Article
Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations.
Current neurology and neuroscience reports - 1 Apr 2017
Llorens Franc, Zarranz Juan-José, Fischer Andre, Zerr Inga, Ferrer Isidro
Abstract excerpt
PURPOSE OF REVIEW: Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei...
Topics
- Animals
- Biomarkers
- Brain
- Humans
- Insomnia, Fatal Familial
- Mutation
- Prion Proteins
