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Creutzfeldt-jakob Disease

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Description: Creutzfeldt-Jakob Disease (CJD) is a rare, degenerative, and fatal brain disorder characterized by rapid cognitive decline and neurological impairment caused by prion proteins.
Type: Creutzfeldt-Jakob Disease (CJD) is a type of prion disease. The genetic transmission of CJD, in its familial form, follows an autosomal dominant pattern. This means that a mutation in just one of the two copies of the relevant gene (PRNP) can cause the disease to develop.
Signs And Symptoms: The first symptom of CJD is usually rapidly progressive dementia, leading to memory loss, personality changes, and hallucinations. Myoclonus (jerky movements) typically occurs in 90% of cases, but may be absent at initial onset. Other frequently occurring features include anxiety, depression, paranoia, obsessive-compulsive symptoms, and psychosis. This is accompanied by physical problems such as speech impairment, balance and coordination dysfunction (ataxia), changes in gait, and rigid posture. In most people with CJD, these symptoms are accompanied by involuntary movements. The duration of the disease varies greatly, but sporadic (non-inherited) CJD can be fatal within months or even weeks. Most affected people die six months after initial symptoms appear, often of pneumonia due to impaired coughing reflexes. About 15% of people with CJD survive for two or more years.The symptoms of CJD are caused by the progressive death of the brain's nerve cells, which are associated with the build-up of abnormal prion proteins forming in the brain. When brain tissue from a person with CJD is examined under a microscope, many tiny holes can be seen where the nerve cells have died. Parts of the brain may resemble a sponge where the prions were infecting the areas of the brain.
Prognosis: The condition is universally fatal. As of 1981, no one was known to have lived longer than 2.5 years after the onset of CJD symptoms. In 2011, Jonathan Simms, a Northern Irish man who lived 10 years after his diagnosis, was reported to be one of the world's longest survivors of variant Creutzfeldt–Jakob disease (vCJD).
Onset: Creutzfeldt-Jakob Disease (CJD) has an onset that typically occurs in later adulthood, with most cases appearing around the age of 60.
Prevalence: The prevalence of Creutzfeldt-Jakob Disease (CJD) is about 1 to 2 cases per million people per year, making it a rare but uniformly fatal neurodegenerative disorder.
Epidemiology: CDC monitors the occurrence of CJD in the United States through periodic reviews of national mortality data. According to the CDC:
CJD occurs worldwide at a rate of about 1 case per million population per year.
On the basis of mortality surveillance from 1979 to 1994, the annual incidence of CJD remained stable at approximately 1 case per million people in the United States.
In the United States, CJD deaths among people younger than 30 years of age are extremely rare (fewer than five deaths per billion per year).
The disease is found most frequently in people 55–65 years of age, but cases can occur in people older than 90 years and younger than 55 years of age.
In more than 85% of cases, the duration of CJD is less than one year (median: four months) after the onset of symptoms.Further information from the CDC:
Risk of developing CJD increases with age.
CJD incidence was 3.5 cases per million among those over 50 years of age between 1979 and 2017.
Approximately 85% of CJD cases are sporadic and 10-15% of CJD cases are due to inherited mutations of the prion protein gene.
CJD deaths and age-adjusted death rate in the United States indicate an increasing trend in the number of deaths between 1979 and 2017.Although not fully understood, additional information suggests that CJD rates in African American and nonwhite groups are lower than in whites. While the mean onset is approximately 67 years of age, cases of sCJD have been reported as young as 17 years and over 80 years of age. Mental capabilities rapidly deteriorate and the average amount of time from onset of symptoms to death is 7 to 9 months.According to a 2020 systematic review on the international epidemiology of CJD:
Surveillance studies from 2005 and later show the estimated global incidence is 1–2 cases per million population per year.
Sporadic CJD (sCJD) incidence increased from the years 1990–2018 in the UK.
Probable or definite sCJD deaths also increased from the years 1996–2018 in twelve additional countries.
CJD incidence is greatest in those over the age of 55 years old, with an average age of 67 years old.The intensity of CJD surveillance increases the number of reported cases, often in countries where CJD epidemics have occurred in the past and where surveillance resources are greatest. An increase in surveillance and reporting of CJD is most likely in response to BSE and vCJD. Possible factors contributing to an increase of CJD incidence are an aging population, population increase, clinician awareness, and more accurate diagnostic methods. Since CJD symptoms are similar to other neurological conditions, it is also possible that CJD is mistaken for stroke, acute nephropathy, general dementia, and hyperparathyroidism.
Intractability: Yes, Creutzfeldt-Jakob disease (CJD) is considered intractable. There is currently no cure for CJD, and treatment focuses on alleviating symptoms and providing supportive care. The disease progresses rapidly and is invariably fatal.
Disease Severity: Creutzfeldt-Jakob disease (CJD) is a rare and fatal degenerative brain disorder. The severity of CJD is extremely high, as it rapidly progresses, leading to severe neurological damage and ultimately death, typically within a year of onset. There is currently no cure or effective treatment for CJD.
Healthcare Professionals: Disease Ontology ID - DOID:11949
Pathophysiology: Creutzfeldt-Jakob Disease (CJD) is a rare, degenerative, and invariably fatal neurological disorder. The pathophysiology of CJD involves the accumulation of abnormal, misfolded prion proteins in the brain. These prions are infectious agents that cause normal, cellular prion proteins (PrP^C) to refold into a toxic form (PrP^Sc). This leads to the formation of clumps and plaques in the brain tissue, causing neuronal cell death, spongiform changes (characterized by the appearance of holes in brain tissue, giving it a sponge-like appearance), and a rapid decline in cognitive and motor functions. There is currently no cure or effective treatment for CJD, and it progresses rapidly, often leading to death within a year of onset.
Carrier Status: Creutzfeldt-Jakob Disease (CJD) does not have a carrier status as it is not inherited in a typical carrier state like some other genetic disorders. CJD is caused by misfolded prion proteins and can occur sporadically, be inherited in an autosomal dominant pattern, or be acquired through infected tissue (e.g., contaminated medical instruments).
Mechanism: Creutzfeldt-Jakob Disease (CJD) is a rare, degenerative, and fatal brain disorder caused by abnormally folded proteins known as prions.

