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Prion disease

Last reviewed: 21 Oct 2024
Last updated: 27 Sep 2024

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
Full details

Other diagnostic factors

  • painful sensory symptoms
  • movement disorder
Full details

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
Full details

Diagnostic tests

1st tests to order

  • brain MRI
  • EEG
Full details

Tests to consider

  • quaking-induced conversion (QuIC)
  • CSF biomarkers
  • prion protein gene genetic testing
  • biopsy (brain, tonsil)
Full details

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 is principal and co-investigator on several research grants through the University of Alberta, to study prion disease and related neurodegenerative diseases. VS has one patent approved for the development of IgE-based prion therapy. VS is currently a site lead for the Ionis PrProfile trial. VS has been invited to give an educational session on prion disease at the American Academy of Neurology meeting in 2024.

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

    • ACR appropriateness criteria: movement disorders and neurodegenerative diseases
    • Evidence-based guideline: diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease
    More Guidelines
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