Sexual disinhibition and agrypnia excitata in fatal familial insomnia

Fatal familial insomnia (FFI) is a rare hereditary prion disease, characterized by severe insomnia, motor disorders, dysautonomia and dementia [1,2]. The pathogenic cause is a point mutation at codon 178 of the prion protein gene (PRNP) [2]. This mutation is also found in genetic Creutzfeldt-Jakob disease (gCJD), but the intragenic polymorphism at codon 129 drives the clinical expression, with FFI patients expressing methionine and gCJD patients expressing valine in the mutant allele [2]. The polymorphism at codon 129 on the non-mutated allele influences the clinical presentation [2,3].

Source: Journal of the Neurological Sciences - May 24, 2016 Category: Neurology Authors: Leonardo Cruz de Souza, Antônio Lúcio Teixeira, Fábio Lopes Rocha, Michele Christine Landemberger, Vilma Regina Martins, Paulo Caramelli Tags: Letter to the Editor Source Type: research