Data FAQs Reporting Resources
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.
