Table 1. Age of onset, sex, duration of illness and clinical features of 38 European FFI cases

Case ID / Age of onset / Sex / Duration of illness
(months) / Presenting clinical features / Other investigations / Source
S-01 / 38 / F / 10 / Anxiety (1), nervousness (1), tremor, dysarthria, ataxia, memory loss / Not performed / Case 6/III-12 [1]
S-02 / 69 / F / 18 / Ataxia (1), dysarthria, dysmetria, dysphagia / Not performed / Case 6/II-7 [1]
S-03 / 54 / M / 15 / Ataxia (1), dysarthria, myoclonus, pyramidal signs, hallucinations, dementia / Thalamo-olivary degeneration, mild cortical spongiosis
CSF 14-3-3: negative
negative IHC PrPres detection / Case 10/III-2 [1]
S-04 / 76 / F / 8 / Insomnia (1), dysarthria, dyaphoresis, inattention, disorientation, gait ataxia, dementia / Thalamo-olivary and cerebellar degeneration / Case 6/II-5 [1]
S-05 / 43 / F / 12 / Depression (1), apathy (1), anxiety (1), weight loss, hyperthermia, diaphoresis, tremor dysarthria, ataxia, myoclonus / Thalamo-olivary degeneration, mild cerebellar changes, negative IHC PrPres detection / Case 6/III-9 [1]
S-06 / 56 / F / 20 / Blurred vision (1), anxiety, dysarthria, dysphagia, tremor, diplopia, dysmetria, ataxia, memory loss / Olivo-cerebellar degeneration / Case 11/III-1 [1]
S-07 / F / NP / Asymptomatic carrier
S-08 / 54 / M / 14 / Blurred vision (1), diplopia (1), nystagmus, ocular flutter, insomnia, ataxia, dysarthria, dementia / PET/SPECT: thalamic hypoperfusion
CSF 14-3-3: negative
Thalamo-olivary degeneration
negative IHC PrPres detection / Case 4/III-6 [1]
S-09 / 62 / M / 14 / Apraxia (1), loss of verbal fluency, agraphia, imitation behaviour, dementia / PET/SPECT: frontal hypoperfusion
CSF 14-3-3: positive (haematic CSF)
Diffuse spongiform degeneration
Positive IHC PrPres detection / Case 4/III-5 [1]
S-10 / 59 / F / 12 / Anxiety (1), diurnal hypersomnia, nocturnal insomnia, inattention, tremor, myoclonus, dementia / PET/SPECT: thalamic hypometabolism
CSF 14-3-3: negative
Thalamo-olivary degeneration
Positive IHC PrPres detection / Case 7/IV-5 [1]
S-11 / M / NP / Asymptomatic carrier
S-12 / 58 / M / 8 / Memory loss (1), insomnia, diaphoresis, tremor, myoclonus, dementia / PET/SPECT: Thalamic hypoperfusion
CSF 14-3-3: negative
Thalamic, olivary and cerebellar degeneration
Negative IHC PrPres detection / Case 12/III-1 [1]
S-13 / 50 / M / 19 / Ataxia (1), abnormal ocular movements, dysarthria, depression, insomnia, nocturnal agitation, weight loss, diaphoresis, dementia / Not performed / Case 5/III-2 [1]
S-14 / 58 / M / 40 / Ataxia (1), arterial hypertension, tachycardia, irregular respiration, dementia / Not performed / Case 5/III-1 [1]
Case ID / Age of onset / Sex / Duration of illness
(months) / Presenting clinical features / Other investigations / Source
S-15 / 38 / M / 5 / Parkinsonism (1), dementia, myoclonus, sleep disturbances (insomnia), dysautonomia / CSF 14-3-3: negative
EEG: abnormal slow rhythms but no PSWC
Confirmed at autopsy (FFI)
MRI: normal / Data from the authors
S-16 / 46 / F / 13 / Depression (1), dementia, dysautonomia, insomnia, dystonia parkinsonism / No autopsy
EEG: abnormal slow rhythms but no PSWC
PSG:+
MRI: normal / Data from the authors
S-17 / 47 / M / 18 / Sleep disturbances (insomnia) (1), ataxia, dementia, parkinsonism / No autopsy
PSG + / Data from the authors
S-18 / 55 / F / ? / Sleep disturbances (insomnia) (1) / No autopsy
PSG + / Data from the authors
S-19 / 49 / F / 3 / Ataxia (1), dementia, myoclonus, abnormal ocular movements / Confirmed at autopsy (FFI)
EEG: abnormal abnormal slow rhythms, but no PSWC
PSG +
MRI: normal / Data from the authors
S-20 / 83.4 / F / 14.10 / Rapidly progressive dementia (1), ataxia / Negative 14-3-3 test / Data from the authors
S-21 / 70.6 /

F

/ 9.10 / Rapidly progressive dementia (1), neuropsychiatric symptoms / Not performed / Data from the authors
S-22 / 52.5 / M / 17.0 / Cerebelar symptoms (1), ataxia / Negative 14-3-3 test / Data from the authors
S-23 / 39.5 / M / ? / Insomnia and mioclonus (1), ataxia, visual alterations / Negative 14-3-3 test / Data from the authors
S-24 / NP / F / NP / Asymptomatic carrier / Data from the authors
S-25 / 41.4 / M / 17.2 / Ataxia and neuropsiquiatric symptoms (1), visual alterations / Negative 14-3-3 test / Data from the authors
I-01 / 52 / M / 8 / Apathy and disinterest, insomnia, impotence weight loss / Polysomnography: early and progressive reduction in sleep spindles and K complexes, severe fragmentation and reduction of sleep time, with continuous subwakefulness interrupted by sudden-onset episodes of rapid-eye-movement (REM) sleep with or without atonia lasting a few seconds or minutes
EEG: flat monomorphic slow activity
FDG PET: hypometabolism of the thalamus and cingulated cortex / [2- 5]
I-02 / 56 / M / 23 / Insomnia, impotence, ocular disturbances, weight loss, ataxia / Polysomnography: progressive reductions in sleep time and slow-wave sleep associated with non-REM and less frequently REM sleep episodes with or without atonia directly arising from wakefulness
EEG: PSW at a later stage
Case ID / Age of onset / Sex / Duration of illness
(months) / Presenting clinical features / Other investigations / Source
I-03 / 61 / M / 8 / Change in behaviour, insomnia, impotence, increased sweating, heart rate, blood pressure / Polysomnography: compatible
EEG flat monomorphic slow activity
FDG PET: hypometabolism of the thalamus and cingulate cortex, basal and lateral frontal cortex / [2-5]
I-04 / 57 / F / 33 / Insomnia and gait instability, slurred speech / Polysomnography: compatible
EEG: late PSW
Visual, brain stem, somatosensory evoked potential, CT scan and EMG normal
FDG PET: hypometabolism of the thalamus and cingulate cortex, basal and lateral frontal cortex, putamen, cerebellar cortex (at 7 months duration)
G-01 / 56 / M / 21 / Not available / - / -
G-02 / 65 / F / 10 / Sleep disturbances (1), vegetative symptoms (1), extrapyramidal and pyramidal signs, myoclonus, visual and acoustic hallucinations, cognitive decline and weight loss / Not available / Data from the authors
G-03 / 23 / M / 10 / Sleep disturbances (1), cognitive decline (1), ataxia, dysarthria, vegetative symptoms and visual hallucinations / Not available / Data from the authors
G-04 / 52 / M / 15 / Huskiness (1), ataxia, dysarthria, pyramidal signs, visual alterations, vegetative symptoms, sleep disturbances, visual hallucinations, cognitive decline, weight loss / Not available / Data from the authors
G-05 / 51 / M / 6 / Vegetative symptoms (1), sleep disturbances (1), ataxia, pyramidal and extrapyramidal signs, myoclonus, visual hallucinations, cognitive decline / Not available / Data from the authors
G-06 / 64 / M / 6 / Vegetative symptoms (1), ataxia, dysarthria, pyramidal signs, sleep disturbances, myoclonus, visual hallucinations, cognitive decline, weight loss / Not available / Data from the authors
G-07 / 60 / M / 15 / Visual alterations (1), ataxia, dysarthria, vegetative symptoms, sleep disturbances, myoclonus, visual hallucinations, cognitive decline, weight loss / Not available / Data from the authors
G-08 / 23 / M / 23 / Sleep disturbances (1), ataxia, dysarthria, extrapyramidal signs, visual alterations, vegetative symptoms, visual hallucinations, cognitive decline, weight loss / Not available / Data from the authors
G-09 / 62 / M / 15 / Ataxia (1), visual (1), vegetative symptoms (1), dysarthria, pyramidal signs, vegetative symptoms, sleep disturbances, cognitive decline, weight loss / Not available / Data from the authors

NP, not presenting; (1) denotes the first clinical symptoms observed

Sources

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