Article
Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene.
Brain pathology (Zurich, Switzerland) - 1 Jul 1998
Montagna P, Cortelli P, Avoni P, Tinuper P, Plazzi G, Gallassi R, Portaluppi F, Julien J, Vital C, Delisle M B, Gambetti P, Lugaresi E
Abstract excerpt
Fatal Familial Insomnia is a hereditary prion disease characterized by a mutation at codon 178 of the prion protein gene cosegregating with the methionine polymorphism at codon 129 of the mutated allele. It is characterized by disturbances of the wake-sleep cycle, dysautonomia and somatomotor man...
Topics
- Adult
- Autonomic Nervous System Diseases
- Circadian Rhythm
- Electroencephalography
- Endocrine System Diseases
- Female
- Humans
- Male
- Middle Aged
- Phenotype
- Polymorphism, Genetic
- Polysomnography
- Prion Diseases
- Prions