Skip to main content

Table 1 Clinical, molecular and pathological features of the iatrogenic CJD patients of this study and sporadic CJDMM1

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

Prion disease GH-CJDMM1 GH-CJDMM1 GH-CJDMM1 dCJDMM1 sCJDMM1 (203 cases)a
Case 1 (index case) 2 3 4  
Clinical data      
Disease presentation Ataxia, weight loss and insomnia. Ataxia and slurred speech. Left leg numbness with broad based gait. Visual changes and ataxic gait. Rapidly progressive cognitive decline; occasionally cortical visual disturbances, ataxia, and myoclonus.
Age (years)/gender 50/male 54/male 40/female 39/female 65.5b (42–91)c
Disease duration (months) 14 2 2 4 3.9b (1–18)c
Incubation time (years) 38d 41.5d 26.3d 6e  
Molecular features      
resPrPSc type 1 1 1 1 1
Codon 129 genotype Met/Met Met/Met Met/Met Met/Met Met/Met
Histopathology (differences with sCJDMM1 underlined)      
PrP plaques      
Kuru +++ - - - -
Florid + - - - -
Eosinophilic +++ - - - -
SDf/gliosis      
Severity      
Hippocampus ++/− −/− −/− −/− −/−
SNg of midbrain ++/+++ −/− −/− −/− −/−
Topography (SD only) Severe in subcortical regions; preferentially in layers IV-VI of cerebral cortex (cc); cerebellar molecular layer, focal. Less severe in occipital than frontal cc; entorhinal cc and basal ganglia spared; occasionally most severe in deep layers of the cc; cerebellar molecular layer, focal. More severe in occipital than frontal cc; entorhinal cc and basal ganglia affected; occasionally most severe in deep layers of cc; cerebellar molecular layer, ubiquitous. All layers of cc affected; more severe in occipital than frontal cc; entorhinal cc and basal ganglia affected; cerebellar molecular layer, focal. All layers of cc affected; more severe in the occipital than frontal cc; entorhinal cc and basal ganglia affected; cerebellar molecular layer, focal.
PrP IHCh cerebellum PrP “stellate”, kuru plaques, plaque-like; occasionally “brush stroke-like”. “brush stroke-like” “brush stroke-like” “brush stroke-like” “brush stroke-like”
  1. a[19, 46]; bmean; crange; considered from the dthe midpoint of treatment with GH or ethe time of grafting surgery to the appearance of the first clinical sign/symptoms; fSD: spongiform degeneration; gSN: substantia nigra; hIHC: immunohistochemistry; (−) absent, (+) mild, (++) moderate, (+++) severe