Publications by authors named "Ron Druyeh"
Patients with iatrogenic Creutzfeldt-Jakob disease due to administration of cadaver-sourced growth hormone during childhood are still being seen in the UK 30 years after cessation of this treatment. Of the 77 patients who have developed iatrogenic Creutzfeldt-Jakob disease, 56 have been genotyped. There has been a marked change in genotype profile at polymorphic codon 129 of the prion protein gene (PRNP) from predominantly valine homozygous to a mixed picture of methionine homozygous and methionine-valine heterozygous over time.
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- * The study utilized a variety of genetic analysis methods on large patient cohorts, confirming that p.R47H is associated with earlier symptom onset in AD patients but does not influence frontotemporal dementia or Creutzfeldt-Jakob disease.
- * Overall, the findings emphasize that while p.R47H is linked to increased risk for AD, it does not affect other neurodegenerative disorders studied.