RT Journal Article
SR Electronic
T1 Iatrogenic Creutzfeldt‐Jakob disease
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 291
OP 291
DO 10.1212/WNL.44.2.291
VO 44
IS 2
A1 P. Brown
A1 L. Cervenáková
A1 L. G. Goldfarb
A1 W. R. McCombie
A1 R. Rubenstein
A1 R. G. Will
A1 M. Pocchiari
A1 J. F. Martinez-Lage
A1 C. Scalici
A1 C. Masullo
A1 G. Graupera
A1 J. Ligan
A1 D. C. Gajdusek
YR 1994
UL http://n.neurology.org/content/44/2/291.abstract
AB We tested DNA from 15 centrally infected cases of iatrogenic Creutzfeldt-Jakob disease (CJD) (dura mater or corneal homografts and stereotactic EEG electrodes), 11 peripherally infected cases (native human growth hormone or gonadotrophin), and 110 control individuals for the presence of mutations in the chromosome 20 amyloid gene. No patient or control had any of the known pathogenic point or insert mutations found in familial disease, but allelic homozygosity at polymorphic codon 129 was present in all but two (92%) of the 26 patients, compared with 54 (50%) of the 110 controls (p < 0.001). Pooled data from all identified and tested cases of iatrogenic disease yielded a worldwide total of 56 patients, of whom all but four were homozygous at codon 129 (p < 0.001). These findings support the thesis that homozygosity at codon 129 enhances susceptibility to iatrogenic infections of both central and peripheral origin, with evident implications for the population of dura mater homograft and pituitary hormone recipients whose lives have been complicated by the possibility of exposure to the infectious agent of CJD.