Gerstmann-Sträussler-Scheinker syndrome

Gerstmann-Sträussler-Scheinker syndrome is an extremely rare and invariably fatal neurodegenerative disease, first described in 1936 by the physicians Josef Gerstmann, Ernst Sträussler and Ilya Scheinker. It typically affects people between the ages of thirty-five and fifty-five and has been documented in only a small number of families worldwide, reflecting its exclusively heritable, autosomal dominant pattern of inheritance. The disease belongs to the family of transmissible spongiform encephalopathies, or prion diseases, because it results from mutations in the PRNP gene, most commonly the P102L substitution, which cause the prion protein to misfold and progressively damage brain tissue. Despite this connection to prion biology, the condition is not contagious between people; it is passed only through inherited genetic mutation within affected families. Symptoms progress relentlessly over months to years and typically include worsening problems with coordination and balance and cognitive decline, ultimately leading to death; no treatment currently exists that can halt or reverse the underlying neurodegeneration.