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Diseases

Genetic and Rare Diseases Information Center (GARD)

Gerstmann-Straussler-Scheinker disease


Other Names for this Disease
  • Amyloidosis cerebral with spongiform encephalopathy
  • Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system
  • Encephalopathy subacute spongiform Gerstmann-Straussler type
  • Gerstmann Straussler Scheinker syndrome
  • Gerstmann-Straussler-Scheinker syndrome
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
  • Identification of a disease-causing mutation of the PRNP gene

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: 8/19/2015

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
Other Names for this Disease
  • Amyloidosis cerebral with spongiform encephalopathy
  • Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system
  • Encephalopathy subacute spongiform Gerstmann-Straussler type
  • Gerstmann Straussler Scheinker syndrome
  • Gerstmann-Straussler-Scheinker syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.