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Understanding Creutzfeldt-Jakob disease, CJD : A Closer Look at a Rare Brain Disorder

Creutzfeldt-Jakob disease, also known as CJD, is a rare, degenerative, and unfortunately fatal brain disorder. It is the most common cause of spongiform encephalopathy. CJD is classified as a prion disease. It is caused by the abnormal folding of proteins in the brain, called prions.



How CJD causes Spongiform Encephalopathy?


The central problem in CJD is the presence of abnormally shaped prion proteins. These misfolded prions are resistant to the body's natural enzymes that usually break down proteins. Even more critically, these abnormal prions can trigger nearby healthy proteins to misfold as well. This chain reaction leads to a buildup of prions inside neurons (brain cells), eventually causing the cells to die.


As the neurons are lost, they are replaced by empty vacuoles, or cysts, giving the brain a sponge-like appearance under a microscope, hence the term "spongiform encephalopathy."


The Four Types of CJD


  1. Sporadic CJD (sCJD)


This is the most common type of CJD, accounting for about 85% of cases. However, the cause of sporadic CJD is not clearly known yet. It is also known as Spontaneous CJD. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop between the ages of 60 and 65.


  1. Familial CJD (fCJD)


Also known as Inherited CJD or Genetic CJD. This type is caused by mutation in the PRNP gene, which encodes for prion proteins. This inherited mutation makes an individual susceptible to the disease. This type of CJD typically affects people at a younger age, generally under age 55. In rare cases, this can happen in a person’s 20s. There are two subtypes : Gerstmann-Sträussler-Scheinker (GSS) syndrome and fatal familial insomnia.


  1. Variant CJD (vCJD)


This type was first identified in the 1990s and is linked to consuming beef products from cattle affected by Bovine Spongiform Encephalopathy (BSE), commonly known as "Mad Cow Disease." Strict controls in the cattle industry and food safety practices are now in place to prevent infected meat from entering the food supply.

  1. Iatrogenic CJD (iCJD)


This type results from the accidental transmission of the disease from an infected person to a healthy one through exposure to infected brain or nervous system tissue. This can occur through certain medical procedures, such as corneal transplants or the use of contaminated surgical instruments during neurosurgery. Strict sterilization protocols have made such cases very rare today.


Recognizing The Symptoms of CJD


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. Symptoms are listed in order from early to late stages.



Prognosis, Management and Support


CJD is a fatal disease with a rapidly progressive course after symptoms begin. Most individuals with sporadic CJD pass away within a year of symptom onset. For those with the familial form, the survival time can range from one to ten years.


The cause of death is typically complications from medical issues associated with the disease such as having trouble swallowing, falls, heart issues, lung failure, pneumonia or other infections.


While there is currently no cure for CJD, care focuses on providing comfort and relieving symptoms such as medications for seizures, behaviour changes or uncontrollable muscle jerks. As the disease advances, hospice care is often recommended to ensure the highest quality of life and dignity. Given the profound impact of this diagnosis, mental health and emotional support for both the patient and their loved ones are strongly encouraged.


References




National Institute of Neurological Disorders and Stroke (2025) https://www.ninds.nih.gov/health-information/disorders/creutzfeldt-jakob-disease




Assessed and Endorsed by the MedReport Medical Review Board

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