TABLE 1.
Patient characteristics, codon 129 polymorphism, presence of periodic sharp wave complexes on electroencephalogram and CSF 14-3-3 protein, associated clinical signs/syndromes, time between symptom onset and PET, and lateralization of PET hypometabolism.
| Patient nr | Sex | Age | codon 129 | PSWC | 14-3-3 | Ataxia | Visual | Pyramidal | Myoclonus | Apraxia | Dystonia | Sensory | Parkinsonism | CBS | Time onset-PET (days) | Lateralisation of PET hypometabolism |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 54 | Met/Met | + | + | Y | Y | Y | N | Y | N | N | N | N | 75 | L |
| 2 | M | 86 | Met/Met | + | + | N | N | N | Y | N | Y | N | N | N | 66 | L |
| 3 | F | 52 | Met/Met | + | + | Y | N | N | N | Y | Y | N | N | Y | 77 | L |
| 4 | F | 60 | Met/Met | + | + | Y | N | N | N | N | Y | N | Y | Y | 135 | L |
| 5 | F | 70 | Val/Val | − | + | Y | N | N | N | Y | N | N | N | N | 53 | L |
| 6 | F | 60 | Met/Val | − | + | Y | Y | N | N | N | N | N | N | N | 247 | L |
| 7 | F | 79 | NP | + | + | N | N | N | N | N | N | N | N | N | 37 | R |
| 8 | F | 65 | Met/Met | + | + | Y | Y | Y | Y | N | Y | Y | N | Y | 28 | L |
| 9 | F | 75 | Met/Met | + | + | N | N | N | N | Y | N | N | Y | Y | 126 | L |
| 10 | M | 63 | Met/Met | + | + | N | N | N | N | Y | N | N | N | N | 27 | L |
| 11 | M | 79 | NP | + | + | N | Y | Y | Y | Y | Y | N | Y | Y | 18 | R |
| 12 | M | 69 | Val/Val | − | + | Y | N | N | N | Y | N | N | N | N | 105 | R |
| 13 | F | 57 | Val/Val | − | + | Y | Y | Y | Y | N | N | N | Y | N | 126 | L |
| 14 | M | 79 | Met/Met | + | + | N | N | N | N | Y | Y | N | N | Y | 51 | L |
| 15 | F | 70 | Met/Met | + | + | Y | Y | Y | Y | N | Y | Y | N | Y | 41 | L |
CBS, corticobasal syndrome; Met, methionine; Val, valine; NP, not performed; Y, yes; N, no; L, left; R, right; PSWC, periodic sharp wave complexes.