Evidence map›Paper›PMID 40500166›Full record

ArticleInternal medicine (Tokyo, Japan)2026

M232R Familial Creutzfeldt-Jacob Disease Challenging to Diagnose Due to the Absence of Characteristic Laboratory Findings.

Yoshiko Tanaka, Ken-Ichi Irie, Masashige Isogai, Tamon Koga, Shinichiro Mori, Takahisa Tateishi

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Yoshiko TanakaDivision of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.
Ken-Ichi IrieDivision of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.
Masashige IsogaiDivision of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.
Tamon KogaDivision of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.
Shinichiro MoriDivision of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.
Takahisa TateishiDivision of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 46-year-old man presented with an 8-month history of rapidly progressive dementia (RPD). Diffusion-weighted brain imaging, electroencephalography, and amyloid positron emission tomography revealed no significant findings. Creutzfeldt-Jakob disease (CJD) was considered in the differential diagnosis of RPD, and further testing revealed elevated 14-3-3 protein levels in the cerebrospinal fluid and the M232R mutation in the prion protein gene, confirming a diagnosis of hereditary CJD. We herein report a case of RPD that was challenging to diagnose as hereditary CJD because of the absence of characteristic findings suggestive of CJD on imaging and other examinations.

Indexed as

Creutzfeldt-Jakob Syndrome14-3-3 ProteinsDiagnosis, DifferentialElectroencephalographyHumansMaleMiddle AgedMutationPrion Proteins14-3-3 ProteinsPrion ProteinsCreutzfeldt-Jakob disease (CJD)familial prion diseaseM232R mutationrapidly progressive dementia (RPD)

Identifiers

PMID40500166
PMCPMC12854947

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.