Creutzfeldt-Jakob Disease

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Overview

Creutzfeldt - Jakob disease (CJD) is a rare, fatal brain disorder consisting of four types: sporadic (most common - makes up 85 - 95% of all CJD cases - sometimes referred to as classic), familial (represents 5 - 15% of all CJD cases), variant, and iatrogenic.

Organism/Etiologic Agent
Prion (infectious protein)

Transmission

• Sporadic CJD (sCJD) – mode of transmission is unknown
• Familial CJD (fCJD) – inherited
• Variant CJD (vCJD) – believed to be associated with consumption of beef products from cows contaminated with the agent of mad cow disease.
• Iatrogenic CJD (iCJD) - transmission can occur through certain medical or surgical procedures.

Symptoms

• Sporadic CJD (sCJD) Symptoms may include rapidly progressive dementia, myoclonus, ataxia, vision and speech difficulties. Typically occurs in persons greater than 55 years of age. Average duration of illness is 3 months.
• Familial CJD (fCJD) Symptoms and duration of illness vary depending on type of mutation. Symptoms may be similar to sCJD.
• Variant CJD (vCJD) Symptoms may include early psychiatric symptoms and dysaesthesia/paresthsias progressing to chorea/dystonia or myoclonus, dementia, ataxia, and/or akinetic mutism. Typically occurs in persons less than 55 years of age (average age 28). Average duration of illness is 13 months.
• Iatrogenic CJD (iCJD) Symptoms vary depending on portal of entry. If transmission occurs directly to brain symptoms will be similar to sCJD.

Treatment & Prevention
There is no known effective treatment or prevention.

Recent Texas Trends
Creutzfeldt-Jakob Disease (CJD) is a rare, invariably fatal neurodegenerative disease with an incidence rate of approximately 1 case per million population per year. In Texas, the average rate of CJD deaths per million population over the past 5 and past 10 years is 0.85 and 0.85, respectively.

For over 10 years, Texas has carried out enhanced surveillance (passive and active surveillance) for CJD including all sporadic, acquired, and genetic/inheritable forms of human transmissible spongiform encephalopathies (TSEs).

The success of this program is demonstrated by the identification and confirmation of familial, variant, and sporadic cases of CJD, along with cases of Fatal Familial Insomnia (FFI), sporadic Fatal Insomnia (sFI), Gerstmann-Sträussler-Scheinker (GSS) syndrome, and Variably Protease Sensitive Prionopathies (VPSPr). From 2008-2017 Texas has reported 13 familial CJD (fCJD), 2 Fatal Familial Insomnia (FFI), 205 sporadic CJD (sCJD), 1 sporadic Fatal Insomnia (sFI), 3 Variably Protease Sensitive Prionopathy (VPSPr), and 1 variant CJD (vCJD).

The sustainability of this program is evidenced by the average rate of deaths per million population over the past ten years and at the consecutive 5-year intervals within the past 10 years. These rates have remained steady over time as the population of Texas has increased from approximately 24 million to over 28 million in population (2008-2017). The average rate of deaths per million population due to CJD over the past ten years (2008-2017) is 0.85 cases per million population per year. The average rate over two consecutive 5-year periods, 2008-2012 & 2013-2018 are 0.85 & 0.85 (cases per million population per year), respectively.

While the annual number of deaths due to CJD have increased over time, the death rate per million population remains constant; indicating that the increase in case counts is due to the increase in population rather than due to an increase in transmission or new forms of disease. 

In 2014, Texas had the 4^th variant CJD case to be reported in the United States. A full description of the case can be found at: http://wwwnc.cdc.gov/eid/article/21/5/pdfs/14-2017.pdf

Maheshwari A, Fischer M, Gambetti P, Parker A, Ram A, Soto C, Concha-Marambio L, Cohen Y, Belay ED, Maddox RA, Mead S, Goodman C, Kass JS, Schonberger LB,Hussein HM. Recent US Case of Variant Creutzfeldt-Jakob Disease-Global Implications. Emerg Infect Dis. 2015 May;21(5):750-9. doi:10.3201/eid2105.142017. PubMed PMID: 25897712; PubMed Central PMCID: PMC4412247.

In late April of 2015, the National Prion Disease Pathology Surveillance Center (NPDPSC) began offering a new ante-mortem CSF test, the “Real-Time Quaking Induced Conversion (RT-QuIC)” test, which is a test for the abnormal/pathogenic form of the prion protein in the CSF. Though this test may aid physicians in the investigation of illness with rapidly progressive dementia, it is not a confirmatory test. Neuropathological analysis of autopsied whole brain tissue remains the only method for confirming and ruling-out prion disease.  

To confirm a diagnosis of CJD neuropathological analysis of brain tissue must be performed. Brain tissue is preferably obtained by autopsy rather than biopsy. Efforts still continue to educate the public and medical providers on the importance of confirming a diagnosis and the services available to those interested in a confirmatory diagnosis (many of them are at no cost to the family). Autopsy is available free through the National Prion Disease Pathology Surveillance Center for all suspect cases of CJD. Please see http://case.edu/medicine/pathology/divisions/prion-center/ for more information.

While CJD remains a NOTIFIABLE CONDITION in Texas, it is still under-reported and misdiagnosed. The under-reporting of disease, the rarity of disease, and the lack of pre-mortem confirmatory diagnostic tests all contribute to rates below the expected 1.0 case per million population per year.