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Table 1 Basic demographic and clinical features

From: Sporadic Creutzfeldt-Jakob disease VM1: phenotypic and molecular characterization of a novel subtype of human prion disease

Case-country

Sex

AAO

(yrs.)

DD

(mos.)

Symptoms at onset

Symptoms during disease course

EEG

DW-MRI

CSF analyses

14–3-3 protein

RT-QuIC

#1-ES

F

78

10

Rapidly progressive dementia

Gait ataxia, myoclonus, mixed rest and postural tremor, limb apraxia

Unspecific

Cortical hyperintensities

 + 

n.p

#2-ES

M

78

24

Cognitive decline

Hallucinations, emotional lability, parkinsonism, myoclonus

n.p

n.p

 + 

n.p

#3-ES

M

73

18

Progressive hemi-hypoestesia, gait disorder, parkinsonism, myoclonus

Rapidly progressive cognitive decline, executive dysfunction, emotional lability

Unspecific diffuse slowing

Cortical hyperintensities

 + 

n.p

#4-ES

M

82

21

Dizziness, gait disturbance, subacute hemiparesis, focal seizures

Bradykinesia, gait apraxia, dysarthria, rapidly progressive cognitive decline, apathy, myoclonus, akinetic mutism

Focal slowing

Cortical hyperintensities

 + 

 + (PQ) 

#5-IT

M

70

28

Rapidly progressive parkinsonism

Cerebellar ataxia, memory loss, visual hallucination, delirium, akinetic mutism

Unspecific diffuse slowing

Cortical hyperintensities

 + 

 + (both PQ and IQ)

#6-IT

M

67

22

Excessive daytime sleepiness, blurred vision, dizziness

Rapidly progressive behavioral alteration and cognitive decline, cerebellar ataxia, myoclonus, akinetic mutism

Unspecific diffuse slowing

Cortical hyperintensities

 _ 

 + (PQ); − (IQ)

  1. ES Spain, IT Italy, F female, M male, AAO age at disease onset, yrs years, DD disease duration, mos. months, EEG electroencephalography, DW-MRI diffusion-weighted magnetic resonance imaging, + positive, − negative, n.p not performed, CSF cerebrospinal fluid, RT-QuIC real-time quaking-induced conversion, PQ previous QuIC protocol (Ha rPrP23-231), IQ improved QuIC protocol (Ha rPrP90-231)