NR AGYT
AU Ladogana,A.; Almonti,S.; Petraroli,R.; Giaccaglini,E.; Ciarmatori,C.; Liu,Q.G.; Bevivino,S.; Squitieri,F.; Pocchiari,M.
TI Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease
QU American Journal of Medical Genetics 2001 Oct 1; 103(2): 133-7
PT journal article
AB 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.
MH Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Case Report; Codon/*genetics; Creutzfeldt-Jakob Syndrome/*genetics; DNA/chemistry/genetics; DNA Mutational Analysis; Family Health; Female; Human; Male; Mutation; Pedigree; Point Mutation; PrPsc Proteins/*genetics; Support, Non-U.S. Gov't
AD Laboratory of Virology, Istituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy.
SP englisch
PO USA