Chapter 15 - Fatal familial insomnia and sporadic fatal insomnia
Section snippets
History
Severe thalamic atrophy as a distinct clinical and pathologic entity has been reported from at least 1939 (Stern, 1939). In his review Jakob-Creutzfeldt Disease in 1968, Kirschbaum introduced the thalamic subgroup comprising five previously published cases (Stern, 1939; Poursines et al., 1953; Schulman, 1956; Garcin et al., 1962, Garcin et al., 1963; McMenemey et al., 1965). In Martin, 1975, Martin et al., 1983 and colleagues proposed a classification of Thalamic degenerations or Thalamic
Conclusions and future developments
FFI and sFI have well-established genetic, clinical, and histopathologic features. Basic biochemical characteristics of the mutated PrP and of the disease-associated PrP (PrPTSE), including propensity to transmit experimentally and the features of the transmitted disease, have also been examined. However, FFI and sFI, as with other neurodegenerative diseases, suffer from the lack of an accurate animal model and an effective treatment. Accurate disease modeling is critical to determine the mode
Acknowledgments
We are grateful to Drs. Mark Cohen (National Prion Disease Pathology Surveillance Center (NPDPSC), Case Western Reserve University, United States), Pietro Cortelli (University of Bologna, Italy), Xiao-Ping Dong (Chinese Center for Disease Control and Prevention, China), Jorge Iriarte (University of Navarra, Spain), Yi Li (Shandong University, China), Piero Parchi (University of Bologna, Italy), and Robert G. Will (University of Edinburgh, United Kingdom) for their invaluable cooperation. We
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“To Professor Elio Lugaresi, the mentor who critically shaped my early professional life, the collaborator who initiated all this work and a precious friend throughout” Pierluigi.