1 | 1/III-1 | F | Yes | 43 | Depression | Ataxia, dysarthria, vertical nystagmus, abnormal ocular movements, pyramidalism | No | NP | N | NP | D178N 129MV | ? | NP | CJD (ataxic) | NP |
2 | 2/IV-3 | F | Yes | 62 | Depression | Ataxia, abnormal ocular movements, pyramidalism, myoclonus, dementia | Yes (late) | NP | N | NP | D178N 129MM | 14 m | NP | CJD (ataxic) | NP |
3 | 2/IV-4 | M | Yes | 55 | Acalculia | Afasia, alexia, dementia | No | NP | N | NP | D178N 129MM | 12 m | Diffuse | CJD | NP |
| | | | | | | | | | | | | spongiform degeneration | | |
4 | 2/IV-10 | F | Yes | 54 | Ataxia | Diplopia, pyramidalism, dystonia, dementia | Yes (late) | NP | N | NP | D178N 129MM | 10 m | NP | CJD (ataxic) | NP |
5 | 2/V-1 | F | Yes | 41 | Anxiety Nervousness | Hallucinations, memory loss, paranoia, insomnia, diaphoresis hyperthermia, tachycardia, dysarthria, nystagmus, myoclonus, dementia | Yes (early) | NP | N | (−) | D178N 129MM | 14 m | NP | FFI | NP |
6 | 2/V-6 | F | Yes | 37 | Insomnia | Tremor, diplopia, strabismus, memory loss | Yes (early) | NP | N | NP | D178N 129MM | 14 m | NP | FFI | NP |
7 | 3/III-3 | M | Yes | 48 | Apathy Nervousness | Tremor, hyperthermia, sexual dysfunction, insomnia, arterial hypertension, paroxysmal diaphoresis, tachycardia, ataxia, pyramidalism, myoclonus, hallucinations, dementia | Yes (early) | Thalamic hypo-metabolism | N | NP | D178N 129MM | 18 m | Thalamo-olivary degeneration, mild cortical and basal ganglia spongiosis | FFI | (−) |
8 | 4/III-5 | M | Yes | 62 | Apraxia | Loss of verbal fluency, apraxia, agraphia, imitation behaviour, dementia | No | Frontal hypo-perfusion | N | + (haematic CSF) | D178N 129MM | 14 m | Diffuse spongiform degeneration | CJD | (+) |
9 | 4/III-6 | M | Yes | 54 | Blurred vision Diplopia | Nystagmus, ocular flutter insomnia, ataxia, dysarthria, dementia | Yes (early) | Thalamic hypo-perfusion | N | (−) | D178N 129MM | 14 m | Thalamo-olivary degeneration | FFI | (−) |
10 | 5/III-1 | M | Yes | 58 | Ataxia | Arterial hypertension, tachycardia, irregular respiration, dementia | No | N | N | NP | D178N 129MV | 40 m | NP | CJD (ataxic) | NP |
11 | 5/III-2 | M | Yes | 50 | Ataxia | Abnormal ocular movements, dysarthria, depression, insomnia, nocturnal agitation, weight loss, diaphoresis, dementia | Yes (early) | N | N | NP | D178N 129MV | 19 m | NP | FFI | NP |
12 | 6/II-5 | F | Yes | 76 | Insomnia | Dysarthria, diaphoresis, inattention, disorientation, gait ataxia, dementia | Yes (early) | NP | N | NP | D178N 129MM | 8 m | Thalamic, olivary and cerebellar degeneration | FFI | (+) |
13 | 6/II-7 | F | Yes | 69 | Ataxia | Dysarthria, dysmetria, dysphagia | No | NP | N | NP | D178N 129MM | 18 m | NP | CJD | NP |
14 | 6/III-9 | F | Yes | 43 | Depression Apathy Anxiety | Weight loss, hyperthermia, diaphoresis, tremor, dysarthria, ataxia, Myoclonus, pyramidalism, dementia | No | ? | ? | NP | D178N 129MM | 12 m | Thalamo-olivary degeneration, mild cerebellar changes | FFI | (−) |
15 | 6/III-12 | F | Yes | 38 | Anxiety Nervousness | Tremor, dysarthria, ataxia, memory loss | No | NP | N | NP | D178N 129MM | 10 m | NP | CJD | NP |
16 | 7/IV-5 | F | Yes | 59 | Anxiety | Diurnal hypersomnia, nocturnal insomnia, inattention, tremor, myoclonus, dementia | Yes (early) | Thalamic hypo-metabolism | N | (−) | D178N 129MM | 12 m | Thalamo-olivary degeneration | FFI | (+) |
17 | 7/IV-10 | M | Yes | 38 | Memory loss | Ataxia, visual disturbances, pyramidalism, dysmetria, startle reaction, hypertermia, diaphoresis, hypersomnia, dementia | No | NP | N | NP | D178N 129MV | 15 m | NP | CJD | NP |
18 | 8/III-1 | M | Yes | 54 | Insomnia | Hypersomnia, restless sleep, diplopia, myoclonus, asterixis, startle reaction, memory loss, dementia | Yes (early) | NP | N | NP | D178M 129MM | 6 m | Thalamo-olivary degeneration | FFI | NP |
19 | 9/II-3 | F | No | 62 | Ataxia Diplopia | Insomnia, hallucinations, delirium, nocturnal agitation, dysmetria | Yes (early) | N | Basal ganglia hyper signal | NP | D178N 129MM | 6 m | Diffuse spongiform degeneration | FFI | (+) |
20 | 10/III-2 | M | Yes | 54 | Ataxia | Dysarthria, myoclonus, pyramidalism, hallucinations, dementia | No | NP | N | (−) | D178N 129MV | 15 m | Thalamo-olivary degeneration, mild cortical spongiosis | FFI | (−) |
21 | 11/III-1 | F | Yes | 56 | Blurred vision | Anxiety, dysarthria, dysphagia, tremor, diplopia, dysmetria, ataxia, memory loss | No | NP | N | NP | D178N 129MM | 20 m | Olivo-cerebellar degeneration | CJD | (−) |
22 | 12/III-1 | M | Yes | 58 | Memory loss | Insomnia, diaphoresis, tremor, myoclonus, dementia | Yes (early) | Thalamic hypo-perfusion | N | (−) | D178N 129MM | 8 m | Thalamic, olivary and cerebellar degeneration | FFI | (−) |
23 | 15/II-2 | F | No | 71 | Aphasia | Sensory and visual right neglect, pyramidalism, myoclonus, disorientation, agitation, mutism, dementia | No | NP | N | (+) | D178N 129MV | 2 m | Diffuse spongiform degeneration | CJD | (+) |