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For Health Care Providers | For Local Health Departments | Background | How is CJD Diagnosed? | Resources

Local Health Departments:

Please report all clinical cases diagnosed by a neurologist or confirmed by tissue pathology of human TSEs including:

•   Sporadic CJD (sCJD), also known as Classic Creutzfeldt-Jakob Disease (CJD)
•   Familial CJD (fCJD) or inherited CJD
•   Iatrogenic CJD (iCJD)
•   Variant Creutzfeldt-Jakob Disease (vCJD), originally called new variant CJD (nvCJD)
•   Gerstmann-Straussler-Scheinker Syndrome (GSS)
•   Fatal Familial Insomnia (FFI)
•   Kuru

Reporting a Case:

Typically a local health department (LHD) will receive notification of a possible case of CJD from one or more of four different sources. You may be sent 1) a report of an abnormal 14-3-3 protein or positive test for abnormal tau protein from cerebrospinal fluid (CSF); 2) notification of a case from a healthcare provider; 3) a death certificate listing CJD as a cause of death; or 4) abnormal brain biopsy or autopsy results indicating prion disease.

1) Report of abnormal 14-3-3 protein or tau protein (see How is CJD Diagnosed?)
The National Prion Disease Pathology Surveillance Center (NPDPSC) based at Case Western Reserve University is the laboratory in the United States that does the majority of diagnostic testing for CJD and other prion diseases. The NPDPSC has begun testing all CSF sent for 14-3-3 testing for tau protein as well. NPDPSC or one of the reference laboratories that send CSF samples to the NPDPSC may forward you a copy of an abnormal 14-3-3 or tau report.

Detection of the 14-3-3 protein or tau protein in CSF is NOT definitive for the diagnosis of prion disease. A positive result can occur in non-prion diseases or in a sample that is contaminated by blood. Pathological studies of brain material to detect protease resistant prion remain the only way to make a definitive diagnosis of prion diseases.

When you receive an abnormal CSF test result for the 14-3-3 or tau protein, you should contact the ordering physician and ascertain whether a neurologist thinks that the patient may have or have had CJD. It is frequently the case that by the time the report reaches you, the clinicians will have made another more common and alternate diagnosis. In addition, even if an exact diagnosis has not been made, but the patient has fully recovered, a prion disease has been ruled out. If the neurologist NO LONGER suspects CJD, no report is necessary.

If, however, the diagnosis of CJD is still being entertained, a report must be filed. (Case report form)

If the patient is still alive, the LHD can play an important role in getting a definitive diagnosis by alerting clinicians that free shipping and testing of biopsy and autopsy material can be arranged through the NPDPSC. Arrangements for these services and other details regarding the collection and shipment of clinical specimens, as well as additional resources available at the NPDPSC can be obtained from its website (http://www.cjdsurveillance.com) or by calling (216) 368-0587.

If the patient has died, please obtain hospital discharge summaries, biopsy and autopsy reports, EEG and MRI reports, neurologist notes, and the death certificate. These documents should be submitted along with the case report.

2) Notification of a Case from a Healthcare Provider

If you are notified of a case of CJD or prion disease by a healthcare provider, then you should fill out a CJD report form and obtain the appropriate records. If at all possible, it is especially important to retrieve the notes and opinions of the neurologist, EEG and MRI reports and any biopsy or autopsy information that exists. Again, if the patient is still alive, the LHD can alert clinicians that free shipping and testing of biopsy and autopsy material can be arranged through the NPDPSC.

3) Notification of a Case from A Death Certificate

If you are notified of a possible case of CJD from a Death Certificate then please file a CJD report form and requisition all appropriate patient records. Autopsy and biopsy results and neurologist and MRI reports are particularly important.

4) Notification of a Case from Biopsy or Autopsy Report

If you are notified of a case of CJD through receipt of an abnormal pathology report indicating the presence of CJD, please file a CJD case report and requisition all appropriate medical records and, in the case of autopsy, the death certificate.

CASE REPORT FORM

The case report form is available on-line at http://www.cdph.ca.gov/pubsforms/forms/Pages/CD-Report-Forms.aspx under CJD. Please attach hospital discharge summaries, MRI, EEG, pathology, biopsy and lab report(s), and a copy of the death certificate and mail to:

CA Department of Public Health
Surveillance and Statistics Section
MS 7306
P.O. Box 997377, Sacramento, CA 95899-7377


If assistance is needed in case investigation, please contact the CA Emerging Infections Program-CJD Surveillance Project at (510) 451-1344

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