Other Names for this Disease
- Gerstmann Straussler Scheinker syndrome
- Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system
- Encephalopathy subacute spongiform Gerstmann-Straussler type
- Amyloidosis cerebral with spongiform encephalopathy
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Tests & Diagnosis
The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following:
- Characteristic signs and symptoms
- Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve cells and the progressive symptoms of the disease)
- A family history consistent with autosomal dominant inheritance
- Genetic test showing a disease-causing mutation of the PRNP gene (establishes and confirms the diagnosis).
Last updated: 7/11/2016
- Mastrianni JA. Genetic Prion Diseases. GeneReviews. January 2, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1229/.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.