disease 2,402 words KG: ent-dise-0143a9ef
Contents

creutzfeldt-jakob

Disease Info
Prevalence~1-2 per million per year
Mean age of onset60-65 years
Median survival4-6 months (90% die within 1 year)
CauseUnknown; possibly spontaneous misfolding of PrP^C or somatic *PRNP* mutations
E200K mutationMost common worldwide; similar clinical presentation to sCJD but with younger onset
D178N with valine at codon 129Produces familial CJD phenotype
D178N with methionine at codon 129Produces fatal familial insomnia (FFI) phenotype
V210I, R208H, E196KOther pathogenic mutations with varying penetrance
Pituitary-derived growth hormoneOver 200 cases worldwide before recombinant hormone became available
Corneal transplantsRare cases documented
Contaminated neurosurgical instrumentsHistorical cases; standard autoclaving is insufficient for prion inactivation
Blood transfusionFour confirmed cases of vCJD transmission in the UK
DatabasesOMIMOrphanetClinicalTrialsPubMed

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