14 Inherited Prion Diseases

HISTORICAL OUTLINE The first report of an inherited prion disease can be traced to an affected member of the “H” family carrying a neurologic disorder through multiple generations. It was presented at a meeting of the Viennese Neurological and Psychiatric Association in 1912 (Dimitz 1913). Two decades passed before Gerstmann in 1928 and Gerstmann, Straussler, and Scheinker in 1936 reported clinical presentations and neuropathologic findings for several affected members of the “H” family. These reports established the disease that is currently referred to as Gerstmann-Straussler-Scheinker disease or GSS (Gerstmann 1928; Gerstmann et al. 1936). The subject reported by Creutzfeldt in 1920 and 1921, who had a positive family history (Creutzfeldt 1920Creutzfeldt 1921), is unlikely to have been affected by the condition now called Creutzfeldt-Jakob disease (CJD). The first authentic familial case of CJD was recorded in 1924 by Kirschbaum (1924). However, it was Meggendorfer in 1930 who showed that the subject described by Kirschbaum was a member of a large kindred that became known as the “Backer” family, proven in subsequent publications to be affected by an inherited form of CJD (Meggendorfer 1930; Stender 1930; Jakob et al. 1950). In 1973, Gajdusek, Gibbs, and their colleagues first demonstrated the transmissibility of inherited prion diseases with a CJD-like phenotype to nonhuman primates (Roos et al. 1973). This finding followed earlier studies that reported the transmissibility of the sporadic form of CJD and kuru, a prion disease of the Fore tribe of New Guinea propagated through endocannibalism (Gajdusek et al. 1966; Gibbs...