title: Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease.
abstract: Creutzfeldt-Jakob disease (CJD) belongs to a group of chronic, progressive, neurodegenerative disorders that may be hereditary, infectious, or sporadic. Hereditary CJDs are associated with mutations in the PRNP gene on chromosome 20p12-pter. We report a family in which four patients developed classical clinical signs of CJD, including severe cognitive decline, cerebellar signs, myoclonic jerks, and synchronic periodic discharges on electroencephalogram. The E211Q mutation has been identified in family members, but not in 97 sporadic CJD patients referred to the Italian registry of CJD nor in 205 healthy normal subjects, suggesting a pathogenic role for this mutation.
authors.affiliation: Laboratory of Virology, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ladogana
authors.forename: S
authors.initials: S
authors.lastname: Almonti
authors.forename: R
authors.initials: R
authors.lastname: Petraroli
authors.forename: E
authors.initials: E
authors.lastname: Giaccaglini
authors.forename: C
authors.initials: C
authors.lastname: Ciarmatori
authors.forename: Q G
authors.initials: QG
authors.lastname: Liù
authors.forename: S
authors.initials: S
authors.lastname: Bevivino
authors.forename: F
authors.initials: F
authors.lastname: Squitieri
authors.forename: M
authors.initials: M
authors.lastname: Pocchiari
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D018620:PrPSc Proteins / Q000235:genetics*
chemical_list: D003062:Codon; D018620:PrPSc Proteins; D004247:DNA