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What are Creutzfeldt-Jakob and Other Prion Diseases?

What are prion diseases?

Prion diseases are a class of dementias that are caused by an abnormal form of proteins in the brain known as prions. These diseases are characterized by a “spongy” appearance of the brain tissue leading to their classification as transmissible spongiform encephalopathies (TSE’s). The human prion diseases include Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), Fatal Familial Insomnia (FFI), and kuru. 

What is CJD?

CJD is the most common type of human prion disease and is estimated to occur in one per 1,000,000 people per year, although several studies have suggested that the frequency may be higher because misdiagnosis of cases is common. CJD usually occurs sporadically by an unknown mechanism, but 10-15% of cases occur in families. In rare circumstances, CJD can be transmitted through eating prion-contaminated meat products or through medical procedures.

What are the symptoms of CJD?

There is a wide variety of symptoms in early CJD, which often leads to its misdiagnosis. Psychiatric symptoms such as depression, anxiety, and paranoia, are often observed in the beginning stages of the disease. Rapid cognitive decline, abnormalities in walking and balance, movement disorders, and abnormalities in speech are observed in the majority of cases. Unfortunately, CJD and other prion diseases are ultimately fatal within two years of their onset.

How is CJD diagnosed?

The only method for a definitive diagnosis of CJD is to examine the affected individual’s brain tissue. However, there are several clinical tests that aid clinicians in making a diagnosis of probable CJD:

  • Cerebrospinal fluid analysis (obtained by "spinal tap") to measure certain proteins
  • Electroencephalogram (EEG)
  • Magnetic resonance imaging (MRI) of the brain

If there is concern that the illness may be inherited, a blood test can be performed on the patient and/or family members to assess for any genetic mutations.

What is the treatment for CJD?

Unfortunately, there is presently no cure for this disease. Thus treatments that are aimed at preventing or stabilizing the disease are experimental. However, this does not mean that symptoms of the disease cannot be managed and that the patient and family cannot be cared for in a compassionate manner. As in other neurodegenerative diseases, cognitive and physical deterioration often results in distressing emotional and psychological symptoms that can be treated with medications or nonpharmacologic treatments. In short, medications and other treatments generally will improve the quality of life for our patients and their family.   

CLINICAL CARE
Refer a patient to or to make an appointment in the Frontotemporal and Young-Onset Dementia Clinic.

Additional Resources

Center for Disease Control - Creutzfeldt-Jakob Disease
http://www.cdc.gov/ncidod/dvrd/cjd/

CJD Surveillance - National Prion Disease, Pathology Surveillance Center
http://www.cjdsurveillance.com/

Creutzfeldt-Jakob Disease Foundation
www.cjdfoundation.com

 
 

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