Walsh & Hoyt: Fatal Familial Insomnia (FFI)

In 1986, Lugaresi et al. described several patients with an autosomal-dominant neurodegenerative disease characterized by dysautonomia, insomnia, and a fatal outcome. Neuropathologic findings in affected patients included severe neuronal loss in the anterior and dorsomedial thalamic nuclei. These investigators called this disease fatal familial insomnia. Medori et al. subsequently reported a mutation at codon 178 of the PRNP gene in patients with FFI. Tateishi et al. successfully transmitted the disease to experimental animals, and successful transmission to transgenic mice subsequently was demonstrated by Collinge et al.