Luckily, prion disease in humans is rare, like one in million. However, the rapid spread through wild game animals and the history of transmission of a similar disease to humans from eating prion-infected beef means knowing about the disease is important.
Overview
Misfolded proteins called prions cause a group of deadly neurodegenerative disorders in humans called Creutzfeldt-Jakob Disease (CJD), named for the men who first described them. Three main forms are:
* Sporadic CJD – most common (85% of cases), unknown source/cause but the microscopic prion structure is like the type in sheep
* Hereditary CJD – 10% of cases; in families with a history of the disease and test positive for a genetic mutation
* Acquired CJD – transmitted by medical procedures or eating contaminated meat, or as in kuru from cannibalism.
The diseases are collectively known as Transmissible Spongiform Encephalopathies (TSEs) in animals, a descriptive term depicting the holes in brain tissue from abnormal protein accumulation. CJD is the most common of human prion disease; others include Fatal Familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS).
Symptoms of CJD
Neurologic symptoms in cattle bear some resemblance to prion-infected humans. Variant Creutzfeldt – Jakob (vCJD), the human form caused by mad cow prions, begins with visual changes, color variation and distortion of figures. Progression occurs over months and is varied depending on the area of brain most affected.
Symptoms include emotional instability, (crying, laughing, anger outbursts), visual hallucinations, slow thinking, memory loss, and impaired judgment. As the disease worsens, tremors, poor balance, stiffness and jerking muscles cause trouble walking. Ultimately, the person is bedridden and lapses into a coma. Symptoms overlap with other neurodegenerative diseases including Alzheimer’s and Parkinson’s.
Diagnosis
Neurological evaluations for these symptoms often include brain MRI or CT scans and spinal fluid testing. A brain biopsy provides the definitive diagnosis, but new blood and urine tests are available. Microscopic findings show characteristic protein accumulations with holes, making brain tissue look like a sponge. To identify the origin of the disease, differences in the abnormal folding of prion proteins can be determined at the Human Prion Surveillance Center in Cleveland, Ohio.
We have hope for rapid diagnosis and treatment with researchers around the world and
in Montana at the NIH Rocky Mountain Lab in Hamilton, searching for ways to stop prion disease. The current concern is saving the wildlife.
More information can be found online at the NIH Fact Sheet website:
I am finishing final editing on Extinction, a prion medical thriller and will soon be ready to query agents.
Thanks for stopping by.
Betty Kuffel, MD
Author Betty Kuffel, MD 
I have always wondered, “What happened to mad cow disease that we never hear anything about it any more?”. I figured it had been resolved years before and had simply dropped off our radar. How informative Betty, that you’d bring this to the forefront of our minds again, reminding us that it is still a very real and very scary issue. I love that you used it as a storyline for your new book and that you encourage others by writing about how it affects our wildlife and people. Who knew? Thanks for being an informative writer as well as an entertaining author; you are much appreciated by those who know your history of medical knowledge combined with skillful and successful writing of fiction stories. I
I did my own research after you opened my eyes about the subject of mad cow disease and it’s profound impact on animals and humans today. Thanks for delivering such a valuable message. Now I’m going to continue reading your book that I just downloaded. THANKS dear friend! Janet
Thanks Janet. Yes, prion disease is very interesting and very scary. B
Glad you posted this. I’m looking forward to your new book, “Extinction.” Your writing is captivating. Keep your fans intrigued by more writing. My best, Bobbie McHugh
Betty, as before, when I try to comment, your wordpress won’t accept my password.
If you can bypass that, here’s what I’d like to say:
Thank you for the fascinating–and scary–information. Looking forward to publication of your medical thriller EXTINCTION!
Debbie
On Mon, Apr 29, 2019 at 1:04 AM Author Betty Kuffel, MD wrote:
> bettykuffel posted: ” Luckily, prion disease in humans is rare, like one > in million. However, the rapid spread through wild game animals and the > history of transmission of a similar disease to humans from eating > prion-infected beef means knowing about the disease is ” >