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Diseases

Genetic and Rare Diseases Information Center (GARD)

Gerstmann-Straussler-Scheinker disease


Other Names for this Disease
  • GSSD
  • 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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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 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

References
Other Names for this Disease
  • GSSD
  • 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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.