Creutzfeldt-Jakob disease - symptoms and causes (2023)

overview

Creutzfeldt-Jakob disease (KROITS-felt YAH-kobe), also known as CJD, is a rare brain disorder that leads to dementia. It belongs to a group of diseases in humans and animals known as prion diseases. The symptoms of Creutzfeldt-Jakob disease can resemble those of Alzheimer's disease. But Creutzfeldt-Jakob disease usually worsens much faster and leads to death.

CJDreceived public attention in the 1990s when some people in the UK contracted 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 have not been linked to beef consumption.

All kind ofCJDare serious but very rare. About 1 to 2 cases ofCJDare diagnosed every year per million people around the world. The disease most commonly affects older adults.

symptoms

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

  • personality changes.
  • memory loss.
  • impaired thinking.
  • Blurred vision or blindness.
  • Insomnia.
  • problems with coordination.
  • problems speaking.
  • Difficulties swallowing.
  • Sudden, jerky movements.

Death usually occurs within a year. People with Creutzfeldt-Jakob disease usually die from medical problems related to the disease. These may include difficulty swallowing, falls, heart problems, lung failure or pneumonia, or other infections.

In people with variantCJD, changes in mental abilities may be more evident at the onset of the disease. In many cases, dementia develops later in the course of the disease. Symptoms of dementia include loss of the ability to think, reason and remember.

variantCJDaffects people younger thanCJD. variantCJDseems to last 12 to 14 months.

(Video) Creutzfeldt-Jakob Disease (CJD): An Overview of Symptoms, Causes, & Diagnosis

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

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causes

How prions fold

Creutzfeldt-Jakob disease - symptoms and causes (1)

How prions fold

Prions are proteins that occur naturally in the brains of animals and humans. Normally, the proteins are harmless, but when deformed, they can cause devastating diseases such as:BSEBovine disease and Creutzfeldt-Jakob disease in humans.

(Video) Prion Disease - Deadliest Disease. Creutzfeldt–Jakob disease symptoms, causes and prognosis

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

How Creutzfeldt-Jakob disease develops

Getting the riskCJDis low. The disease cannot be transmitted through coughing or sneezing. It also cannot be spread through touch or sexual contact.CJDcan develop in three ways:

  • Sporadic.Most people with Creutzfeldt-Jakob disease develop the disease for no apparent reason. This type is called spontaneousCJDor sporadicallyCJD, accounts for most cases.
  • By inheritance.Less than 15% of people withCJDhave a family history. You can test positive for genetic changes related to the disease. This type is called familialCJD.

    called changes in a genePRNPthis causes prion protein to cause the genetic forms of the disease. Rare genetic forms also include Gerstmann-Straussler-Scheinker syndrome. This syndrome causes problems with movement and perception. It often affects people in their 40s. Another rare genetic form is fatal familial insomnia. This leads to an inability to sleep and changes in memory and thinking.

  • through contamination.A small number of people have evolvedCJDas a result of medical interventions. These procedures involved injections of human growth hormone from the pituitary gland from an infected source. This also included corneal and skin transplants from those affectedCJD. Medical centers have changed their procedures to eliminate these risks.

    Also, some people have developed Creutzfeldt-Jakob disease after brain surgery using contaminated instruments. This happened because standard cleaning methods do not destroy the prions that cause the disease. Today instruments that may have been contaminated withCJDare destroyed.

    Cases related to medical procedures are called iatrogenicCJD.

    A small number of people have developed a variantCJDfrom eating contaminated beef. variantCJDis associated with consumption of beef from cattle infected with mad cow disease. Mad cow disease is known as bovine spongiform encephalopathy (BSE).

risk factors

Autosomal dominant inheritance pattern

Creutzfeldt-Jakob disease - symptoms and causes (2)

Autosomal dominant inheritance pattern

In an autosomal dominant disease, the altered gene is a dominant gene located on one of the non-sex chromosomes called autosomes. You only need one altered gene to be affected by this type of disorder. A person with an autosomal dominant disorder - in this case the father - has a 50 percent chance of having an affected child with an altered gene. The altered gene is called the dominant gene. The person has a 50% chance of having an unaffected child with two typical genes known as recessive genes.

(Video) CJD Creutzfeldt-Jakob Disease - Mayo Clinic

Most cases of Creutzfeldt-Jakob disease occur for unknown reasons. Therefore, risk factors cannot be identified. But a few factors seem to be associated with different types ofCJD.

