Genotype at codon 129 and susceptibility to Creutzfeldt-Jakob disease

We report the course of a French cohort of patients treated with growth hormone purified from human hypophyses (hGH) contaminated with the Creutzfeldt-Jakob disease (CJD) agent. 51 of the 54 confirmed probable cases of CJD in this cohort have been studied by methods that include allele-specific oligonucleotide hybridisation and sequencing of the open reading frame of the PRNP gene. The distribution of genotype at codon 129 is shown in the figure. In the Met/Met and Val/Val groups, the number of cases peaked in 1992, 8 years after growth-hormone treatment. In the Met/Val group (six cases) the earliest was identified in 1994, 5 years after the first patients in the RESEARCH LETTERS