Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

History and exam

Key diagnostic factors

  • cognitive impairment
  • aphasia
  • limb and/or gait ataxia
  • myoclonus
  • parkinsonism
  • psychiatric symptoms
  • visual changes
  • insomnia, dysautonomia
  • positive FHx
  • age late 20s or mid-to-late 60s
  • non-specific or constitutional symptoms

Other diagnostic factors

  • painful sensory symptoms
  • movement disorder

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

Diagnostic investigations

Investigations to consider

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

Treatment algorithm

ONGOING

Contributors

Authors VIEW ALL

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.

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 monograph. 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 monograph. RRF participates in the speakers' bureau for Pfizer, Forest, and Novartis. AK declares that she has no competing interests.

Peer reviewers VIEW ALL

Infectious Disease Specialist

Alabama Infectious Diseases Center

Huntsville

AL

Disclosures

AH declares that he has no competing interests.

Associate Professor of Medicine

University of Southern California

Keck School of Medicine

Los Angeles

CA

Disclosures

RAL declares that he has no competing interests.

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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