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) |