Table 1 Characteristics of CJD patients carrying the R208H-129 VV haplotype
CJD casesa | |||||
|---|---|---|---|---|---|
1 | 2 | 3 | 4 | ||
Country | France | Czech Republic | Italy | Italy | |
Sex/Age at onset (years) | M/61 | F/62 | F/62 | F/63 | |
Family history for CJD/dementia | No/No | No/No | No/No | No/Yes | |
Disease duration (months) | 7 | 16 | 9 | 30 | |
Symptom at onset | Psychiatric symptoms | Lower back pain, gait disturbances | Akinesia, postural and psychiatric symptoms | Psychiatric symptoms | |
Clinical signs | Cognitive impairment | Yes | Yes | Yes | Yes |
Cerebellar | Yes | No | No | Yes | |
Visual | No | No | No | No | |
Pyramidal/Extrapyramidal | No | Yes | Yes | Yes | |
Myoclonus | No | Yes | No | Yes | |
Akinetic mutism | Yes | No | Yes | Yes | |
Diagnostic features (months from onset) | MMSE | Not reported | 29/30 (8) 17/30 (10) | 12/30 (3) | 21/30 (4) |
EEG typical for CJDb | No (5) | Yes (8) | No (5) | Yes (7) | |
Brain MRI typical for CJDc | No (5) | Yes (8) | Yes (4) | Yes (4) | |
14-3-3 in CSF | Negative (5) | Positive (10) | Negative (6) | Positive (7) | |
RT-QuIC in the CSF | Not done | Not done | Negative (6) | Positive (7) | |
PrPCJD type | Type 2A | Type 2A | Not done | Type 2A | |
Neuropathology | Spongiform changes in frontal cortex and striatum; gliosis in striatum and thalamus; Kuru plaques in cerebellum | Spongiform changes in frontal cortex; plaque-like structures in cerebral and cerebellar cortices, and basal ganglia | Not done | Status spongiosus in cerebral cortex, striatum, thalamus and cerebellum; severe astrogliosis in white matter; unicentric amyloid plaques in the cerebellum | |