Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Creutzfeldt-Jakob disease


Other Names for this Disease
  • CJD
  • Creutzfeldt Jacob disease
  • Creutzfeldt Jakob disease
  • Creutzfeldt-Jacob disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. This condition often leads to death within a few weeks or months after symptoms begin. About 90 percent of patients do not survive for more than one year. In the United States, about 300 people are diagnosed with this condition each year. It occurs in approximately one in every one million people worldwide.

CJD can be very difficult to diagnose because it is similar to other forms of dementia. The only way to confirm the diagnosis is to test a small sample of brain tissue, which can be done by brain biopsy or autopsy. CJD is caused by the build up of abnormal prion proteins in the brain. For most patients, the reason for the abnormal prions is unknown (sporadic CJD). About 5 to 10 percent of cases are due to an inherited genetic mutation associated with CJD (familial CJD). This condition can also be acquired through contact with infected brain tissue (iatrogenic CJD) or consuming infected beef (variant CJD). There is no specific treatment for CJD, so the goal is to make a person as comfortable as possible.[1][2]
Last updated: 7/8/2015

References

  1. Creutzfeldt-Jakob Disease Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 2, 2015; http://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm#264203058.
  2. CJD Fact Sheet. Creutzfeld-Jakob Disease Foundation. http://www.cjdfoundation.org/webfm_send/76. Accessed 7/8/2015.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
  • Genetics Home Reference (GHR) contains information on Creutzfeldt-Jakob disease. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Endocrine and Metabolic Diseases Information Service, a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), provides information on this topic. Click on the link to view the information on this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Creutzfeldt-Jakob disease. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • CJD
  • Creutzfeldt Jacob disease
  • Creutzfeldt Jakob disease
  • Creutzfeldt-Jacob disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.