A man was brought to the hospital by his wife due to rapidly progressing neurological symptoms and dementia. Tests including an EEG, MRI, and lumbar puncture were used to diagnose the man with Creutzfeldt-Jakob disease (CJD). CJD is a fatal, neurodegenerative prion disease caused by an abnormal form of the prion protein. It leads to sponge-like lesions in the brain and currently has no cure or treatment.

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.