Gerstmann-Sträussler-Scheinker disease is a very rare type of human spongiform encephalopathy that is inherited in an autosomal dominant manner. As in the familial form of Creutzfeldt-Jacob disease, pathogenic variants in the gene encoding the prion protein (PRNP) are causative for the disease. To date, several variants have been described, of which Pro102Leu is the most common.
Initial manifestations of the disease usually occur between the 3rd and 5th decade of life. The main clinical symptoms are cerebellar dysfunction with cerebellar ataxia, dysarthria, nystagmus, gait ataxia and, at later stages, development of dementia. The neurological symptoms are a result of the accumulation of amyloid plaques in the brain, particularly in the cerebellum region. The average survival rate after diagnosis is about 5 years.
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