CJD DISEASE

The brain is an amazing network of neurons. Nearly every task of a neuron is carried out by an army of proteins. Proteins are like a highly specialized working community. Very rarely, an error in the system can make a group of these proteins stop obeying commands and start a fatal rebellion that our brain and body cannot survive.
Today I will illustrate the rare Prion Disease, Creutzfeldt-Jakob Disease or CJD, from a Doctor’s Perspective. This is Anthony. Over the last three months, he rapidly developed a memory impairment. The disease first took away his short-term memory, but now Anthony functions almost like a baby who doesn’t know how to get dressed or how to use the toilet.
all of these cognitive symptoms indicate rapidly progressive dementia This is him who has got lost in his own garden. By the way, Did you notice a non-cognitive abnormality with Anthony? These quick involuntary jerky movements are called Myoclonus. Now let’s ask him to walk. Do you notice any abnormality? Yes, his gait is unsteady. We call it ataxia in medical vocabulary.
Rapidly progressive Dementia and Myoclonus are key symptoms of the Prion Disease called Creutzfeldt-Jakob Disease. Let’s have a close look at this Brain cell. Ribosomes are the factories that make Proteins. But to become fully functional, proteins have to fold into distinct shapes. Prions are a subgroup of cellular proteins.
After the folding, they travel to the cell membrane to perform their duties. They cause no harm as long as they are properly folded. Very rarely, due to some unknown reasons, prion proteins can be misfolded into an abnormal shape. Abnormal Prion Proteins act like brutal conquerors. Not only do they self-replicate, but also convert normal proteins into abnormal proteins in a chain reaction.
Accumulation of misfolded proteins leads to cell death. After killing one neuron, they spread to the nearby cells and infect them as well. There are four ways you can develop Creutzfeldt-Jakob Disease. -Around 80% of the CJD cases are sporadic, meaning that the abnormal prions were made without a known trigger.
Around 15% of the cases are familial, in which, a mutation in the Prion gene is inherited by the offspring. Iatrogenic CJD occurs when the infection is spread from one person to another through medical or surgical treatments. This reflects the fact that Prions are highly resistant to disinfection & sterilization.
Before 1985, when Artificial Growth Hormone was unavailable, children with growth hormone deficiency were treated with Hormones extracted from the pituitary glands of human corpses. Unfortunately, some of them went on to develop Iatrogenic CJD, later in their lives. The last form is called the Variant CJD.
It is caused by the same Prions that cause Mad-Cow Disease in cattle. Humans can get the Variant CJD when they consume food products infected with Prions. Human infection can be prevented by using strict public health measures. If you take a biopsy sample of the brain and observe it under a microscope you would see a sponge-like appearance with lots of vacuoles.
That is why this disease is also known as Spongiform Encephalopathy. But in real life, brain biopsies are not often conducted in living patients. Instead, doctors use clinical criteria to come to a diagnosis. Anthony’s first significant investigation was the EEG study. Doctors were able to detect abnormal electric signals from his Brain.
Then he was subjected to an MRI scan of the brain to detect abnormalities associated with the disease. And finally, Doctors performed a lumbar puncture by inserting a needle into his lower spine and took samples of cerebrospinal fluid or CSF. Prion Proteins in CSF can be detected by a special technique called "RT-QUIC". Detection of Prion proteins in CSF strongly indicates CJD.
There is another protein called 14-3-3. It is not a prion Protein, but it gets released into CSF in people with Creutzfeldt-Jakob Disease. Anthony’s health rapidly deteriorated in the next couple of months. He eventually became mute and motionless with rigid limbs. This is a special type of coma called "Akinetic Mutism".
Whenever a person becomes motionless, they are in danger of getting infections like Pneumonia. Unfortunately, there’s no cure for Creutzfeldt-Jakob Disease. Doctors explained the course of the disease and prognosis to Anthony and his family. A Few months later, Anthony passed away from Pneumonia. Most people with CJD die within one year from the onset of symptoms.
After the death, A post-mortem autopsy of the brain confirmed the diagnosis of CJD.