  • Alter.SporadicCJDtends to develop later in life, usually around the age of 60. Family beginningCJDoccurs a little earlier. AndvCJDhas affected people at a much younger age, usually in their late 20s.
  • Genetic.People with familialCJDhave genetic changes that cause the disease. In order to develop this form of the disease, a child must have one copy of the causative geneCJD. The gene can be passed on from either parent. If you have the gene, there is a 50% chance of passing it on to your children.
  • Exposure to contaminated tissue.People who have received infected human growth hormone may be at iatrogenic riskCJD. Receiving a transplant of tissue that covers the brain, called the dura mater, from someone withCJDmay also put a person at iatrogenic riskCJD.

    Getting the riskvCJDfrom eating contaminated beef is very low. In countries that have implemented effective public health measures, the risk is virtually non-existent. Chronic Wasting Disease (CWD) is a prion disease that affects deer, elk, reindeer, and elk. It has been found in some areas of North America. So far no documented cases ofCWDhave caused disease in humans.

complications

Creutzfeldt-Jakob disease has serious effects on the brain and body. The disease usually progresses quickly. Over time people withCJDwithdraw from friends and family. They also lose the ability to take care of themselves. Many fall into comas. The disease is always fatal.

prevention

There is no known way to prevent sporadicCJD. If you have a family history of neurological disorders, you may benefit from speaking with a genetics counselor. An advisor can help you sort out your risks.

(Video) Wing-Beating Tremor in Creutzfeldt-Jakob Disease (CJD)

Prevention of Creutzfeldt-Jakob disease associated with medical procedures

Hospitals and other medical facilities follow clear guidelines for preventionCJDassociated with medical procedures, known as iatrogenicCJD. These measures included:

  • Use only man-made human growth hormone. This is used instead of taking the hormone from the human pituitary gland.
  • Destruction of surgical instruments that may have been exposedCJD. This includes instruments used in procedures involving the brain or nerve tissue of a person with known or suspected Creutzfeldt-Jakob disease.
  • Disposable kits for spinal taps, also called lumbar punctures.

To ensure the safety of the blood supply, those at risk of exposureCJDorvCJDare not eligible to donate blood in the United States. This includes people who:

  • Do you have a blood relative who has had a family diagnosis?CJD. Blood relatives are parents, aunts, uncles, grandparents and cousins.
  • Received a dura mater brain transplant. Dura mater is the tissue that covers the brain.
  • Got human growth hormone from cadavers.

The United Kingdom (United Kingdom) and certain other countries also have specific restrictions on donating blood from people at risk of exposureCJDorvCJD.

Prevention of variant Creutzfeldt-Jakob disease

Getting the riskvCJDremains very low in the United States. Only four cases have been reported in the US. According to the US Centers for Disease Control and Prevention (CDC), strong evidence suggests these cases were acquired in other countries outside the US.

In the UK where the majority ofvCJDCases have occurred, fewer than 200 cases have been reported.CJDIncidence reached in theUNITED KINGDOM.between 1999 and 2000 and has been declining ever since. A very small number of othersvCJDCases have also been reported in other countries around the world.

To date, there is no evidence that humans can contract Creutzfeldt-Jakob disease from eating meat from animals infected with Chronic Wasting Disease (CWD). However, theCDCstrongly recommends that hunters take precautions. TheCDCrecommends that deer and elk be tested before eating the meat in areas where this is the caseCWDis known to exist. Hunters should also avoid shooting or handling meat from deer or elk that appear sick or are found dead.

Regulation of potential sources of variant Creutzfeldt-Jakob disease

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

  • Strict restrictions on the import of cattle from countries whereBSEis common.
  • Animal Feed Restrictions.
  • Strict procedures for handling sick animals.
  • Monitoring and testing methods for tracking cattle health.
  • Restrictions on which parts of cattle can be processed into food.

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FAQs

What is the main cause of Creutzfeldt-Jakob disease? ›

Creutzfeldt-Jakob disease (CJD) is caused by an abnormal infectious protein in the brain called a prion. Proteins are molecules made up of amino acids that help the cells in our body function. They begin as a string of amino acids that then fold themselves into a 3-dimensional shape.

What is Creutzfeldt-Jakob disease CJD and what causes it? ›

Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, invariably fatal neurodegenerative disorder believed to be caused by an abnormal isoform of a cellular glycoprotein known as the prion protein.

