Gerstmann-Straussler-Scheinker disease

What causes Gerstmann-Straussler-Scheinker disease?

Gerstmann-Straussler-Scheinker disease (GSS) is caused by certain changes (mutations) in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain and other tissues throughout the body. People affected by GSS generally have mutations in the PRNP gene that result in the production of an abnormally shaped prion protein. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons (nerve cells). This loss of brain cells leads to the signs and symptoms of GSS.

Last updated on 05-01-20

How is Gerstmann-Straussler-Scheinker disease diagnosed?

The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following:

  • 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.

Last updated on 05-01-20

How is Gerstmann-Straussler-Scheinker disease inherited?

Gerstmann-Straussler-Scheinker disease (GSS) is inherited in an autosomal dominant manner. Every cell of the body has two copies of a gene. In autosomal dominant disorders, to be affected, a person needs a change (mutation) in only one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new ( de novo) mutations in the gene. These cases occur in people with no family history of the disorder. A person with GSS has a 50% chance with each pregnancy of passing along the mutated gene to his or her child.

Last updated on 05-01-20

What is the long-term outlook for people with Gerstmann-Straussler-Scheinker disease?

People with Gerstmann-Straussler-Scheinker disease (GSS) survive for an average of 5 years after diagnosis. The range is 2 to 10 years. In the late stages, people develop mobility problems usually due to severe ataxia. They may also have slurred speech and trouble swallowing.

Last updated on 05-01-20

How might Gerstmann-Straussler-Scheinker disease be treated?

The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression.

GeneReviews' Web site offers more specific information about the treatment and management of GSS and other genetic prion diseases.

The National Prion Disease Surveillance Center is charged with collecting and recording all cases of prion disease in the US. They should be notified regarding all cases of suspected prion disease.

Last updated on 05-01-20

Name: Creutzfeldt-Jakob Disease Foundation, Inc 3610 W. Market St. Suite 110
Fiarlawn, OH, 44333, United States
Toll Free: 1-800-659-1991 Fax : +1-234-466-7077 Email: help@cjdfoundation.org Url: https://cjdfoundation.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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