Table 1.
Features of 22 reported postmortem FXTAS cases
| Duration from onset (years) | CCG repeats | MCP sign | Additional neuropathological findings | ||
|---|---|---|---|---|---|
| Wheelchair | Death | ||||
| Greco et al3; 11 males6 | 6 | 10 | 113 | – | – |
| – | 13 | 80 | – | – | |
| NA | 5 | 80 | Y | – | |
| 13 | 14 | 71 | – | PD | |
| 12 | 19 | 105 | – | – | |
| 7 | 13 | 77 | Y | – | |
| 5 | 6 | 88 | Y | – | |
| NA | 3 | 92 | – | – | |
| 13 | 16 | 88 | Y | – | |
| 4 | 6 | 93 | Y | – | |
| NA | 1 | 65 | – | – | |
| Tassone et al2; 8 females | NA | NA | 70 | – | – |
| – | 10 | 80 | N | AD (B&B V-VI) | |
| – | 6 | 87 | – | – | |
| – | 14 | 75 | Y | MS | |
| – | 7 | 65 | – | AD (B&B V-VI) | |
| 4 | 7 | – | N | AD (B&B V-VI) | |
| 4 | 6 | 59 | N | PD | |
| – | 8 | 78 | – | AD (B&B V-VI) | |
| Louis et al; 1 male7 | 7 | 9 | 90 | – | – |
| Present series: De Pablo-Fernandez et al; 2 males | 13 | 14 | 72 | Y | PD (Braak 5) |
| 7 | 8 | 100 | N | PD (Braak 3) | |
| Total: 8 females; 14 males | 8 | 9 | Y 64% (7/11) | ||
AD, Alzheimer disease; B&B, Braak and Braak stage for Alzheimer; Braak, Braak stage for Parkinson's disease; FXTAS, fragile X-associated tremor/ataxia syndrome; MCP, middle cerebellar peduncle; MS, multiple sclerosis; N, no; NA, not applicable; PD, Parkinson's disease; Y, yes.