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

Internal medicine (Tokyo, Japan) - 1 Jan 2026

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

Abstract excerpt

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...

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Identifiers

PMID: 40500166
DOI: 10.2169/internalmedicine.5585-25
PMCID: PMC12854947

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