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

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 PrP^Sc deposition

PrP type

Type 1

n/a

Type 1

Type 1