Case Study- Creutzfeldt-Jakob Disease

1. Creutzfeldt-Jakob Disease
Madison Marion

2. Consider the following:
 A man was brought into the hospital by his wife due to delayed neurological
signs and dementia symptoms that were progressing rapidly.
 He had florid plaques present and Pulvinar signs.

3. What tests would you give to diagnose this?

4. Diagnosis
 The following tests were done to diagnose that patient:
 Electroencephalogram (EEG)- this test uses electrodes to measure your brain’s
electrical activity. Patients with CJD have abnormal patterns.
 MRI- this test uses radio waves and magnetic fields to create cross-sectional images
of your brain.
 Lumbar Puncture- a needle is used to withdraw a small amount of spinal fluid.
Patients with CJD have an abnormal protein (14-3-3 protein) in their spinal fluid.

5. Creutzfeldt-Jakob disease
 CJD is a human prion disease
 It is a neurodegenerative disorder that progresses rapidly, is very rare, and is
fatal
 CJD is classified as a transmissible spongiform encephalopathy and is believed
to be caused by an abnormal isoform of a prion protein
 In most patients it is a sporadic disease without a pattern of transmission but
in a small portion of patients it is inherited through mutations of the prion
protein gene ( Gerstmann-Straussler-Scheinker syndrome and fatal familial
insomnia)

6. The picture to the left shows a tissue slide of a
CJD patient. You can see sponge-like lesions in
the brain tissue, which is a common
characteristic of CJD.

7. Prion Protein
 CJD may develop because of a persons
normal prion proteins mutating into
infectious forms of prion proteins, which
alters the prions in other cells in the brain
 The gene is located on chromosome 20
between the end of the arm and position
12.
 The human protein structure consists of a 2
strand antiparallel Beta sheet, and NH2
terminal tail, three alpha helices, and a
COOH terminal tail.
 A GPI membrane is what anchors the PrP to
the cell membrane

8. Prion Protein Continued
 Copper, Zinc, Manganese, and Nickel are PrP ligands that bind to the
octarepeat region, which causes a conformational change.
 The abnormal prion proteins aggregate, which leads to neuron loss and brain
damage.

9. Treatment
 At this time, there is no treatment for Creutzfeldt-Jakob disease.
 Many drugs have been tested( steroids, antibiotics, and antivirals), but none have
shown to be beneficial
 The main focus is to alleviate the pain and other symptoms as much as
possible.

10. References
 "Creutzfeldt-Jakob Disease, Classic (CJD)." Centers for Disease Control and
Prevention, www.cdc.gov/prions/cjd/.
 "Diseases and Conditions Creutzfeldt-Jakob disease." Mayo Clinic,
www.mayoclinic.org/diseases-conditions/creutzfeldt-jakob-
disease/basics/treatment/con-20028005.
 "Creutzfeldt-Jakob Disease Fact Sheet." National Institute of Neurological
Disorders and Stroke, www.ninds.nih.gov/disorders/cjd/detail_cjd.htm.
 "About CJD." Creutzfeldt-Jakob Disease Foundation, www.cjdfoundation.org/
about-cjd.