Gerstmann-Straussler-Scheinker syndrome

Gerstmann-Straussler-Scheinker syndrome is a very rare and fatal disorder of the brain. It is a type of spongiform encephalopathy that is usually caused by changes (mutations) in the prion protein (PRNP) gene. This genetic mutation leads to the accumulation of amyloid in the brain, affecting normal brain function. People with this condition may experience changes in their movement and coordination. Over time, the disease causes significant problems with thinking and speech, making daily activities difficult. Information provided is based on a trusted definition from medical sources.

Common signs of Gerstmann-Straussler-Scheinker syndrome include a lack of motor coordination, an unsteady gait, and difficulty walking. As the condition progresses, people may develop speech difficulties and dementia.

This condition is usually caused by mutations in the prion protein (PRNP) gene. These genetic changes lead to abnormal protein accumulation in the brain, which is a central feature of the disease.

Information about treatment is currently limited for this condition.

Gerstmann-Straussler-Scheinker syndrome is a fatal disorder, and the outlook for people with this condition is poor. The progression of symptoms generally leads to significant impairment in daily functioning.

Information about research is currently limited for this condition.