Table 1.

Clinical, neuropathological and biochemical features of the V189I carriers

	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