Fatal familial insomnia

This work has shown that sporadic cases with clinico-pathological features quite similar to FFI but in the absence of mutations in the PRNP gene have also been reported (so-called sporadic FI), making it one of the most prevalent hereditary prion diseases.

Abstract

Fatal familial insomnia (FFI) is a rapidly progressing familial prion disease, clinically characterised by insomnia which resists treatment, dysautonomia, motor signs and, anatomicopathologically, by the selective degeneration of the ventral anterior (VA) and dorsomedial (DM) thalamic nuclei. The disease is transmitted in an autosomal dominant fashion [8].Until now, more than 30 kindreds are known to be affected with FFI, making it one of the most prevalent hereditary prion diseases. More recently, sporadic cases with clinico-pathological features quite similar to FFI but in the absence of mutations in the PRNP gene have also been reported (so-called sporadic FI).