Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Gerstmann-Sträussler-Scheinker Syndrome (GSSS) [A81.9]

OMIM numbers: 137440, 176640 (PRNP)

Dr. rer. biol. hum. Soheyla Chahrokh-Zadeh,
Dipl.-Biol. Wolfgang Rupprecht

Scientific Background

The Gerstmann-Sträussler-Scheinker syndrome (GSSS) is a very rare form of the spongiform encephalopathies and follows an autosomal dominant inheritance pattern. Just like in the familial form of Creutzfeldt-Jacob disease (CJD), mutations in the gene for the prion protein (PRNP) are causing the disease. So far, 10 different mutations have been described, the mutation Pro102Leu being the most frequent one. The first manifestation of the disease usually occurs between the 3rd and 5th decade of life. The main clinical signs include cerebellar dysfunction with cerebellar ataxia, dysarthria, nystagmus, gait ataxia and, in later stages, dementia. Neurologic signs and symptoms arise from  amyloid plaque deposition in the brain, especially in the region of the cerebellum. The average survival rate after the diagnosis is approximately 5 years.