Creutzfeldt-Jakob Disease (CJD): An Overview of Symptoms, Causes, & Diagnosis

Summary

This video script delves into Creutzfeldt-Jakob Disease (CJD), a rare prion disease causing rapid cognitive decline and fatal protein misfolding. It follows Anthony's tragic progression, from memory loss to akinetic mutism, highlighting key symptoms like myoclonus and ataxia. The script explains CJD's sporadic, familial, iatrogenic, and variant forms, diagnostic methods including EEG, MRI, and CSF tests, and the disease's uniformly fatal outcome within a year of symptom onset.

Takeaways

• 🧠 The brain is a complex network of neurons that rely heavily on proteins for their functions.
• 🛠️ Proteins are essential for various tasks within neurons and are part of a highly specialized working community.
• 💥 Errors in protein behavior can lead to a fatal rebellion within the body, as seen in Prion Diseases.
• 🏥 Creutzfeldt-Jakob Disease (CJD) is a rare Prion Disease that causes rapid cognitive decline and other symptoms.
• 🧩 The disease affects memory and cognitive functions, leading to severe impairments similar to those of a baby.
• 🤯 Symptoms of CJD include rapidly progressive dementia, myoclonus (involuntary jerky movements), and ataxia (unsteady gait).
• 🔬 Prions are misfolded proteins that can replicate and convert normal proteins into abnormal ones, leading to cell death.
• 🌐 There are four types of CJD: sporadic, familial, iatrogenic, and variant, each with different causes and modes of transmission.
• 🛑 Iatrogenic CJD can occur through medical treatments, highlighting the resistance of prions to disinfection and sterilization.
• 🔍 Diagnosis of CJD involves clinical criteria, including EEG, MRI, and lumbar puncture to detect prion proteins in cerebrospinal fluid.
• 🏷️ The presence of the 14-3-3 protein in cerebrospinal fluid is also indicative of CJD, although it is not a prion protein itself.
• ⏳ CJD is a fatal disease with no cure, and most patients die within one year from the onset of symptoms.

Q & A

What is the primary function of neurons in the brain?

Neurons in the brain primarily function by carrying out tasks through an army of proteins, which act like a highly specialized working community.

What is a Prion Disease?

A Prion Disease is a rare condition where prion proteins, a subgroup of cellular proteins, are misfolded into an abnormal shape. These misfolded proteins can self-replicate and convert normal proteins into abnormal ones, leading to cell death and ultimately causing fatal diseases like Creutzfeldt-Jakob Disease (CJD).

What are the key symptoms of Creutzfeldt-Jakob Disease (CJD)?

The key symptoms of CJD include rapidly progressive dementia, myoclonus (quick involuntary jerky movements), and ataxia (unsteady gait).

How does the abnormal prion protein cause damage in the brain?

Abnormal prion proteins act like brutal conquerors, self-replicating and converting normal proteins into abnormal ones in a chain reaction. The accumulation of these misfolded proteins leads to cell death, spreading to nearby cells and infecting them as well.

What are the different ways Creutzfeldt-Jakob Disease can develop?

Creutzfeldt-Jakob Disease can develop in four ways: sporadic (80% of cases, with no known trigger), familial (15% of cases, where a mutation in the prion gene is inherited), iatrogenic (spread through medical or surgical treatments), and variant (caused by the same prions that cause Mad-Cow Disease in cattle).

Why were some children treated with hormones from human pituitary glands in the past?

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 later developed iatrogenic CJD.

How is Creutzfeldt-Jakob Disease diagnosed?

Diagnosis of CJD involves clinical criteria, including an EEG study to detect abnormal electric signals from the brain, an MRI scan to detect abnormalities associated with the disease, and a lumbar puncture to take samples of cerebrospinal fluid (CSF), where prion proteins can be detected by a special technique called 'RT-QUIC'.

What is the significance of the 14-3-3 protein in CJD?

The 14-3-3 protein is not a prion protein, but it gets released into CSF in people with Creutzfeldt-Jakob Disease. Its presence in CSF can be an indicator of CJD.

What is the prognosis of Creutzfeldt-Jakob Disease?

Creutzfeldt-Jakob Disease is fatal, with most people dying within one year from the onset of symptoms. There is no cure for the disease, and patients often pass away from complications such as pneumonia.

How is Creutzfeldt-Jakob Disease confirmed post-mortem?

A post-mortem autopsy of the brain can confirm the diagnosis of CJD by observing a sponge-like appearance with lots of vacuoles, which is characteristic of the disease and is also known as Spongiform Encephalopathy.