Definition

Creutzfeldt-Jakob disease (CJD) is a rare, fatal, degenerative brain disorder characterized by rapidly progressive dementia.

CJD can be categorized into different subtypes:

  • Sporadic CJD—most common type; usually affects people aged 50 years and older
  • Familial CJD—an inherited form of the disease
  • Iatrogenic CJD—contracted through medical procedures, such as injections of growth hormone, receipt of corneal transplants, or dura mater implants from affected donors

Variant CJD (vCJD) is a different prion disease caused by eating contaminated beef products. This variant form differs from other forms of CJD because it affects younger people and has a longer average time course.

Causes

It is generally believed that CJD is caused by infectious proteins called prions. Prions are normal proteins in the body. If these prions fold up in a different way than normal, they may transform into the protein that causes the illness. The build-up of abnormal prions may be linked to the brain damage associated with CJD.

Risk Factors

People over 50 years old have an increased chance of getting sporadic CJD.

Family members with CJD increase your chance of getting familial CJD. Approximately 10% of cases are inherited.

Factors that may increase your chance of getting iatrogenic CJD include:

  • Use of cadaveric growth hormone
  • Cornea transplants
  • Dura mater grafts
  • Healthcare workers who work with brain tissues
  • Blood transfusion from someone with CJD

Symptoms

Symptoms may include:

  • Memory lapses
  • Difficulty concentrating
  • Impaired judgment
  • Difficulty with speech
  • Loss of coordination
  • Blurred vision
  • Behavior and mood changes
  • Muscle spasms
  • Seizures
  • Loss of mental and physical function

Diagnosis

You will be asked about your symptoms and medical history. A physical exam will be done.

CJD is a difficult disease to diagnose. There is no single test to detect it.

Your bodily fluids may be tested. This can be done with:

  • Blood tests
  • Cerebrospinal fluid analysis
  • Brain biopsy
  • Tonsillar biopsy and brain biopsy

The electrical activity of your brain may be tested. This can be done with an electroencephalogram (EEG).

Images may be taken of your bodily structures. This can be done with:

In many cases, final diagnosis requires an autopsy after death.

MRI Scan of the Brain
MRI of the Brain
Copyright © Nucleus Medical Media, Inc.

Treatment

There is no cure for CJD. The aim of treatment is to relieve pain and alleviate symptoms.

Your doctor may recommend:

  • Prescription pain relievers
  • Anticonvulsive medication for neuromuscular symptoms

Prevention

There are no current guidelines to prevent sporadic CJD.

If you have a family history of CJD, consider talking to a genetic counselor to better understand your risk.

The World Health Organization and Centers for Disease Control and Prevention have strict infection control guidelines to prevent iatrogenic CJD.

Revision Information

  • Reviewer: Rimas Lukas, MD
  • Review Date: 08/2014 -
  • Update Date: 09/17/2014 -
  • Creutzfeldt-Jakob Disease Foundation, Inc.

    http://www.cjdfoundation.org

  • National Institute of Neurological Disorders and Stroke

    http://www.ninds.nih.gov

  • Health Canada

    http://www.hc-sc.gc.ca

  • Public Health Agency of Canada

    http://www.phac-aspc.gc.ca

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  • Creutzfeldt-Jakob disease. EBSCO DynaMed website. Available at: http://www.ebscohost.com. Updated August 28, 2014. Accessed September 17, 2014.

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  • Rinne ML, McGinnis SM, et al. Clinical problem-solving. A startling decline. N Engl J Med. 2012;366(9):836-842.