What are three symptoms of CJD? ›

Initial neurological symptoms of sporadic CJD can include: difficulty walking caused by problems with balance and co-ordination. slurred speech. numbness or pins and needles in different parts of the body.

What meat causes Creutzfeldt-Jakob disease? ›

Since 1996, strong evidence has accumulated for a causal relationship between ongoing outbreaks primarily in Europe of a disease in cattle called bovine spongiform encephalopathy (BSE, or “mad cow disease”) and a disease in humans called variant Creutzfeldt-Jakob disease (vCJD).

How do you get variant Creutzfeldt-Jakob disease? ›

Variant Creutzfeldt-Jakob disease, or vCJD, is a very rare, fatal disease that can infect a person for many years before making them sick by destroying brain cells. Eating beef and beef products contaminated with the infectious agent of bovine spongiform encephalopathy (BSE) is the main cause of vCJD.

Does stress cause CJD? ›

Further data indicated that stressful events seem to influence not only the onset of CJD but also the progression of the disease.

Is Creutzfeldt-Jakob disease caused by cannibalism? ›

It is caused by an infectious protein (prion) found in contaminated human brain tissue. Kuru is found among people from New Guinea who practiced a form of cannibalism in which they ate the brains of dead people as part of a funeral ritual.

How do humans get prion disease? ›

Risk factors for prion disease include: Family history of prion disease. Eating meat infected by “mad cow disease” Infection from receiving contaminated corneas or from contaminated medical equipment.

How soon do CJD symptoms appear? ›

Patients with CJD eventually lose the ability to talk, walk, and take care of themselves. The disease progresses rapidly and most patients with CJD die within one year of illness onset. How soon after exposure do symptoms appear? It can take 15 months–30 years or more for symptoms to appear.

Can CJD come on suddenly? ›

All types of Creutzfeldt-Jakob disease (CJD) are extremely rare degenerative brain disorders (i.e., spongiform encephalopathies), characterized by the sudden onset of cognitive impairments and neuromuscular symptoms.

How long do CJD patients live? ›

CJD patients usually die within one year following the onset of symptoms. An autopsy is very important in the diagnosis of CJD because it is the best way to confirm presence of the disease.

What food causes Creutzfeldt Jakob disease? ›

Cases related to medical procedures are referred to as iatrogenic CJD . A small number of people have developed variant CJD from eating contaminated beef. Variant CJD is linked to eating beef from cattle infected with mad cow disease. Mad cow disease is known as bovine spongiform encephalopathy (BSE).

What organ does Creutzfeldt Jakob disease affect? ›

Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative condition. It has severe effects on the brain. CJD gradually destroys brain cells and causes tiny holes to form in the brain. People with CJD experience difficulty controlling body movements, changes in gait and speech, and dementia.

Who is at increased risk of CJD? ›

Everyone who has received a dura mater graft obtained from humans has an increased risk of CJD.

Can you prevent Creutzfeldt-Jakob disease? ›

To reduce any risk of acquiring vCJD from food, travelers to Europe or other areas with indigenous cases of BSE may consider either avoiding beef and beef products altogether or selecting beef or beef products, such as solid pieces of muscle meat (rather than brains or beef products like burgers and sausages), that ...

Can Creutzfeldt-Jakob disease be cured? ›

There's no proven cure for Creutzfeldt-Jakob disease (CJD), but clinical studies are under way at the National Prion Clinic to investigate possible treatments. At present, treatment involves trying to keep the person as comfortable as possible and reducing symptoms with medicines.

Is CJD the same as mad cow disease? ›

CJD is not the same as mad cow disease or CWD. All three diseases are in the TSE family and can cause related illnesses and brain lesions. However, they are caused by three different prions that can be differentiated from one another in a laboratory.

Do CJD patients suffer? ›

They may feel discomfort, and some of the symptoms of the disease such as myoclonus are distressing to caregivers. Neurologists believe there is no pain associated with the disease itself.

Is CJD contagious after death? ›

Are there any risks to relatives in viewing the body of a patient who has died with CJD? There is no evidence that CJD can be passed from one person to another by contact with the skin or hair. Therefore, the body bag can be opened to allow relatives to view the body, and, if they wish, have contact with the deceased.

