Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.

doi:10.1212/wnl.42.3.669

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Article

Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.

Neurology - 1 Mar 1992

Medori R, Montagna P, Tritschler H J, LeBlanc A, Cortelli P, Tinuper P, Lugaresi E, Gambetti P

Abstract excerpt

Fatal familial insomnia (FFI), a condition characterized by inability to sleep, dysautonomia, motor disturbances, and selective thalamic atrophy is a prion disease linked to a GAC----AAC mutation at codon 178 of the prion gene. These data were obtained from one kindred. We now report a second kin...

Topics

Base Sequence
Codon
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
PrPSc Proteins
Prions
Sleep Initiation and Maintenance Disorders

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