Distinct pathological phenotypes of Creutzfeldt-Jakob disease in recipients of prion-contaminated growth hormone

• DOI: 10.1186/s40478-015-0214-2
• Publication Date: 2015-06-24T08:55:00Z
• Authors: Ignazio Cali; Cathleen J. Miller; Joseph E. Parisi; Michael D. Geschwind; Pierluigi Gambetti; Lawrence B. Schon...
• Keywords: Fatal familial insomnia; PRNP; Kuru; Creutzfeldt-Jakob Syndrome; Slow virus

The present study compares the clinical, pathological and molecular features of a United States (US) case growth hormone (GH)-associated Creutzfeldt-Jakob disease (GH-CJD) (index case) to those two earlier referred US cases GH-CJD one dura mater (d)-associated CJD (dCJD). All iatrogenic (iCJD) subjects were methionine (M) homozygous at codon 129 (129MM) prion protein (PrP) gene had scrapie (PrPSc) type 1 (iCJDMM1). index subject presented with ataxia, weight loss changes in sleep pattern about 38 years after midpoint GH treatment. Autopsy examination revealed neuropathological phenotype reminiscent both sCJDMV2-K (a sporadic subtype methionine/valine heterozygous PrPSc 2 presence kuru plaques) variant (vCJD). GH-CJDMM1 dCJDMM1 associated phenotypes that differed from mainly because they lacked PrP plaques. shared several, but not all, characteristics sCJDMM1, whereas was phenotypically indistinguishable sCJDMM1. Two distinct groups have also been described Japan based on clinical features, or absence plaques PK-resistant (resPrPSc) electrophoretic mobilities. resPrPSc mobility was, however, identical our cases, matched Our shows receipt prion-contaminated can lead (129MM 2) phenotypic differ (sCJDMM1), difference may reflect adaptation "heterologous" strains 129MM background.