Is Alzheimer's a prion disease? ›

Prion diseases are caused by the toxic misfolding and clumping of the prion protein, PrP. Although Alzheimer's is not a prion disease, and the PrP, Aβ, and tau proteins each normally fold into distinct 3D shapes, upon misfolding, all three proteins can all form aggregates that have a very specific structural pattern.

What foods contain prions? ›

Prion diseases occur in humans, for example Creutzfeldt-Jakob disease (CJD) and kuru. They also occur in food-producing animals (Table 1), namely the ruminant species sheep, goats, cattle and deer.

How do you get rid of prions? ›

They can be frozen for extended periods of time and still remain infectious. To destroy a prion it must be denatured to the point that it can no longer cause normal proteins to misfold. Sustained heat for several hours at extremely high temperatures (900°F and above) will reliably destroy a prion.

Is Parkinson's a prion disease? ›

It is thus possible that PD is a prion disorder resulting from increased production and/or impaired clearance of proteins such as α-synuclein, leading to misfolding and the formation of toxic oligomers, aggregates, and cell death.

Can CJD be detected in blood? ›

The only way to confirm a diagnosis of CJD is to examine the brain tissue by carrying out a brain biopsy or, more commonly, after death in a post-mortem examination of the brain.

What are the last stages of CJD? ›

In the final stage, patients lose all mental and physical function and may lapse into a coma. Many patients die from an infection such as pneumonia. The average duration of disease — from the onset of symptoms to death — is four to six months. Ninety percent of patients die within a year.

What is the longest survivor of CJD? ›

In genetic cases, survival is more prolonged than in sporadic CJD, and the average disease duration of V180I gCJD patients is known as 23 to 27 months. We report a V180I gCJD patient who survived for 16 years, the longest at present.

Who is most likely to get Creutzfeldt-Jakob disease? ›

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

What organ does Creutzfeldt-Jakob disease affect? ›

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly worsening brain disorder that causes unique changes in brain tissue and affects muscle coordination thinking, and memory. There are about 350 cases per year in the U.S. The two main symptoms of CJD are: Severe mental deterioration and dementia.

Can stress bring on CJD? ›

Further data indicated that stressful events seem to influence not only the onset of CJD but also the progression of the disease.

How do you test for Creutzfeldt-Jakob disease? ›

The only way to confirm a diagnosis of CJD is to examine the brain tissue by carrying out a brain biopsy or, more commonly, after death in a post-mortem examination of the brain.

Is Creutzfeldt-Jakob disease a parasite? ›

What causes CJD? The cause of CJD is believed to be a prion, an abnormal protein that can occur in certain types of nervous system tissue. CJD is not caused by a bacteria, virus, or parasite.

What age does familial CJD start? ›

Onset of the disease generally occurs between the ages of 35 and 55. Fatal Familial Insomnia (FFI)- is an extremely rare prion disease that affects the thalamus and interferes with the ability to sleep. The disease can occur spontaneously or as a result of an inherited genetic mutation.

What are the end stages of Creutzfeldt-Jakob disease? ›

In the final stage, patients lose all mental and physical function and may lapse into a coma. Many patients die from an infection such as pneumonia. The average duration of disease — from the onset of symptoms to death — is four to six months. Ninety percent of patients die within a year.

How long does it take for CJD to develop? ›

Patients with CJD eventually lose the ability to talk, walk, and take care of themselves. The disease progresses rapidly and most patients with CJD die within one year of illness onset. How soon after exposure do symptoms appear? It can take 15 months–30 years or more for symptoms to appear.

How common is Creutzfeldt-Jakob disease? ›

This sporadic disease occurs worldwide, including the United States, at a rate of roughly 1 to 2 cases per 1 million population per year. The risk of CJD increases with age; the 2016–2020 average annual rate in the United States was about 5 cases per million in persons 55 years of age or older.

Videos

1. Creutzfeldt–Jakob disease (CJD)
(Neuro-Ophthalmology with Dr. Andrew G. Lee)
2. What do we think causes Sporadic CJD?
(CJD Foundation)
3. What do we think might cause Sporadic CJD?
(CJD Foundation)
4. Diagnosis And Caregiving For CJD Patients
(CJD Foundation)
5. Creutzfeldt-Jakob Disease Case: A Brain Attacked By Abnormal Proteins | Extraordinary Brains #3
(Psyched!)
6. Confronting CJD & other Prion Disoders
(Creutzfeldt Jakob)

References

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