Systematic approach to diagnosing suspected Creutzfeldt-Jakob disease

Matthew M. Rode; Christopher Itoh; Santiago Martinez-Sosa; Blake A. Ebner; Bryce K. Chang; Eoin P. Flanagan; Marcus V. Pinto

doi:10.1136/bcr-2023-255174

Systematic approach to diagnosing suspected Creutzfeldt-Jakob disease

Matthew M. Rode, Christopher Itoh, Santiago Martinez-Sosa, Blake A. Ebner, Bryce K. Chang, Eoin P. Flanagan, Marcus V. Pinto

Neurology

Research output: Contribution to journal › Article › peer-review

Abstract

Evaluation of rapidly progressive dementia (RPD) is usually challenging. In most cases, patients progress to dementia in weeks to months, and the differential diagnosis is broad. In this case, a woman in her 60s presented with a 1-month history of episodic vertigo, cognitive decline, ataxia and myoclonus. Cerebrospinal fluid total tau was markedly elevated, which was helpful in establishing the diagnosis and discussing prognosis/end-of-life measures with the patient's family. This case summarises a stepwise diagnostic approach for patients with RPD and highlights recent literature on biomarkers of Creutzfeldt-Jakob disease and autoimmune encephalitis.

Original language	English (US)
Article number	e255174
Journal	BMJ case reports
Volume	16
Issue number	12
DOIs	https://doi.org/10.1136/bcr-2023-255174
State	Published - Dec 7 2023

Keywords

Brain stem/cerebellum
Movement disorders (other than Parkinson's)
Neuroimaging
Variant Creutzfeldt-Jakob disease

ASJC Scopus subject areas

General Medicine

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10.1136/bcr-2023-255174

Cite this

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title = "Systematic approach to diagnosing suspected Creutzfeldt-Jakob disease",

abstract = "Evaluation of rapidly progressive dementia (RPD) is usually challenging. In most cases, patients progress to dementia in weeks to months, and the differential diagnosis is broad. In this case, a woman in her 60s presented with a 1-month history of episodic vertigo, cognitive decline, ataxia and myoclonus. Cerebrospinal fluid total tau was markedly elevated, which was helpful in establishing the diagnosis and discussing prognosis/end-of-life measures with the patient's family. This case summarises a stepwise diagnostic approach for patients with RPD and highlights recent literature on biomarkers of Creutzfeldt-Jakob disease and autoimmune encephalitis.",

keywords = "Brain stem/cerebellum, Movement disorders (other than Parkinson's), Neuroimaging, Variant Creutzfeldt-Jakob disease",

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AU - Rode, Matthew M.

AU - Itoh, Christopher

AU - Martinez-Sosa, Santiago

AU - Ebner, Blake A.

AU - Chang, Bryce K.

AU - Flanagan, Eoin P.

AU - Pinto, Marcus V.

N1 - Publisher Copyright: © BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.

PY - 2023/12/7

Y1 - 2023/12/7

N2 - Evaluation of rapidly progressive dementia (RPD) is usually challenging. In most cases, patients progress to dementia in weeks to months, and the differential diagnosis is broad. In this case, a woman in her 60s presented with a 1-month history of episodic vertigo, cognitive decline, ataxia and myoclonus. Cerebrospinal fluid total tau was markedly elevated, which was helpful in establishing the diagnosis and discussing prognosis/end-of-life measures with the patient's family. This case summarises a stepwise diagnostic approach for patients with RPD and highlights recent literature on biomarkers of Creutzfeldt-Jakob disease and autoimmune encephalitis.

AB - Evaluation of rapidly progressive dementia (RPD) is usually challenging. In most cases, patients progress to dementia in weeks to months, and the differential diagnosis is broad. In this case, a woman in her 60s presented with a 1-month history of episodic vertigo, cognitive decline, ataxia and myoclonus. Cerebrospinal fluid total tau was markedly elevated, which was helpful in establishing the diagnosis and discussing prognosis/end-of-life measures with the patient's family. This case summarises a stepwise diagnostic approach for patients with RPD and highlights recent literature on biomarkers of Creutzfeldt-Jakob disease and autoimmune encephalitis.

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KW - Neuroimaging

KW - Variant Creutzfeldt-Jakob disease

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Systematic approach to diagnosing suspected Creutzfeldt-Jakob disease

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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