The center is supported by the CDC and sponsored by the American Association of Neuropathologists.
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.
The center studies and tracks the following prion diseases:
Human Prion Diseases
- Creutzfeldt-Jakob Disease (CJD)
- Variant Creutzfeldt-Jakob Disease (vCJD)
- Gerstmann-Straussler-Scheinker Syndrome
- Fatal Familial Insomnia
Animal Prion Diseases
- Bovine Spongiform Encephalopathy (BSE)
- Chronic Wasting Disease (CWD)
- Transmissible Mink Encephalopathy
- Feline Spongiform Encephalopathy
- Ungulate Spongiform Encephalopathy
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. Recently we have introduced RT-QuIC (real-time quaking-induced conversion) a new test to detect the abnormal prion protein.
- 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, as well as pattern of tissue distribution.
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.
Research being carried out at the NPDPSC (supported in part by NIH and CDC):
- Cases of prion disease received by the NPDPSC are examined individually and in aggregate with the aim of timely detecting new or atypical cases and establishing more accurate classifications of prion diseases.
- Study of prion diseases in animals that potentially may transmit the disease to humans, such as CWD (Chronic Wasting Disease) and BSE (Bovine Spongiform Encephalopathy).
- Development and study of cell and animal models of human prion diseases to clarify the early events in the pathogenesis of human prion diseases, particularly genetically-modified mice that have the same vulnerability to animal prion diseases as humans and, therefore, serve as models for animal prion disease transmission to humans.
- Analysis of the chemico-physical properties of the pathogenic, or scrapie, prion protein and its fragments present in the brain of subjects affected by prion diseases.
- Development or adaptation of more advanced diagnostic tools to detect human prion diseases.
The files below contain the current Clinical Laboratory Improvement Amendments (CLIA) certifications for the National Prion Disease Pathology Surveillance Center.
- Maryland CLIA Certification
- New York Lab Director CLIA Certification, July 2021- June 2022
- Ohio CLIA Certification
- Pennsylvania CLIA Certification
- Pennsylvania CLIA Change of Director Letter