Day, G. S.},
title = {{Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review}},
journal = {Journal of neurology},
year = {2026},
doi = {10.1007/s00415-026-14087-3},
pmid = {42702666},
url = {https://doi.org/10.1007/s00415-026-14087-3}
}
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