Abstract illustration symbolizing the diagnostic challenges of Creutzfeldt-Jakob disease and Wernicke's encephalopathy.

The Creutzfeldt-Jakob Puzzle: When a Rare Brain Disease Masks a Treatable Condition

Rhea Morgan in Health & Wellness December 2025 • 4 min read.

"Unraveling the complexities of CJD and Wernicke's encephalopathy for timely diagnosis and effective patient care."

Creutzfeldt-Jakob disease (CJD) is a rare and rapidly progressive brain disorder that causes cognitive decline and movement problems. Diagnosing CJD can be challenging, especially when its symptoms overlap with other conditions.

Researchers have discovered a case where CJD was complicated by Wernicke's encephalopathy (WE), a condition caused by thiamine deficiency. WE is treatable, making it crucial to distinguish it from or recognize its presence alongside CJD. This discovery highlights the importance of thorough investigation when diagnosing CJD.

This article explores the complexities of diagnosing CJD, especially when it occurs with WE. It emphasizes the need for increased awareness and detailed pathological examinations to ensure accurate diagnoses and appropriate treatment.

Decoding the Overlap: CJD and Wernicke's Encephalopathy

Abstract illustration symbolizing the diagnostic challenges of Creutzfeldt-Jakob disease and Wernicke's encephalopathy.

CJD typically presents with a swift decline in cognitive function, involuntary muscle jerks (myoclonus), and specific patterns on brainwave tests (electroencephalography or EEG) and magnetic resonance imaging (MRI). However, diagnosing CJD can be difficult when other conditions are present.

Wernicke's encephalopathy (WE) is caused by a deficiency in thiamine (vitamin B1), leading to damage in specific brain areas. It's often associated with alcoholism but can also arise from malnutrition, prolonged intravenous feeding without sufficient thiamine, and other conditions.

The overlapping symptoms of CJD and WE include:
- Confusion
- Problems with coordination and balance (ataxia)
- Eye movement abnormalities
- Changes in mental status
This overlap can lead to diagnostic challenges, potentially delaying treatment for WE, which is a treatable condition.

In a recent case study, an 83-year-old man initially presented with gait disturbance and cognitive decline, symptoms suggestive of CJD. However, a detailed autopsy revealed the presence of both CJD and previously undiagnosed WE. This highlights the critical need for vigilance and comprehensive examinations.

The Path Forward: Improving Diagnosis and Awareness

This case emphasizes the importance of considering WE in patients suspected of having CJD, particularly when atypical symptoms are present or when risk factors for thiamine deficiency exist. Conversely, CJD should be considered in patients presenting with WE-like symptoms, especially if the condition progresses rapidly or doesn't respond to thiamine treatment.

Accurate diagnosis relies on a combination of clinical evaluation, brain imaging, and laboratory tests. In some cases, a brain biopsy or autopsy may be necessary to confirm the diagnosis and identify any co-existing conditions.

By increasing awareness of the potential overlap between CJD and WE, clinicians can improve diagnostic accuracy, leading to earlier treatment and better outcomes for patients with these complex neurological disorders. Pathological investigations are critical for CJD, WE and coexistence of both for diagnosis. More research and collaboration are needed to better understand the relationship between these conditions and develop more effective diagnostic and therapeutic strategies.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.1080/19336896.2018.1545525, Alternate LINK

Title: An Autopsied Case Of Mm1-Type Sporadic Creutzfeldt-Jakob Disease With Pathology Of Wernicke Encephalopathy

Subject: Infectious Diseases

Journal: Prion

Publisher: Informa UK Limited

Authors: Yasushi Iwasaki, Rina Hashimoto, Yufuko Saito, Ikuko Aiba, Akira Inukai, Akio Akagi, Maya Mimuro, Hiroaki Miyahara, Tetsuyuki Kitamoto, Mari Yoshida

Published: 2018-11-14

Everything You Need To Know

What is Creutzfeldt-Jakob disease?

Creutzfeldt-Jakob disease (CJD) is a rare and rapidly progressive brain disorder that leads to cognitive decline and movement problems. Diagnosing Creutzfeldt-Jakob disease can be challenging because its symptoms can overlap with other conditions. A definitive diagnosis often requires detailed pathological examinations.

What is Wernicke's encephalopathy, and what causes it?

Wernicke's encephalopathy (WE) is caused by a deficiency in thiamine (vitamin B1), which leads to damage in specific areas of the brain. While frequently associated with alcoholism, Wernicke's encephalopathy can also result from malnutrition, prolonged intravenous feeding without adequate thiamine, and other conditions that impair thiamine absorption or utilization. Because Wernicke's encephalopathy is treatable with thiamine supplementation, prompt recognition is crucial.

What symptoms do Creutzfeldt-Jakob disease and Wernicke's encephalopathy share?

The overlapping symptoms between Creutzfeldt-Jakob disease and Wernicke's encephalopathy include confusion, problems with coordination and balance (ataxia), eye movement abnormalities, and changes in mental status. This symptomatic overlap creates diagnostic challenges, as the presence of these symptoms may initially point towards Creutzfeldt-Jakob disease, potentially overshadowing the possibility of co-existing and treatable Wernicke's encephalopathy. Vigilance is required to not overlook treatable conditions.

How should healthcare providers approach a suspected case of Creutzfeldt-Jakob disease to ensure accurate diagnosis?

If someone is suspected of having Creutzfeldt-Jakob disease, healthcare providers should consider the possibility of concurrent Wernicke's encephalopathy, especially if the patient presents with atypical symptoms or has risk factors for thiamine deficiency. Conversely, in patients presenting with Wernicke's encephalopathy-like symptoms, Creutzfeldt-Jakob disease should be considered, particularly if the condition progresses rapidly or doesn't respond to thiamine treatment. Early recognition of both diseases is vital.

What are the implications of overlooking Wernicke's encephalopathy in a patient suspected of having Creutzfeldt-Jakob disease, or vice versa?

The co-occurrence of Creutzfeldt-Jakob disease and Wernicke's encephalopathy underscores the need for thorough investigation and detailed pathological examinations. Failure to recognize Wernicke's encephalopathy in a patient primarily suspected of having Creutzfeldt-Jakob disease can result in delayed treatment and potentially irreversible neurological damage. Likewise, dismissing Creutzfeldt-Jakob disease in a patient being treated for Wernicke's encephalopathy can delay appropriate supportive and palliative care. Increased awareness and vigilance among healthcare professionals are essential to improving diagnostic accuracy and patient outcomes in these complex cases.