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Creutzfeldt-Jakob Disease

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Overview

Prion diseases or transmissible spongiform encephalopathies (TSEs) are a family of progressive neurodegenerative disorders in humans and animals. The causative agents of TSEs are believed to be prions. The term “prions” refers to abnormal, pathogenic agents that are transmissible and are able to induce abnormal folding of specific normal cellular proteins called prion proteins that are found most abundantly in the brain. Prion diseases are always fatal and have long incubation periods that are often measured in years. Creutzfeldt-Jakob disease (CJD) is the most common human prion disease. Sporadic CJD (also called classic CJD) makes up 85-95% of all CJD cases, followed by familial or genetic CJD with 5-15% of cases; <1% of cases are iatrogenic or variant CJD.

Organism/Etiologic Agent
Prion (infectious protein)

Transmission

  • Sporadic CJD (sCJD) – No recognizable pattern of transmission or is unknown
  • Familial CJD (fCJD) – Inherited
  • Iatrogenic CJD (iCJD) - Iatrogenic CJD is associated with certain surgical or medical procedures, for example neurosurgical procedures, corneal transplants, dura mater grafts, and administration of contaminated pituitary hormones
    • Iatrogenic CJD cases from dural graft transplants and use of pituitary hormones (human growth hormone) from cadavers have been largely eliminated due to use of synthetic dural grafts.
    • Cases due to contaminated equipment occurred before the routine implementation of sterilization procedures currently used in healthcare facilities, and no cases have been reported since 1976. Refer to CDC’s website for CJD infection control and prevention  recommendations.
  • Variant CJD (vCJD) – Has been associated with consumption of beef products from cattle infected with bovine spongiform encephalopathy (BSE or “mad cow disease”); several iatrogenic cases of transfusion-related vCJD have been reported in the United Kingdom (donors developed vCJD or symptoms of vCJD after donation)

    No vCJD cases have been linked to exposure in the United States.

Symptoms

  • Sporadic CJD (sCJD) – Symptoms may include rapidly progressive dementia, myoclonus, ataxia, and vision and speech difficulties. Sporadic CJD typically occurs in persons greater than 55 years of age. The median duration from illness onset to death is 4-5 months.
  • Familial CJD (fCJD) – Symptoms and duration of illness closely resemble sCJD but can vary within families and depend on the type of genetic mutation. Familial CJD cases have only a slightly younger mean age of onset compared with sCJD cases.
  • Iatrogenic CJD (iCJD) – Symptoms vary depending on the mode of transmission, but clinical and pathological features are often indistinguishable from sCJD. Human gonadotropin and growth hormone treatment, as well as dura mater grafts, tend to begin as a cerebellar syndrome early in the disease course. However, infected dura mater grafts have also been noted to cause symptoms that relate to the anatomic placement of the graft. The age at onset depends on the age at exposure, and on the incubation period. The reported or estimated mean time of occurrence is 9-10 years after administration of human growth hormone and dural graft transplants but can be from 5-40+ years. For additional information on iCJD see the Iatrogenic Creutzfeldt-Jakob Disease, Final Assessment article.
  • Variant CJD (vCJD) – Symptoms may include early psychiatric/behavioral symptoms and dysesthesia/paresthesia progressing to ataxia, dementia, chorea/dystonia or myoclonus, and/or akinetic mutism. Variant CJD typically occurs in persons less than 55 years of age (mean age in the United Kingdom is 28 years), and the mean duration of illness is 13-14 months.

Testing
Better diagnostic testing has improved CJD surveillance in Texas. In 2015, the National Prion Disease Pathology Surveillance Center (NPDPSC) introduced the 2nd Generation Real-Time Quaking Induced Conversion test or RT-QuIC, an ante-mortem cerebrospinal fluid (CSF or spinal fluid) test for the abnormal/pathogenic form of the prion protein. 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 or ruling-out prion disease.

Brain tissue is preferably obtained by autopsy rather than biopsy, as neuropathological analysis of biopsied brain tissue cannot rule out prion disease, and brain biopsies are generally not required unless a physician is trying to exclude an alternative treatable 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 confirmatory testing. Please see the NPDPSC website for more information about the Autopsy Coordination Program, and other services offered.

Additional ante-mortem tests that may assist with diagnosis include 14-3-3 protein and tau protein in CSF, brain magnetic resonance imaging (MRI), and electroencephalogram (EEG). Blood testing, or other specimen types, can be utilized for genetic testing if a familial form of CJD is being considered.

