The National Prion disease Pathology Surveillance Center (NPDPSC) has performed Western blot (WB), histological and immunohistochemical examinations of autopsy tissue from a patient who died in Texas with the diagnosis of suspected variant Creutzfeldt-Jakob disease (vCJD). The results of these tests have confirmed the diagnosis of variant Creutzfeldt - Jakob disease, a prion disease believed to be acquired by eating prion contaminated bovine meat (Diack et al. Prion 2014). According to the available information, the patient has history of travelling extensively in Europe and Middle East. Therefore, the potential source of infection needs to be thoroughly investigated. This is the fourth US case of vCJD diagnosed by the NPDPSC based on tissue examination. In all three previous cases strong evidence indicates that the disease was acquired in the United Kingdom or Saudi Arabia.
Effective 5/1/2011 the National Prion Disease Pathology Surveillance Center will begin charging for cerebrospinal fluid testing. Please review the Cerebrospinal Fluid Protocols page for more information.
Effective 8/1/11, the Center will be charging for genetic testing on blood submitted without confirmed familial CJD history. Please review the Blood Protocols page for more information.
Effective 5/1/12, the Center will be charging for Western blot and IHC testing on biopsy tissue submitted. Please review the Biopsy Protocols page for more information.
Effective 1/1/2014 the National Prion Disease Pathology Surveillance Center will begin testing CSF Specimens received after the first of the new year for Real-time quaking-induced conversion assay (RT-QuIC). The RT-QuIC assay will be performed as a reflex test following a positive 14-3-3 protein or tau with a value of 500 pg/mL or higher. The Quick assay is provided under license from Amprion, which owns the patent that covers PMCA technology (WO 02/04954) and is issued in the United Stated as patent US7,351,526. Please review the Cerebrospinal Fluid Protocols page for more information.
The National Prion Disease Pathology Surveillance Center (NPDPSC) was established in 1997 at the Division of Neuropathology of Case Western Reserve University. Several European countries also have established surveillance centers to monitor the occurrence of prion diseases, or spongiform encephalopathies, in response to the epidemic of Bovine Spongiform Encephalopathy (BSE), also known as “mad cow disease,” which occurred in the United Kingdom during the 1980s.
Purposes of the Center:
- Acquire tissue samples and clinical information from as many cases of human prion disease occurring in the United States as possible in order to help monitor the possible occurrence of variant CJD (vCJD) in the USA.
- Help establish the diagnosis of prion disease by analyzing cerebrospinal fluid (CSF), blood, and brain tissue obtained either at biopsy or autopsy.
- Identify the precise type of prion disease (sporadic, familial, or acquired) by examining the prion protein and the prion protein gene, once the diagnosis of prion disease has been established.
- Report findings to caregivers in a timely fashion.
- Transfer the data obtained to the Centers for Disease Control and Prevention (CDC) and the Health Departments of the individual states in order to monitor the prevalence of prion diseases in the USA and investigate possible cases in which the disease has been acquired from other humans or from animals.
- Store tissues for future studies conducted at the NPDPSC as well as at other laboratories around the world.
Diagnostic Activities of the Center:
- In CSF: Search for the presence of the 14-3-3 protein. The 14-3-3 protein is a marker for some prion diseases, such as Creutzfeldt-Jakob disease (CJD), when a number of other neurodegenerative conditions are excluded.
- In DNA extracted from blood, brain, or other tissues: Search for the presence of mutation in the prion protein gene and determine the polymorphism at codon 129 and at other codons.
- In unfixed brain tissue obtained either at biopsy or autopsy: Search for the presence and establish the type of the abnormal, protease-resistant form of the prion protein, also known as scrapie prion protein (PrPSc).
- On fixed brain tissue: Exclude or confirm and characterize the prion disease by microscopic examination following ordinary histological procedures and immunohistochemical demonstration of the prion protein.
Only frozen brain tissue examination definitely confirms or excludes the diagnosis of prion disease and provides the information to identify the type of prion disease. The immunohistochemical examination provides a definitive diagnosis only when positive. The CSF and blood examinations provide information that may be very helpful to caring physicians in making a clinical diagnosis.
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