Gerstmann–Sträussler–Scheinker syndrome

Uncommon card · No. 185912

Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, invariably fatal neurodegenerative disease that usually affects patients from 35 to 55 years in age. It is exclusively heritable in an autosomal dominant manner, and is found in only a few families around the world. GSS is considered a transmissible spongiform encephalopathy (TSE) due to the causative role played by the PRNP gene, which encodes for the human prion protein. It was discovered by Josef Gerstmann, Ernst Sträussler, and Ilya Scheinker in 1936. Certain symptoms are common to GSS, such as progressive ataxia, pyramidal signs, and dementia; they worsen as the disease progresses. Much like Creutzfeldt-Jakob disease, Gerstmann–Sträussler–Scheinker syndrome has significant variety in presentation.

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