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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Your QuestionI may be at-risk to develop Gerstmann-Straussler-Scheinker disease. Is there a test that can be performed to provide me with a definitive diagnosis, even if I don't currently have symptoms?
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Questions on this page
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
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016
- Mastrianni JA. Genetic Prion Diseases. GeneReviews. January 2, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1229/.