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Genetic and Rare Diseases Information Center (GARD)

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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
  • GSSD
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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.

What is Gerstmann-Straussler-Scheinker disease?

Gerstmann-Straussler-Scheinker disease is a neurodegenerative brain disorder which causes ataxia and dementia. It is almost always inherited and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. Gerstmann-Straussler-Scheinker disease belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs) or prion diseases. Other TSEs include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia.[1]
Last updated: 7/22/2013

What are the symptoms of Gerstmann-Straussler-Scheinker disease?

In the early stages of Gerstmann-Straussler-Scheinker disease, patients may experience varying levels of ataxia (lack of muscle coordination), including clumsiness, unsteadiness, and difficulty walking. As the disease progresses, the ataxia becomes more pronounced and most patients develop dementia. Other symptoms may include dysarthria (slurring of speech), nystagmus (involuntary movements of the eyes), spasticity (rigid muscle tone), and visual disturbances, sometimes leading to blindness. Deafness also can occur. In some families, parkinsonian features are present.[1]
Last updated: 7/22/2013

How is Gerstmann-Straussler-Scheinker disease inherited?

Gerstmann-Straussler-Scheinker disease is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. In some people, Gerstmann-Straussler-Scheinker disease is caused by a new mutation. Although these individuals most likely do not have an affected parent, they can pass the genetic change to their children.[2]
Last updated: 7/22/2013

What genes are associated with Gerstmann-Straussler-Scheinker disease?

Gerstmann-Straussler-Scheinker disease is caused by the PRNP gene.[2]
Last updated: 7/22/2013

How is Gerstmann-Straussler-Scheinker disease diagnosed?

The diagnosis of Gerstmann-Straussler-Scheinker disease requires a combination of the following [3]:

  • Clinical features including: dementia, psychiatric symptoms, dyscoordination of movements (ataxia, dysarthria), weakness and/or spasticity, strokelike episodes, seizures, and autonomic dysfunction
  • 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
  • Testing of at-risk asymptomatic adults for Gerstmann-Straussler-Scheinker disease is done through genetic testing which may identify the presence of the disease-causing mutation in the PRNP gene. This testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in asymptomatic individuals. Testing for the disease-causing mutation in the absence of definite symptoms of the disease is called predictive testing.

    Evaluation and testing for Gerstmann-Straussler-Scheinker disease can be coordinated by a genetics professional at a genetics clinic. Visit the Resources section to find a list of online resources that can assist you in finding a genetics clinic near you.

    Last updated: 7/22/2013

    How might Gerstmann-Straussler-Scheinker disease be treated?

    There is no cure for Gerstmann-Straussler-Scheinker disease, nor are there any known treatments to slow its progression. Current therapies are aimed at alleviating symptoms and making the patient as comfortable as possible.[1]
    Last updated: 7/22/2013

    What is the prognosis for individuals with Gerstmann-Straussler-Scheinker disease?

    Gerstmann-Straussler-Scheinker disease is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow.[1]
    Last updated: 7/22/2013