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 PRNPgene (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.
Last updated: 7/11/2016
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