Creutzfeldt-Jakob Disease


Overview:

Creutzfeldt-Jakob Disease (CJD)  is one of the most rare neurodegenerative disorders. It is a progressive disease that occurs in one in a million people, and advances more rapidly than other neurodegenerative disorders such as Alzheimer’s and Parkinson’s. It is caused by an abnormal form of the prion protein (due to misfolding). The age of onset is around 60 years of age, and patients with this disease have rapid brain deterioration within one year of onset. 


Symptoms:

In the initial stages, individuals with CJD will have problems with muscle movement, personality, and vision. As the disease progresses, the individual will start to experience memory problems, will lose the ability to speak and eventually enter into a comma. It is important to look out for signs of CJD so that you can get help for your loved one as soon as possible.


The most common symptoms include:

  • Impaired Judgement: Individuals affected by the disorder will have challenges making decisions. For example, individuals may experience difficulties with financial decisions or may not act appropriately in a public setting.

  • Difficulty Speaking: Individuals with CJD will have trouble forming words and conveying their ideas in a clear manner. This can make providing care for them a very difficult task as they will not be able to express their needs.

  • Depression: Individuals with CJD do experience memory loss and have difficulty speaking. This makes communicating with others a challenging task and may lead to the individual isolating themselves. This is extremely detrimental to the individual’s overall well-being. Caregivers should allow individuals with CJD to have ample human interaction and have them socially engaged whenever possible.

Spongiform Encephalopathy:

CJD causes spongiform encephalopathy. Patients who experience this condition will have healthy brain tissues degenerate in the brain. This is caused by a build up of mutated prion proteins (proteins which are most often found in the cell membrane of neurons) in nerve cells. Prion proteins that get folded in the wrong manner turn into prions (a mutated form of the protein). When prions enter the cell membrane of neurons, they cause prion proteins that are present in the cell to degenerate into prions as well. Prions are resistant to proteases: an enzyme that is responsible for eliminating misfolded proteins in nerve cells. This leads to apoptosis, otherwise known as “programmed cell death”. As prions spread into more nerve cells, the rate of apoptosis increases; within one year, most nerve cells in the brain completely deteriorate.


All four types of CJD causes spongiform encephalopathy.


Types of CJD: 

  • Sporadic CJD: This is the most common form of CJD. The causes of this form are not yet identified by the scientific community; however, there is evidence that a mutation in the PRNP (gene responsible for encoding prion proteins) gene may cause it.

  • Familial CJD: This form of CJD  is caused by a mutation in the PRNP gene.

  • Iatrogenic CJD: This form of CJD is caused due to a fault in medical procedures. Infected equipment used medical processes lead to healthy individuals developing the disorder.

  • Variant CJD: This form of CJD is caused when individuals eat beef, or any type of cow meat, that contains prions in its tissues. The human body absorbs these prions through the intestines and in turn, they get absorbed into the bloodstream. These prions then cross the blood brain barrier through adsorptive endocytosis (a process where the plasma membrane allows cells that would usually be blocked from entering the blood brain barrier to enter) and attack nerve cells.

Treatment:

Currently, there is no treatment available that can slow down the progression of CJD, or cure it. However, there are opiate drugs available that are designed to help with pain relief and control involuntary muscle movement. Consult with a doctor before testing these medications to find a treatment that is right for the patient. Besides the use of drugs to help relieve pain, treatment is aimed at providing support for the individual suffering from CJD. This includes helping them out with day to day tasks, hiring an in-home caregiver or moving this individual to a memory care facility. In the end, it matters that the individual affected by CJD is content and has all their needs met.

References:

https://www.mayoclinic.org/diseases-conditions/creutzfeldt-jakob-disease/symptoms-causes/syc-20371226

https://www.youtube.com/watch?v=dXcLb4oCYfg

https://www.cdc.gov/prions/cjd/index.html

https://www.ninds.nih.gov/Disorders/All-Disorders/Creutzfeldt-Jakob-Disease-Information-Page

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*All content on this site is meant for information purposes only. Information provided should not susbtitute professional medical advice.

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