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CJD case reports reveal varied symptoms and delayed diagnoses

A case report and literature review examined how Creutzfeldt–Jakob disease was initially mistaken for other conditions.

By 100HP editorialAbstract-based explanation checked

Based on the published abstract. The full paper may contain additional methods, results and limitations.

The 30-second takeaway

The selected reports describe people whose CJD diagnosis was delayed or initially incorrect. Reported diagnostic delays ranged from 1 to 18 months. Behavioral changes, cognitive difficulties and movement signs appeared among the presentations. This collection illustrates diagnostic challenges; it cannot estimate how often CJD is missed or how likely these symptoms are to indicate it.

Keep in mind

The review selected reports involving diagnostic problems, so it cannot represent all CJD cases or establish how accurately any symptom distinguishes CJD from other conditions.

Why the diagnosis was difficult

Initial alternatives included psychiatric worsening, stroke, epilepsy and autoimmune encephalitis. The authors described a broad range of early presentations, which helps explain why patients could be evaluated by different specialties before CJD was considered.

What the individual case adds

The reported diagnosis drew on the presentation and clinical course, brain imaging and a protein marker. The abstract does not evaluate the diagnostic accuracy of these features or test a strategy for reducing delays.

CHECK THE ORIGINAL

The original publication

Case Report: Creutzfeldt-Jakob disease and diagnosis challenges: case report and evidence synthesis.

Failoc Rojas VE, Yazawa-Ballena Y, Alvarado-Moreno G et al.
F1000Res · 2025

PubMed ID
41509103
Record checked

AI-assisted research and writing. This explains one selected publication; it is not a complete review of everything known. Our approach.