National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Gerstmann-Straussler-Scheinker disease

Back to List of Questions
I 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?

The following information may help to address your question:


How is Gerstmann-Straussler-Scheinker disease diagnosed?

The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following:[1]
  • 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).
Genetic testing for at-risk relatives who do not yet have symptoms of GSS is possible if the disease-causing mutation in the family is known. This testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression. Testing for the disease-causing mutation in the absence of definite symptoms of the disease is called predictive testing.[1]


Last updated: 7/11/2016

How can I find a genetics professional in my area?

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 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: 12/6/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

Please see our Disclaimer.

  1. Mastrianni JA. Genetic Prion Diseases. GeneReviews. January 2 2014 (retired page); http://www.ncbi.nlm.nih.gov/books/NBK1229/.