Creutzfeldt-Jakob disease (CJD) belongs to a family of diseases called "prion disease" [pree-on] caused by abnormal "prions," microscopic infectious agents made of proteins. Prions cause a number of diseases in a variety of mammals, including bovine spongiform encephalopathy (BSE or "mad cow disease") in cattle and scrapie in sheep.
Your doctor’s first mission is to rule out other illnesses with rapidly progressive symptoms, some of which are treatable, that can present similarly to CJD.
Early symptoms tend to include personality changes and impaired muscular coordination, memory, judgment, thinking and vision.
Certain tests can help your doctor rule out or support a prion disease diagnosis.
CJD is not contagious in the same way as a cold or flu. Normal social contact with someone with CJD should not put you at any greater risk of acquiring it.
While there is no proven treatment or cure for CJD yet, there are ways to help relieve symptoms and participate in research studies to help find treatments.
If you are concerned about hereditary prion disease, you may want to meet a genetic counselor to help assess your risk of a genetic disorder and weigh the medical, social and ethical decisions surrounding genetic testing.
Because Creutzfeldt-Jakob disease (CJD) is a rare disease, most doctors have little, if any, experience diagnosing or managing CJD. There are resources available for you to share with your doctor.
The UCSF Memory and Aging Center has consulted on the evaluation of people diagnosed with rapidly progressive dementia from all over the world. If your doctor thinks you may have CJD or another rapidly progressive dementia, our specialists can review your medical records and see if a clinic visit is appropriate.
CJD belongs to a family of diseases called "prion disease" [pree-on] caused by abnormal "prions" – infectious, misshapen versions of a normal protein. Prions cause a number of diseases in a variety of mammals, including bovine spongiform encephalopathy (BSE or "mad cow disease") in cattle and scrapie in sheep.
Approximately 10–15% of people with prion disease have a genetic form. Genetic CJD is a hereditary genetic disorder due to abnormal changes in the prion gene. More than 20 alterations in the DNA sequence in the gene have been reported. The characteristics of the disease correlate with the different mutation types.