1. **Mechanism**: The mechanism involves the transformation of normal prion proteins (PrPc) into abnormal, misfolded forms (PrPSc). These abnormal prions then induce other normally folded prion proteins to misfold, leading to a chain reaction.

2. **Molecular Mechanisms**:
- **Protein Misfolding**: PrPSc acts as a template, inducing PrPc to adopt the altered conformation.
- **Aggregation**: Misfolded PrPSc proteins aggregate into amyloid plaques, which disrupt normal brain tissue.
- **Neurotoxicity**: The accumulation of PrPSc leads to neuronal cell death, spongiform degeneration, and gliosis (proliferation of glial cells), resulting in the rapid decline of cognitive and motor functions.

These molecular events ultimately cause the characteristic symptoms of CJD, including dementia, motor dysfunction, and other neurological deficits.
Treatment: Pentosan polysulphate (PPS) was thought to slow the progression of the disease, and may have contributed to the longer than expected survival of the seven people studied. The CJD Therapy Advisory Group to the UK Health Departments advises that data are not sufficient to support claims that pentosan polysulphate is an effective treatment and suggests that further research in animal models is appropriate. A 2007 review of the treatment of 26 people with PPS finds no proof of efficacy because of the lack of accepted objective criteria, but it was unclear to the authors whether that was caused by PPS itself. In 2012 it was claimed that the lack of significant benefits has likely been caused because of the drug being administered very late in the disease in many patients.
Use of RNA interference to slow the progression of scrapie has been studied in mice. The RNA blocks production of the protein that the CJD process transforms into prions.
Both amphotericin B and doxorubicin have been investigated as treatments for CJD, but as yet there is no strong evidence that either drug is effective in stopping the disease. Further study has been taken with other medical drugs, but none are effective. However, anticonvulsants and anxiolytic agents, such as valproate or a benzodiazepine, may be administered to relieve associated symptoms.
Quinacrine, a medicine originally created for malaria, has been evaluated as a treatment for CJD. The efficacy of quinacrine was assessed in a rigorous clinical trial in the UK and the results were published in Lancet Neurology, and concluded that quinacrine had no measurable effect on the clinical course of CJD.
Astemizole, a medication approved for human use, has been found to have anti-prion activity and may lead to a treatment for Creutzfeldt–Jakob disease.
A monoclonal antibody (code name PRN100) targeting the prion protein (PrP) was given to six people with Creutzfeldt–Jakob disease in an early-stage clinical trial conducted from 2018 to 2022. The treatment appeared to be well-tolerated and was able to access the brain, where it might have helped to clear PrPC. While the treated patients still showed progressive neurological decline, and while none of them survived longer than expected from the normal course of the disease, the scientists at University College London who conducted the study see these early-stage results as encouraging and suggest to conduct a larger study, ideally at the earliest possible intervention.
Compassionate Use Treatment: Creutzfeldt-Jakob Disease (CJD) is a rare and fatal neurodegenerative disorder. There is currently no cure or standard treatment to stop the progression of CJD, but experimental treatments and compassionate use options may be considered:

1. **Experimental Treatments**:
- **Pentosan Polysulfate (PPS)**: This drug has shown some promise in animal models, but its efficacy and safety in humans are not well established. It is sometimes used on a compassionate basis.
- **Doxycycline**: This antibiotic has been investigated for its potential neuroprotective properties in CJD, but clinical trials have shown mixed results.
- **PRN100**: This is a monoclonal antibody targeting the prion protein, which has been under investigation but remains experimental.

2. **Compassionate Use Treatments**:
- In exceptional cases, patients may be granted access to experimental therapies through compassionate use programs. These programs allow the use of unapproved treatments when no other alternatives are available, typically for individuals with serious or life-threatening conditions.

Each of these treatments requires careful consideration and consultation with healthcare professionals, given the experimental nature and potential risks involved.
Lifestyle Recommendations: Creutzfeldt-Jakob Disease (CJD) is a rare, degenerative, and fatal brain disorder. There are no specific lifestyle recommendations for preventing or managing CJD due to its nature. The disease is caused by abnormal proteins called prions, which are not influenced by lifestyle factors. If you suspect someone might have CJD, it is essential to seek prompt medical advice for appropriate diagnosis and management. Practicing general brain health by avoiding head injuries and staying mentally active can contribute to overall brain well-being, but these measures do not specifically prevent CJD.
Medication: Creutzfeldt-Jakob Disease (CJD) currently has no known cure or specific treatment. Management focuses on alleviating symptoms and providing supportive care to maintain quality of life. Medications may be used to relieve pain, manage muscle spasms, and control other symptoms, but they do not slow the progression of the disease.
Repurposable Drugs: Creutzfeldt-Jakob Disease (CJD) is a rare and fatal neurodegenerative condition caused by abnormal prion proteins. As of now, there are no approved treatments specifically for CJD. Some drugs have been investigated for their potential to be repurposed to treat CJD, including:

1. **Quinacrine**: Initially used as an antimalarial drug, it has shown some promise in vitro for its ability to inhibit prion accumulation.
2. **Pentosan Polysulfate**: An anticoagulant, it has been studied for direct infusion into the brain to slow disease progression.
3. **Flupirtine**: Originally a pain medication, it has shown neuroprotective properties in laboratory models.
4. **Doxycycline**: An antibiotic, it has been researched for its potential to delay progression through anti-prion activity.

These drugs have not yet demonstrated definitive efficacy in clinical trials for CJD, and further research is required to establish their potential benefits and safety for patients.
Metabolites: In Creutzfeldt-Jakob Disease (CJD), there is no specific metabolite directly associated with or indicative of the disease. CJD is a prion disease characterized by the accumulation of abnormal prion proteins in the brain, which leads to neurodegeneration. Metabolite profiling in this context might focus on biomarkers or changes in brain chemistry due to the disease. However, the primary pathological hallmark remains the prion protein misfolding rather than specific metabolic abnormalities.
Nutraceuticals: There is no evidence to support the efficacy of nutraceuticals in treating or preventing Creutzfeldt-Jakob Disease (CJD). CJD is a rare, degenerative, and fatal brain disorder caused by prion proteins that fold abnormally. Nutraceuticals, which are food-derived products with health benefits, do not target the underlying mechanisms of prion diseases and have not been shown to modify the course of CJD.
Peptides: Creutzfeldt-Jakob Disease (CJD) is not directly associated with peptides in its common discussion, nor with the term "nan." CJD is a rare, degenerative, and fatal brain disorder caused by abnormal prion proteins that lead to brain damage. Prions are misfolded proteins that induce other normal proteins to also misfold, leading to the disease. If "nan" refers to a specific technology or particle, such as nanoparticles, there is no widely recognized or established treatment or diagnostic method for CJD involving such entities as of now.