Gerstmann Straussler Scheinker Syndrome

Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare, inherited prion disease that affects the central nervous system. Prion diseases are a group of neurodegenerative disorders caused by misfolded prion proteins that accumulate in the brain and disrupt normal brain function. GSS specifically is associated with mutations in the PRNP gene, which codes for the prion protein.

GSS typically presents in adulthood and is characterized by a variety of neurological symptoms, which may include:

• Cognitive impairments
• Ataxia
• Extrapyramidal signs
• Visual disturbances
• Other less common symptoms of GSS can include personality changes, mood swings, depression, and sensory abnormalities.

Diagnosis of GSS is typically based on clinical symptoms, family history, and genetic testing to identify mutations in the PRNP gene. Brain imaging studies, such as magnetic resonance imaging (MRI), may also be used to evaluate the brain for characteristic changes seen in prion diseases.

Our Gerstmann Straussler Scheinker Syndrome Test Package Includes: