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 |