Gerstmann-Straussler-Scheinker disease

Definition

Gerstmann-Straussler-Scheinker disease (GSS) is a rare, inherited prion disease characterized by progressive neurodegeneration. It is caused by mutations in the PRNP gene which encodes the prion protein.

5 Must Know Facts For Your Next Test

1. GSS belongs to a group of diseases known as transmissible spongiform encephalopathies (TSEs).
2. The onset of GSS typically occurs between the ages of 35 and 55.
3. Symptoms include ataxia, dementia, and motor dysfunction.
4. GSS is autosomal dominant, meaning only one copy of the mutated gene is needed to cause the disease.
5. There are no current cures for GSS; treatment focuses on symptom management.

Related terms

Prion:

A misfolded protein that can transmit its misfolded shape onto normal variants of the same protein.

Transmissible Spongiform Encephalopathy (TSE): A group of progressive conditions that affect the brain and nervous system in humans and animals.

PRNP Gene: The gene responsible for encoding the prion protein, mutations in which can lead to prion diseases such as GSS.