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 affecting 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 (brain tissue) 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
• Lumbar puncture to evaluate the cerebrospinal fluid that surrounds the brain and spinal cord
• Brain biopsy
• Tonsillar 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:

• MRI scan
• CT scan
• SPECT scan

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

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.

National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov

Public Health Agency of Canada http://www.phac-aspc.gc.ca

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

Creutzfeldt-Jakob disease, classic (CJD). Centers for Disease Control and Prevention website. Available at:
http://www.cdc.gov/prions/cjd/index.html
Updated December 11, 2013. Accessed September 17, 2014.

Creutzfeldt-Jakob disease fact sheet. National Institute of Neurological Disorders and Stroke website. Available at:
http://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm
Updated May 22, 2014. Accessed September 17, 2014.

Mastrianni JA. The genetics of prion disease. Genet Med. 2010;12(4):187-195.

Patry D, Curry B, Easton D, Mastrianni JA, Hogan DB. Creutzfeld-Jakob disease (CJD) after blood product transfusion from a donor with CJD. Neurology. 1998;50(6):1872-1873.

Rinne ML, McGinnis SM, Samuels MA, Katz JT, Loscalzo J. Clinical problem-solving. A startling decline. N Engl J Med. 2012;366(9):836-842.