Treatment & Prevention
There is no known prevention or treatment that will stop progression of these fatal diseases.

Recent Texas Trends

Prion disease surveillance monitors the occurrence of prion diseases in the United States, but it also monitors for the emergence of vCJD and other potentially preventable new prion diseases, as well as for rare classic forms of prion diseases that are attributable to medical procedures. Prion disease surveillance also helps assess the efficacy of ongoing U.S. prevention measures.

CJD has been a NOTIFIABLE CONDITION in Texas since 1998, and it was likely under-reported and misdiagnosed for many years. For over 10 years now, Texas has carried out enhanced surveillance (passive and active surveillance) for CJD, including sporadic, familial/genetic, and acquired (iatrogenic and variant) CJD. The success of this program is demonstrated by the identification and confirmation of sporadic (sCJD), familial (fCJD) and variant (vCJD) CJD, as well as cases of Variably Protease Sensitive Prionopathy (VPSPr), Fatal Familial Insomnia (FFI), sporadic Fatal Insomnia (sFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. From 2011-2020 Texas reported 259 sCJD, 16 fCJD, 1 vCJD, 3 VPSPr, 1 FFI, and 2 sFI cases. Texas also investigates higher priority cases, such as cases in persons <55 years old, as vCJD is rarely found in individuals >55 years old, reported possible clusters, potential iatrogenic cases, and cases with risk factors that could expose them to other prion diseases, such as chronic wasting disease of deer and elk.

In 2014, Texas had the 4th US variant CJD case; the person was likely exposed to the infectious agent before moving to the United States. A full description of the case can be found at: https://stacks.cdc.gov/view/cdc/30921 or 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.

The Centers for Disease Control and Prevention (CDC) reports a worldwide (including the United States) CJD incidence rate of approximately 1-1.5 cases per million population per year, but rates up to 2 cases per million are not unusual.

In Texas, the average rate of deaths per million population due to CJD over the past 10 years (2011-2020) is 1.02 cases per million population per year. The average rate over two consecutive 5-year periods, 2011-2015 & 2016-2020, are 0.76 & 1.26 (cases per million population per year), respectively. There has been an increase in CJD cases over the last several years, and this can be attributed to several factors. The population of Texas is increasing, the availability of a new more sensitive test, the RT-QuIC test, in 2015, as well as increased awareness of this testing and confirmatory testing available at the NPDPSC, has increased the surveillance capacity for human prion diseases in Texas (increased reporting and antemortem diagnosis of CJD). The intensity of surveillance methods can also influence the reported incidence of CJD, and other prion diseases. CDC also updated their criteria for classifying a CJD case, and this was implemented in Texas in 2019. The combination of a positive RT-QuIC CSF result with neuropsychiatric symptoms allows for decreased reliance on the presence of specific neurologic symptoms to classify a case of CJD. This has permitted the classification of CJD cases that previously may not have been counted. The change in the CJD criteria is evidence of the incorporation of scientific data into surveillance system approaches to count cases more accurately. In 2019, the number of CJD cases and the overall rate of CJD increased, however, in the majority of cases brain tissue was examined and there were no unusual findings. Also, only four of the 2019 cases were <55 years of age, all of whom had autopsies, and the brain tissue analysis did not reveal any unusual neuropathology. In 2020, the number of CJD cases and the overall rate of CJD decreased from 2019. This may be an influence from the COVID-19 pandemic and decreased seeking of healthcare; however, the rate did not significantly decrease like some other infectious diseases reported to public health. The number of cases that had brain tissue examined also decreased in 2020, and there were higher numbers of cases in individuals <55 years of age. In 2020, nine cases were <55 years of age, of which three cases had brain tissue examined and there were no unusual findings, and six cases did not have brain tissue examined. Decreased brain tissue analysis could be an influence of the COVID-19 pandemic and response, increased trust by physicians in RT-QuIC CSF results and less reliance on autopsy results, decreased consent to autopsy by the patient or family, or other factors. However, fluctuations in the data obtained via CJD surveillance systems and demographics of cases is expected from year to year. The rate of CJD decreased from 2019 to 2020, but small changes in case counts can lead to larger changes in rates, and with increased surveillance in Texas, a rate closer to 1.5 cases per million population may be more representative of CJD cases in Texas. The rate of cases that have brain tissue analysis will be monitored over time, and all other CJD data will continue to be evaluated on an ongoing basis.

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Last updated May 23, 2022