Gerstmann-Sträussler-Scheinker disease- the dilemma of molecular and clinical correlations

Gerstmann-Sträussler-Scheinker disease (GSSD) is a hereditary as well as transmissible human prion disease, restricted to families carrying point mutations of the PRPN gene on chromosome 20. To date 7 different causative mutations have been found. In this review the results of molecular biology with regard to the clinical course are discussed. As the findings of the disorder are very variable, the clinical picture and the neuropathology are extensively reported. An attempt has been made to define the disease, and filter out atypical non-GSSD cases. Finally, a comprehensive bibliography and tabulation of cases reported in the Western and Japanese literature are provided.