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Creutzfeldt Jakob Disease (CJD) is a prion disease that affects humans. Prion illnesses, often known as TSEs (Transmissible Spongiform Encephalopathies), are a series of deadly brain disorders that afflict both animals and humans. CJD is a neurodegenerative disease with distinct clinical and diagnostic characteristics. This illness progresses quickly and is usually fatal. Infection with this disease typically results in death within a year of the commencement of symptoms. CJD is found all throughout the world, with a yearly incidence of roughly one case per million people in several nations, including the United States.
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Key Takeaways: Prion, Neurodegenerative, Blood Transfusion, Pituitary Gland, Cerebrospinal Fluid, Antidepressants, Incubation Period, Dementia, Diseases, MRI Scan, Tonsil Biopsy
Types of Creutzfeldt-Jakob Disease (CJD)
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There are four types of CJD:
- Sporadic CJD
- Variant CJD
- Familial or Inherited CJD
- Iatrogenic CJD
Given below is the detailed information on each type of Creutzfeldt-Jakob Disease.
Sporadic CJD
- The most common kind of CJD is sporadic CJD. The exact cause of sporadic CJD is unknown, although it's thought that a normal brain protein "misfolds" and becomes a prion.
- Adults aged 45 to 75 are the most common victims of sporadic CJD. Symptoms appear between the ages of 60 and 65 on average, and they appear quickly. The length of time it takes for the disease to progress is generally expressed as months.
- Despite being the most frequent form of CJD, sporadic CJD is nevertheless uncommon, affecting about 1 or 2 people in a million each year.
Variant CJD
- Consumption of meat from a cow with bovine spongiform encephalopathy (BSE, or "mad cow" disease), a related prion illness to CJD, is likely to develop variant CJD (vCJD). Psychiatric, neurological, and physical problems coexist.
- However, the average time it takes for variant CJD symptoms to appear after the first infection (the incubation period) is still unknown.
- Because the incubation period for variant CJD may be quite long (up to ten years) in certain people, those who were exposed to infected meat before the food restrictions were established may still get the disease.
- Blood transfusions can potentially transfer the prion that causes variant CJD.
Familial or Inherited CJD
- Familial CJD is an extremely uncommon genetic illness in which one of a person's parents’ genes (the prion protein gene) has a mutation that causes prions to grow in their brain during maturity, resulting in CJD symptoms.
- It affects around one in every nine million people.
- In most cases, the symptoms of familial CJD appear in people in their early 50s.
Iatrogenic CJD
- Iatrogenic CJD occurs when a person with CJD is inadvertently infected while receiving medical or surgical care.
- Growth hormone therapy with human pituitary growth hormones derived from deceased persons, some of whom were infected with CJD, was a prevalent source of iatrogenic CJD in the past.
- Instruments used during brain surgery on a person with CJD that are not thoroughly cleaned between each surgical procedure and are reused on another person might cause iatrogenic CJD.
- CJD caused by iatrogenic factors is currently extremely rare.
Read More: Human Diseases
Symptoms of CJD
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Despite the fact that sporadic TSE encompasses five separate subtypes of sporadic CJD and sporadic fatal insomnia, they are all marked by the fast progression of dementia.
- Individuals first encounter motor coordination issues, psychological changes (including poor memory, judgement, and reasoning), and visual impairments.
- In addition, people with the condition, particularly those with FFI, may have sleeplessness, sadness, or strange feelings. People's mental impairment worsens as the illness develops.
- They frequently develop myoclonus or uncontrollable muscular twitches, and they may go blind.
- They lose their capacity to move and communicate and go into a coma.
- Pneumonia and other infections are common in these people, and they can be fatal.
- Variant CJD is characterized by the start of mental symptoms, affects younger people than other varieties of CJD, and lasts longer than other types of CJD.
- Some CJD symptoms are comparable to those of other degenerative neurological illnesses, including Alzheimer's disease and Huntington's disease.
- CJD, on the other hand, produces distinct alterations in brain tissue that may be observed at autopsy. It also causes a person's abilities to deteriorate at a faster rate than Alzheimer's disease or most other kinds of dementia.
Here are the key symptoms of CJD:
- Reduced memory and intelligence
- Personality changes
- Loss of body balance and reduction in coordination
- Slurred speech
- Low vision
- Gradual loss of brain function and movement
- Dizziness
- Numbness in different body parts
- Hallucinations
- Depression
- Insomnia
Causes of CJD
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CJD appears to be caused by a prion, which is an aberrant infectious protein. These prions build up in the brain in excessive quantities, causing irreparable nerve cell damage.
While aberrant prions are technically contagious, they are not the same as viruses or bacteria. Prions, for example, are unaffected by the extremes of heat and radiation used to kill bacteria and viruses, and they are unaffected by antibiotics or antiviral treatments.
