Creutzfeldt-Jakob disease (CJD) is a rare, fatal, degenerative brain disorder characterized by rapidly progressive dementia.
CJD can be categorized into different subtypes:
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.
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.
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:
Symptoms may include:
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:
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.
There is no cure for CJD. The aim of treatment is to relieve pain and alleviate symptoms.
Your doctor may recommend:
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.
Creutzfeldt-Jakob Disease Foundation, Inc.
National Institute of Neurological Disorders and Stroke
Public Health Agency of Canada
Brown K, Mastrianni JA. The prion diseases. J Geriatr Psychiatry Neurol. 2010;23(4):277-298.
Creutzfeldt-Jakob disease. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T114980/Creutzfeldt-Jakob-disease. Updated May 01, 2015. Accessed October 04, 2016.
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.
Last reviewed September 2016 by Rimas Lukas, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.