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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 1-1.5 cases per million population per year for classic CJD. In Texas, the average rate of all CJD deaths per million population over the past 5 years and past 10 years is 1.0 and 0.9, 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 2009-2018 Texas has reported 14 familial CJD (fCJD), 2 Fatal Familial Insomnia (FFI), 221 classic or sporadic CJD (sCJD), 1 variant CJD (vCJD), 2 sporadic Fatal Insomnia (sFI), and 3 Variably Protease Sensitive Prionopathy (VPSPr) cases.

The average rate of deaths per million population due to CJD over the past 10 years (2009-2018) is 0.9 cases per million population per year. The average rate over two consecutive 5-year periods, 2009-2013 & 2014-2018, are 0.71 & 1.0 (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 relatively constant; indicating that the increase in case counts is mostly due to the increase in population, but the availability of new tests in 2014 has also increased the surveillance capacity for CJD in Texas (increased reporting and ant-mortem diagnosis of CJD).

In 2014, Texas had the 4th 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 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, as neuropathological analysis of biopsied brain tissue cannot rule out prion disease. Efforts continue to educate the public and medical providers of the importance of confirming a prion disease 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 for 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 prion disease, the rarity of prion disease, and the lack of ante-mortem confirmatory diagnostic tests all contribute to rates of death below the expected 1.0 to 1.5 case per million population per year in past years.
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Last updated July 27, 2020