Transmission of CJD
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CJD is a low-risk disease. Coughing or sneezing, touching, or sexual contact cannot spread the illness. CJD can manifest itself in three ways:
- Sporadically: The majority of people who have typical CJD get the disease for no obvious cause. This type, known as spontaneous CJD or sporadic CJD, accounts for the majority of cases.
- By inheritance: Fewer than 15% of patients with CJD have a family history of the illness or test positive for a CJD-related genetic mutation. This form is known as familial CJD.
- By contamination: CJD has been diagnosed in a limited number of people who were exposed to contaminated human tissue during a medical treatment such as a cornea or skin transplant. Furthermore, because typical cleaning techniques do not eradicate aberrant prions, a few people have gotten CJD after having brain surgery with infected tools. A limited number of people have also contracted the sickness after consuming tainted meat.
Read More: Difference between Bacteria And Virus
Diagnosis of CJD
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Several tests can be used to help diagnose CJD which have been expressed below:
- Electroencephalography (EEG): Captures the electrical pattern of the brain, can be very useful since it identifies a specific sort of dysfunction insignificant but not all cases of CJD.
- MRI Scan: This imaging technology creates cross-sectional pictures of the head and body by using radio waves and a magnetic field. Because of its high-resolution scans of the brain's white and grey matter, it's extremely valuable in identifying brain problems.
- Spinal Fluid Tests: In this, cerebral spinal fluid surrounds and cushions the brain and spinal cord. A lumbar puncture, often known as a spinal tap, is a test in which doctors use a needle to extract a tiny quantity of this fluid for examination. This test is frequently used to rule out other neurological illnesses, although elevated levels of particular proteins found in the brain may suggest CJD.
- Tonsil Biopsy: A tiny piece of tissue from the tonsils can be removed and tested for the aberrant prions prevalent in variant CJD (they are not detected in other varieties of CJD).
- Genetic Test: A simple blood test to determine whether you have a mutation (defect) in the gene that makes normal protein; a positive result may suggest familial (inherited) prion disease.
Treatment of CJD
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There is no known cure for Creutzfeldt-Jakob disease (CJD), however, clinical trials are being conducted at the National Prion Clinic to look at potential therapies.
At the moment, therapy consists of attempting to keep the patient as comfortable as possible while also lowering symptoms using medications. For example, sedatives and antidepressants can be used to treat psychological symptoms of CJD, such as anxiety and depression, while muscular jerks or tremors can be treated with medications such as clonazepam and sodium valproate.
If pain develops, opiate medicines can assist relieve it, and the drugs clonazepam and sodium valproate may help relieve myoclonus. Intravenous fluids and artificial nutrition may be employed in the latter stages of the disease.
Read More: Human Health and Diseases
Things to Remember
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- CJD is a deadly brain illness that affects only a small percentage of the population. It causes progressive brain damage that increases over time.
- The majority of people with CJD will die within a year after the onset of symptoms, which are mainly caused by infection.
- CJD appears to be caused by a prion, which is an abnormal infectious protein.
- There is currently no cure for CJD, therefore therapy focuses on relieving symptoms and making the patient as comfortable as possible.
- CJD is typically diagnosed based on medical history, symptoms, and a battery of tests.
Sample Questions
Ques. How does a person get CJD? (3 Marks)
Ans. CJD appears to be caused by a prion, which is an aberrant infectious protein. These prions build up to dangerous quantities in the brain, causing irreparable damage to nerve cells. While aberrant prions are technically contagious, they are not the same as viruses or bacteria.
It can even be passed down through families or be contaminated. The condition is caused by a genetic mutation in people who have familial CJD. To develop familial CJD, a child must inherit one copy of the defective gene from either parent. If you have the mutation, you have a 50% chance of passing it on to your offspring.
Ques. What effects does CJD have on humans? (3 Marks)
Ans. Creutzfeldt-Jakob disease (CJD) is an extremely uncommon neurodegenerative disorder. It has a negative impact on the brain. CJD eventually damages brain cells and causes small holes in the brain to appear. CJD patients have trouble managing their bodily motions, abnormalities in gait and speech, and dementia. Coordination and muscular control issues deteriorate as the illness advances. The vision, as well as their ability to move and communicate, will deteriorate with time, and they will eventually go into a coma.
Ques. Is CJD curable? (3 Marks)
Ans. There is no known cure for Creutzfeldt-Jakob disease (CJD), however, clinical trials are being conducted at the National Prion Clinic to look at potential therapies. At the moment, therapy consists of attempting to keep the patient as comfortable as possible while also lowering symptoms using medications.
