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Creutzfeldt-Jakob disease

Medically reviewed by Drugs.com. Last updated on Jan 28, 2023.

Overview

Creutzfeldt-Jakob (KROITS-felt YAH-kobe) disease, also known as CJD, is a rare brain disorder that leads to dementia. It belongs to a group of human and animal diseases known as prion disorders. Symptoms of Creutzfeldt-Jakob disease can be similar to those of Alzheimer's disease. But Creutzfeldt-Jakob disease usually gets worse much faster and leads to death.

CJD received public attention in the 1990s when some people in the United Kingdom became sick with a form of the disease. They developed variant CJ, known as vCJD, after eating meat from diseased cattle. However, most cases of Creutzfeldt-Jakob disease haven't been linked to eating beef.

All types of CJD are serious but are very rare. About 1 to 2 cases of CJD are diagnosed per million people around the world each year. The disease most often affects older adults.

Symptoms

Creutzfeldt-Jakob disease is marked by changes in mental abilities. Symptoms get worse quickly, usually within several weeks to a few months. Early symptoms include:

Death usually occurs within a year. People with Creutzfeldt-Jakob disease usually die of medical issues associated with the disease. They might include having trouble swallowing, falls, heart issues, lung failure, or pneumonia or other infections.

In people with variant CJD, changes in mental abilities may be more apparent in the beginning of the disease. In many cases, dementia develops later in the illness. Symptoms of dementia include the loss of the ability to think, reason and remember.

Variant CJD affects people at a younger age than CJD. Variant CJD appears to last 12 to 14 months.

Another rare form of prion disease is called variably protease-sensitive prionopathy (VPSPr). It can mimic other forms of dementia. It causes changes in mental abilities and problems with speech and thinking. The course of the disease is longer than other prion diseases — about 24 months.

Causes

Creutzfeldt-Jakob disease and related conditions appear to be caused by changes to a type of protein called a prion. These proteins are typically produced in the body. But when they encounter infectious prions, they fold and become another shape that's not typical. They can spread and affect processes in the body.

How Creutzfeldt-Jakob disease develops

The risk of getting CJD is low. The disease can't be spread through coughing or sneezing. It also can't be spread by touching or sexual contact. CJD can develop in three ways:

How prions fold

Prions are proteins that occur naturally in the brains of animals and people. Normally, the proteins are harmless, but when they're misshapen, they can cause devastating illnesses such as disease in cattle and Creutzfeldt-Jakob disease in humans.

Risk factors

Most cases of Creutzfeldt-Jakob disease occur for unknown reasons. So risk factors can't be identified. But a few factors seem to be associated with different kinds of CJD.

Autosomal dominant inheritance pattern

In an autosomal dominant disorder, the changed gene, also called a mutation, is a dominant gene. It's located on one of the nonsex chromosomes, called autosomes. You need only one changed gene to be affected by this type of disorder. A person with an autosomal dominant disorder — in this example, the father — has a 50% chance of having an affected child with one changed gene. The person has a 50% chance of having an unaffected child.

Complications

Creutzfeldt-Jakob disease has serious effects on the brain and body. The disease usually progresses quickly. Over time, people with CJD withdraw from friends and family. They also lose the ability to care for themselves. Many slip into a coma. The disease is always fatal.

Prevention

There's no known way to prevent sporadic CJD. If you have a family history of neurological disease, you may benefit from talking with a genetics counselor. A counselor can help you sort through your risks.

Preventing Creutzfeldt-Jakob disease related to medical procedures

Hospitals and other medical institutions follow clear policies to prevent CJD related to medical procedures, known as iatrogenic CJD. These measures have included:

To help ensure the safety of the blood supply, people with a risk of exposure to CJD or vCJD aren't eligible to donate blood in the United States. This includes people who:

The United Kingdom (U.K.) and certain other countries also have specific restrictions regarding blood donations from people with a risk of exposure to CJD or vCJD.

Preventing variant Creutzfeldt-Jakob disease

The risk of getting vCJD in the United States remains very low. Only four cases have been reported in the U.S. According to the U.S. Centers for Disease Control and Prevention (CDC), strong evidence suggests that these cases were acquired in other countries outside of the U.S.

In the United Kingdom (U.K.), where the majority of vCJD cases have occurred, fewer than 200 cases have been reported. CJD incidence peaked in the U.K. between 1999 and 2000 and has been declining since. A very small number of other vCJD cases also have been reported in other countries worldwide.

To date, there is no evidence that people can develop Creutzfeldt-Jakob disease from consuming the meat of animals infected with chronic wasting disease (CWD). However, the CDC recommends that hunters strongly consider taking precautions. The CDC recommends having deer and elk tested before eating the meat in areas where CWD is known to be present. Hunters also should avoid shooting or handling meat from deer or elk that appear sick or are found dead.

Regulating potential sources of variant Creutzfeldt-Jakob disease

Most countries have taken steps to prevent meat infected with bovine spongiform encephalopathy (BSE) from entering the food supply. Steps include:

Diagnosis

A brain biopsy or an exam of brain tissue after death, known as an autopsy, is the gold standard to confirm the presence of Creutzfeldt-Jakob disease, known as CJD. But health care providers often can make an accurate diagnosis before death. They base a diagnosis on your medical and personal history, a neurological exam, and certain diagnostic tests.

A neurological exam may point to CJD if you're experiencing:

In addition, health care providers commonly use these tests to help detect CJD:

Treatment

No effective treatment exists for Creutzfeldt-Jakob disease or any of its variants. Many medicines have been tested and haven't shown benefits. Health care providers focus on relieving pain and other symptoms and on making people with these diseases as comfortable as possible.

Preparing for your appointment

You're likely to start by seeing your primary care provider. In some cases when you call for an appointment, you may be referred immediately to a brain specialist, known as a neurologist.

Here's some information to help you prepare for your appointment.

What you can do

For Creutzfeldt-Jakob disease, some basic questions to ask your provider include:

Don't hesitate to ask other questions.

What to expect from your doctor

Your health care provider is likely to ask you a number of questions, including:

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