title: Fatal familial insomnia: genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred.
abstract: Fatal familial insomnia (FFI) is an inherited prion disease linked to a mutation at codon 178 of the PRNP gene that results in aspartic acid to asparagine substitution, in coupling phase with methionine at position 129. The disease is characterized clinically by insomnia with disturbances of the autonomic, endocrine, and motor systems and neuropathologically by selective degeneration of the thalamus. Phenotypic variability is well known and has been linked to homozygosity or heterozygosity at PRNP codon 129. We report the clinical, neuropathologic, and biochemical findings and genomic analysis of a patient with FFI from a new Italian kindred. Although homozygous for methionine at codon 129, this patient showed some clinical and pathologic features most commonly found in heterozygotes.
authors.affiliation: Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Rossi
authors.forename: G
authors.initials: G
authors.lastname: Macchi
authors.forename: M
authors.initials: M
authors.lastname: Porro
authors.forename: G
authors.initials: G
authors.lastname: Giaccone
authors.forename: M
authors.initials: M
authors.lastname: Bugiani
authors.forename: E
authors.initials: E
authors.lastname: Scarpini
authors.forename: G
authors.initials: G
authors.lastname: Scarlato
authors.forename: G E
authors.initials: GE
authors.lastname: Molini
authors.forename: F
authors.initials: F
authors.lastname: Sasanelli
authors.forename: O
authors.initials: O
authors.lastname: Bugiani
authors.forename: F
authors.initials: F
authors.lastname: Tagliavini
mesh_terms: D015153:Blotting, Western; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D010446:Peptide Fragments / Q000378:metabolism; D011328:Prions / Q000378:metabolism; D007319:Sleep Initiation and Maintenance Disorders / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D013788:Thalamus / Q000473:pathology; D014018:Tissue Distribution
chemical_list: D010446:Peptide Fragments; D011328:Prions