Prion disease

Last reviewed: 25 Aug 2022
Last updated: 27 Feb 2020

Summary

Definition

History and exam

Key diagnostic factors

  • cognitive impairment
  • limb and/or gait ataxia
  • myoclonus
  • parkinsonism
  • psychiatric symptoms
  • visual changes
  • age late 20s or mid-to-late 60s
  • insomnia, dysautonomia
  • positive¬†family history
  • nonspecific or constitutional symptoms
More key diagnostic factors

Other diagnostic factors

  • painful sensory symptoms
  • movement disorder
Other diagnostic factors

Risk factors

  • genetic predisposition
  • prion-contaminated surgical instruments
  • transfusion of blood or blood products (variant Creutzfeldt-Jakob disease)
  • consumption of UK beef from 1980 to 1996
  • consumption of US beef
  • deer, elk, moose hunting in endemic regions of US and Canada
  • use of human growth hormone
More risk factors

Diagnostic investigations

1st investigations to order

  • brain MRI
  • EEG
More 1st investigations to order

Investigations to consider

  • quaking-induced conversion (QuIC)
  • CSF biomarkers
  • prion protein gene genetic testing
  • biopsy (brain, tonsil)
More investigations to consider

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Valerie Sim, MD, FRCPC

Associate Professor

Department of Medicine

Division of Neurology

Centre for Prions and Protein Folding Diseases

University of Alberta

Edmonton

Alberta

Canada

Disclosures

VS declares that she has no competing interests.

Acknowledgements

Dr Valerie Sim would like to gratefully acknowledge Dr Michael D. Geschwind, Dr Amy Kuo, and Dr R. Ronald Finley, the previous contributors to this topic. MDG participates in the speakers' bureau for Pfizer, Forest, and Novartis; is consultant for MedaCorp, Gerson-Lehman Group, and Clinical Advisors Incorporated; and is an author of a number of references cited in this topic. RRF participates in the speakers' bureau for Pfizer, Forest, and Novartis. AK declares that she has no competing interests.

Peer reviewers

Ali Hassoun, MD, FACP, FIDSA, AAHIVS

Infectious Disease Specialist

Alabama Infectious Diseases Center

Huntsville

AL

Disclosures

AH declares that he has no competing interests.

Robert A. Larsen, MD

Associate Professor of Medicine

University of Southern California

Keck School of Medicine

Los Angeles

CA

Disclosures

RAL declares that he has no competing interests.

William A. Petri, Jr., MD, PhD, FACP

Chief and Professor of Medicine

Division of Infectious Diseases and International Health

University of Virginia Health System

Charlottesville

VA

Disclosures

WAP declares that he has no competing interests.

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  • Guidelines

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    • Evidence-based guideline: diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease
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