Article
[Fatal familiar insomnia: clinical, neurophysiological and histopathological study of two cases].
Neurologia (Barcelona, Spain) - 1 Oct 2006
Ayuso Blanco T, Urriza Mena J, Caballero Martínez C, Iriarte Franco J, Munoz R, García-Bragado F
Abstract excerpt
INTRODUCTION: Family prion diseases are caused by mutations in the gene coding the prion protein (PrP), originating an altered isoform called prion. One of the most uncommon is the fatal familial insomnia (FFI), an entity characterized by sleep disorders and that is associated to a mutation in codon 178. METHODS: We have studied two male patients, aged 43 and 49 years respectively, from the same family. RESULTS:...
Topics
- Adult
- Fatal Outcome
- Genotype
- Humans
- Insomnia, Fatal Familial
- Male
- Middle Aged
- Phenotype
- Polysomnography