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Table 1 Clinical, neuropathological and biochemical features of the V189I carriers

From: Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene

  Case 1 Case 2 Case 3 Case 4
Family history for CJD Yes Yes No No
Gender Female Female Male Male
Age at onset 74 yrs 78 yrs 71 yrs 69 yrs
Disease duration 5 mo 33 mo 4 mo 4 mo
Symptoms at onset Visual hallucinations, abnormal behavior Ataxia, cognitive impairment Short-term memory deficits, fluctuating confusion, depression Ataxia, writing difficulties and behavior changes
Myoclonus + +
Other neurological findings Speech impairment and asymmetric pyramidal signs Extrapyramidal syndrome, visual hallucinations, abnormal behavior Ataxia, cerebellar deficits Cerebellar deficits
EEG Background delta rhythm and recurrent theta sharp waves Diffuse slowing of the background activity Inconstant bilateral periodic sharp wave complexes Theta-delta activity in fronto-temporal regions without PSWs
MRI High signal in caudate heads and diffuse hyperintensity in the cortex in DWI images Diffuse cortical atrophy mainly involving left frontal and temporal lobi Hyperintensity in DWI images in frontal and parietal right cortex and in right cingulus Hyperintensity in DWI sequences in bilateral fronto-parietal and left insular cortices and in the right thalamus
CSF analysis 14–3-3 positive 14–3-3 negative 14–3-3 positive 14–3-3 weakly positive
Tau 3433 pg/ml Tau 392 pg/ml Tau 9250 pg/ml Tau 1780 pg/ml
CSF RT-QuIC assay + + + n/a
M/V polymorphism at 129 PRNP codon M/M M/V M/M M/M
Histological and immunohistochemical findings Diffuse spongiosis, cell loss and gliosis; diffuse, finely granular, synaptic-type PrP immunoreactivity n/a Diffuse spongiform changes; faint synaptic deposition in the cerebrum, molecular layer of the cerebellum, thalamus and striatum Diffuse microspongiosis with relative sparing of hippocampus and brainstem; faint synaptic PrPSc deposition
PrP type Type 1 n/a Type 1 Type 1