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Table 1 Demographic and clinical features of homozygous PRNP mutations in the literature

From: Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease

  Present study
Spanish family Portuguese family [14] Beck et al [11] Komatsu et al [12] Simon et al [10] Hassan et al [27]
Gender 2 female 2 male/1 female Female Female 3 male/2 female Male
Country Spain Portugal Ireland Japan Libya China
Family history Yes Yes (siblings) No (grandmother with dementia in later life) No Yes Unknown
PRNP mutation R136S R136S Q212P V203I E200K E200D
Polymorhism codon 129 MM MM MM MM Unknown MM
Phenotype Gerstmann-Sträussler-Scheinker Gerstmann-Sträussler-Scheinker Unknown genetic Creutzfeldt Jakob’s disease genetic Creutzfeldt Jakob’s disease Unknown
Cosanguinity Yes Unknown Probable Yes Unknown Probable
Age at onset (years) 43.5 ± 5.5 52 (female) 36 73 50.4 ± 6.2 61
Age of death (years) 50.5 ± 2.5 49.6 ± 6.4 Unknown 75 50.8 ± 8.2 61
Disease duration 7.25 ± 2.75 years 4 years 4 years 2 years 15.8 ± 15.9 years 10 weeks
Clinical symptoms Progressive memory decline (2/2), language (1/2), executive disturbances (2/2) Psychiatric symptoms, myoclonous, Parkinsonian symptoms, and progressive dementia Dysarthria, ataxia, nystagmus, and executive dysfunction Gait disturbance, cognitive dysfunction Dementia (5/5), personality change (2/5), parkinsonism (4/5); myoclonus (2/5), gait ataxia (2/5), and dysarthria (3/5) Confusion, dysarthria, ataxia, myoclonus, and hallucinations
14-3-3 protein Negative Negative Unknown Positive Unknown Negative
MRI brain Normal Normal Moderate cerebral atrophy Hyperintensity in basal ganglia and right frontal, parietal and occipital lobes Unknown Abnormal symmetric restricted bilateral diffusion in the striatum and cortex
EEG Unknown Lentified Mildly abnormal Diffuse slowing of waves 3/5 abnormal Mild slowing only, with no periodic sharp ware complexes
Neuropathology Multicentric amyloid PrP plaques, prominent neuronal loss, astrogliosis, and microglial proliferation Multicentric amyloid PrP plaques, mild neuritic component, and microglial activation N/A N/A 1/2 did not display PrPres N/A
PrP Western blotting ~ 8 kDa band 8 kDa and 5 kDa band N/A N/A N/A N/A
In vivo transmissibility studies Negative N/A N/A N/A N/A N/A
In vitro propagation studies Negative N/A N/A N/A N/A N/A