Opiate medications can aid with pain relief. Clonazepam and sodium valproate may also aid with involuntary movements like muscular twitching. A caregiver will reposition the client regularly in the later stages to help avoid bedsores. A catheter will drain the person's urine, and nutrients will be administered intravenously.
Ques. What is inherited CJD? (3 Marks)
Ans. Inherited CJD is an extremely uncommon genetic disorder in which one of the genes a person gets from their parents (the prion protein gene) contains a mutation that causes prions to grow in their brain during maturity, resulting in CJD symptoms. People in their early 50s are most likely to develop signs of familial CJD.
Ques. How to diagnose CJD? (5 Marks)
Ans. Only a brain biopsy or an autopsy examination of brain tissue after death can establish the existence of Creutzfeldt-Jakob disease (CJD). However, based on your medical and personal history, a neurological exam, and specific diagnostic tests, doctors can frequently establish an accurate diagnosis. These tests are frequently used by doctors to help in the detection of CJD:
- EEG: Using electrodes inserted on the scalp, this test monitors the electrical activity of the brain. People with CJD have a distinctively aberrant pattern.
- MRI: This imaging technique creates cross-sectional pictures of the head and body by using radio waves and a magnetic field. Because of its high-resolution scans of the brain's white and grey matter, it's extremely valuable in identifying brain problems.
- Lumbar puncture: It is a process in which a needle is placed into the lower section of the spine to extract a sample of cerebrospinal fluid (the fluid that surrounds your brain and spinal cord) to be tested for a specific protein that suggests you may have CJD.
- Tonsil biopsy: A tiny sample of tissue from the tonsils can be removed and tested for the aberrant prions prevalent in variant CJD (they are not identified in other kinds of CJD).
- Genetic test: It is a simple blood test to determine if you have a mutation (defect) in the gene that codes for a normal protein; a positive result may suggest familial (inherited) prion disease.
Ques. What is sporadic CJD? (3 Marks)
Ans. Sporadic CJD is the most prevalent kind of CJD. The exact cause of sporadic CJD is unknown, however, it has been proposed that a normal brain protein alters abnormally and transforms into a prion. The majority of sporadic CJD cases occur in people between the ages of 45 and 75. Symptoms usually appear between the ages of 60 and 65.
Ques. What are the symptoms of CJD? (5 Marks)
Ans. CJD symptoms include:
- mental and memory impairment
- Personality changes, loss of balance and coordination, slurred speech, visual issues, blindness
- irregular jerking motions
- Progressive deterioration of brain function and mobility
The symptoms of sporadic CJD mostly impact the nerve system's functioning (neurological symptoms), and these symptoms develop significantly over a few months.
Invariant CJD symptoms affecting a person's behaviour and emotions (psychological symptoms) are frequently the first.
Familial CJD follows the same pattern as sporadic CJD, although the symptoms generally take longer to develop - usually about 2 years, rather than a few months.
Iatrogenic CJD has an unexpected pattern since it is determined by how a person was exposed to the infectious protein (prion) that causes CJD.
Ques. How to prevent CJD? (5 Marks)
Ans. Although Creutzfeldt-Jakob disease (CJD) is extremely rare, it might be difficult to avoid.
- This is due to the fact that the majority of cases arise spontaneously for unknown reasons (sporadic CJD), whereas some are caused by an inherited genetic flaw (familial CJD).
- Sterilization procedures used to assist prevent the spread of germs and viruses are likewise ineffective against the infectious protein (prion) that causes CJD.
- However, due to stricter limits on the reuse of surgical equipment, incidences of CJD disseminated by medical treatment (iatrogenic CJD) are currently extremely rare.
- There are also safeguards in place to prevent variant CJD from spreading through the food chain and the blood supply used for transfusions.
Ques. What are the types of CJD? (5 Marks)
Ans. CJD is classified into four types:
- Sporadic CJD: In this case, the sickness manifests itself in a person for unclear reasons (s). This is the most common type of CJD, accounting for around 85 per cent of all cases.
- Inherited CJD: There is a family history of the illness in this case. Hereditary CJD accounts for 10 to 15% of all cases.
- Acquired CJD: In this case, CJD is caused by an infection after a surgical treatment or by consuming the flesh of an infected animal. Acquired CJD accounts for fewer than 1% of all CJD cases.
- Iatrogenic CJD: It occurs when an infection is transferred unintentionally from a person with CJD during the medical or surgical treatment.
Ques. How long can someone live with CJD? (3 Marks)
Ans. The majority of patients die between 4 months to 2 years. Electroencephalography, cerebrospinal fluid studies, and magnetic resonance imaging are frequently used to confirm the diagnosis. There is no cure, however, medications can alleviate some of the symptoms.
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