Neurodegenerative Diseases: Creutzfeldt-Jakob Disease

Written by: Caroline Kim

August 8, 2024

In this week’s topic of neurodegenerative diseases, we’ll explore what is known as the Creutzfeldt-Jakob disease- a rare condition that leads to dementia. According to the CDC, this condition affects 1-2 individuals per 1 million population members annually, usually older adults. Mayo Clinic describes this neurodegenerative disease as a faster progressing and fatal version of Alzhiemer’s disease. 

Symptoms of Creutzfeldt-Jakob Disease (CJD) include but are not limited to impaired thinking, memory loss, personality changes, vision impairment, difficulty with speaking/swallowing/coordination, and insomnia (Mayo Clinic Staff). This disease often results in death within the year, but MayoClinic notes that it often is due to tangential medical issues that progress from the disease such as heart failure/trouble swallowing. 

This disease is caused by a prion protein which is usually produced in the body; however, when they encounter infectious prions they morph into a more atypical and problematic shape (Mayo Clinic Staff). Other human diseases from prion proteins include Kuru, Fatal Familial Insomnia, Gerstmann-Straussler-Schenker disease (NIH). (Because CJD cannot be spread by coughing/sneezing/contact, the risk of getting it is low; there are 3 main types of  CJD: Sporadic, Inheritance, and Iatrogenic (Mayo Clinic Staff). In sporadic cases, which account for approximately 85% of the cases, the infectious prion proteins already exist in the body for an unknown reason, ensuing the CJD (CDC). In familial cases (less than 15%), patients may test positive for genetic changes associated with CJD. In the very rare Iatrogenic cases, CJD is caused by medical contamination such as injections, transplants, and brain surgery; in surgical cases where transfer resulted from contaminated instruments, it is because the standard cleaning procedures do not kill the prion proteins (Mayo Clinic Staff). In a fourth scenario, variant CJD can be contracted from ingesting beef, though this is very unlikely (Cleveland Clinic medical professional). 

Diagnosis for this condition includes utilizing EEGs to identify abnormalities associated with CJD, Cerebrospinal fluid-based tests that check for proteins, and MRIs for imaging (NIH). While there is no known cure for CJD, treatment for the associated symptoms exists (Cleveland Clinic medical professional). This is not a disease that is truly “preventable” by any means including lifestyle. Risk factors are also limited to older age (60’s+), though variant CJD has been known to affect a slightly younger age group as well (CDC). 

Sources: 

1. CDC. “Classic Creutzfeldt-Jakob Disease.” Centers for Disease Control and Prevention, 13 May 2024, www.cdc.gov/creutzfeldt-jakob/about/index.html#:~:text=Classic%20CJD%20occurs%20worldwide%20in,million%20population%20members%20per%20year. Accessed 03 Aug. 2024. 

2. Mayo Clinic Staff. “Creutzfeldt-Jakob Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 28 Jan. 2023, www.mayoclinic.org/diseases-conditions/creutzfeldt-jakob-disease/symptoms-causes/syc-20371226. Accessed 03 Aug. 2024. 

3. NIH. “Creutzfeldt-Jakob Disease.” National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, www.ninds.nih.gov/health-information/disorders/creutzfeldt-jakob-disease. Accessed 03 Aug. 2024. 

4. Cleveland Clinic medical professional. “Creutzfeldt-Jakob Disease (CJD): Symptoms & Treatment.” Cleveland Clinic, 21 April. 2022, my.clevelandclinic.org/health/diseases/6001-creutzfeldt-jakob-disease. Accessed 03 Aug. 2024.