Pearls & Oy-sters: Challenging diagnosis of Gerstmann-Sträussler-Scheinker disease

Gerstmann-Sträussler-Scheinker disease (GSS) is a rare prion disease characterized by cerebellar ataxia with progressive cognitive decline.cGSS is caused by a mutation within the prion protein gene (PRNP), which commonly exhibits an autosomal dominant inheritance pattern.However, a significant portion of previously reported cases show no family history of the disease, and GSS may also occur through de novo mutation of PRNP. Oy-sters cGSS is clinically heterogeneous and has no characteristic features on imaging.GSS could be considered in patients experiencing unexplained ataxia and subsequent cognitive decline even in those without a family history of the disease.