Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob disease is a variant of transmissible spongiform encephalopathies or Prion diseases. Prion diseases are characterized by the deposition of PrPSc, an abnormally misfolded isoform of the normal prion protein, within the nervous system leading to the formation of clumps or deposits of abnormal proteins. These cause damage to brain cells and lead to the characteristic symptoms of Creutzfeldt-Jakob disease.

Sporadic Creutzfeldt-Jakob disease is the commonest human prion disease, accounting for around 85% of cases. Variant Creutzfeldt-Jakob disease is a novel human prion disease that occurs predominantly in the UK and has been linked to the consumption of beef products contaminated with the agent of the cattle disease, bovine spongiform encephalopathy.

Accumulation of this abnormal prion protein leads to neuronal degeneration. The disease progresses very fast and 90% of patients die within a year of symptom onset. Old age group people are more affected. The patients with Creutzfeldt-Jakob disease present with Rapid cognitive decline, Ataxia, and Myoclonus.

Creutzfeldt-Jakob disease is a very rare disease that causes death in almost all affected patients. The diagnosis can be done on the MRI findings. There is no cure for the disease and no treatments help to stop the progression. Supportive treatment can be done

Creutzfeldt-Jakob Disease: Causes

Several factors are known to cause CJD that include −

• Mutation in the prion gene that is isomerization of the native prion gene causing abnormal protein developing the clumps is the main cause of the development of the disease

• Genetics plays an important role. It transferred from generation to generation by autosomal dominance affecting 50% of the children of the affected parent

• Sporadic type of Creutzfeldt-Jakob disease is the most common form of Creutzfeldt-Jakob disease, which occurs spontaneously and is not thought to be caused by any environmental or genetic factors.

• Exposure to infected brain or nervous system tissue, either through medical procedures such as a contaminated surgical instrument or corneal transplant or by consuming contaminated meat products from cows with bovine spongiform encephalopathy.

• Variant Creutzfeldt-Jakob disease occurs due to the consumption of contaminated beef products from cows with BSE. Variant Creutzfeldt-Jakob disease is different from other forms of Creutzfeldt-Jakob disease in that it affects younger individuals and has a longer disease course.

Creutzfeldt-Jakob Disease: Symptoms

The patient with Creutzfeldt-Jakob disease presents with the following symptoms −

• The patient with Creutzfeldt-Jakob disease mainly presents with intellectual disabilities often involving changes in memory, thinking, and behavior. The patient may present with difficulty in concentrating, confusion, personality changes, and problems with language.

• Seizure attack which is a common symptom present in these patients

• Muscle stiffness, jerky movements, tremors, and difficulty coordinating movements can occur

• Sleep disturbances such as changes in sleep patterns, including difficulty falling asleep, restless sleep, and increased daytime sleepiness.

• Sensory changes such as numbness or tingling in the arms and legs or a loss of sensation

• Some patients may present with visual disturbances, such as blurred vision, double vision, or vision loss.

• Speech issues such as slurred speech or difficulty with articulation.

• In severe cases the patient with severe memory loss, disorientation, and confusion.

Creutzfeldt-Jakob Disease: Risk Factors

Several factors play an important role in the development of Creutzfeldt-Jakob disease that include −

• More commonly affect people above 60 of age.

• A person with a family history of Creutzfeldt-Jakob disease is at increased risk. It is an autosomal condition that transfers the disease to 50% of the children in the next generation.

• Exposure to contaminated tissue or products through medical procedures or consumption of contaminated meat products.

• Occupations such as laboratory workers who handle prion-infected tissue or meat processing workers are at increased risk.

• Neurosurgical procedures such as deep brain stimulation or implantation of electrodes in the brain.

• Transmission through blood transfusions from infected donors.

Creutzfeldt-Jakob Disease: Diagnosis

The diagnosis of Creutzfeldt-Jakob disease is based on the investigations as various neurological disorders present with similar complaints and require various tests to rule out these. Diagnosis of CJD includes −

• History of symptoms and family history should be asked for

• Cranial nerve examination should be done

• Neurological and cognitive tests to assess brain function, such as assessing reflexes, coordination, and mental status.

• Electroencephalogram is advised to look for the electrical activity of the brain. Specific patterns of abnormal brain waves that are characteristic of the disease can be shown on EEG.

• Imaging tests such as CT and MRI help to diagnose the condition. MRI can detect the condition in the early stages

• Lumbar puncture is done to collect a sample of cerebrospinal fluid, on testing this shows may show elevated levels of certain proteins associated with the disease.

• Biopsy of the brain tissue may be required to confirm a diagnosis of Creutzfeldt-Jakob disease in some patients

Creutzfeldt-Jakob Disease: Treatment

There is no specific treatment for Creutzfeldt-Jakob disease (Creutzfeldt-Jakob disease), and treatment aims at symptomatic treatment and supportive care that includes −

• Painkillers can be given to reduce the associated pain

• Certain medicines like antiepileptic drugs to reduce the seizure attack and anti-depressants can be given to reduce depression among these patients

• Patients with Creutzfeldt-Jakob disease may have difficulty eating or swallowing and may require nutritional support such as feeding tubes to ensure that they receive adequate nutrition.

• Emotional support should be provided to the patient by the family members as well as the hospital

Creutzfeldt-Jakob Disease: Prevention

There are no preventive measures present to reduce the risk of occurrence of Creutzfeldt-Jakob disease, but some of the measures can help to some extent that includes −

• Genetic counseling in the family with a history of Creutzfeldt-Jakob disease can help the members know about their generations getting the disease

• Avoid consuming meat from infected animals

• Infection control should be followed properly in the hospitals

• Screening of blood donors before the blood transfusion

• Laboratory workers who handle prion-infected tissue should follow proper safety protocols to avoid exposure to the prion protein.

Conclusion

Creutzfeldt-Jakob disease is a medical condition that is transmissible and progresses rapidly resulting in the death of the affected person. It is a neurodegenerative disorder that is caused by the accumulation of abnormal prion protein in the neurons resulting in their spongiform degeneration due to the formation of clumps by these abnormal proteins. Various factors like genetics, environmental factors, and getting exposed to the affected person can make the individual acquire the disease.

The individual affected mainly presents with memory issues, seizure attacks, behavioral changes, sensory abnormalities, and muscle stiffness. The disease progresses very rapidly and causes death in most patients. The disease can be identified in the early stages on MRI. Other investigations may be required to rule out the other conditions causing similar complaints. A biopsy is used to confirm the diagnosis.

There is no cure for the disease and no specific preventive measures to reduce the risk of its occurrence. Treatment can be done to reduce the symptoms and as supportive care.