Table 1.
Baseline Demographic data and physiology
| C9+ participants by diagnostic groupa | ||||||
|---|---|---|---|---|---|---|
| Controls | C9+ participants (all) |
Asymptomatic | bvFTD | ALS only | ALS-FTD | |
| N | 21 | 19 | 3 | 3 | 8 | 5 |
| Age (years) | 52.9 ± 9.3 | 55.4 ± 9.8 | 50.2 ± 10.4 | 57.7 ± 5.1 | 53.3 ± 10.1 | 60.2 ± 11.3 |
| Male:Female | 13:8 | 13:6 | 0:3 | 3:0 | 5:3 | 5:0 |
| Disease Duration (months) | - | 31.2 ± 26b | - | 36.6 ± 26.6 | 27.8 ± 25.6 | 37.5 ± 31 |
| Resting Threshold (% stimulator output) | 49.3 ± 8.3 | 47.8 ± 15.4 | 51.6± 13.5 | 46.5 ± 6.8 | 43.5 ± 16.4 | 47.5 ± 10.2 |
| Silent period duration (ms) | 134 ± 36 | 129.9 ± 42.6 | 177 ± 30 | 138 ± 38 | **102± 29 | 138 ± 36 |
| Central Motor conduction time (ms) | 4.5 ± 1.5 | *6.1 ± 1.5 | 5.8 ± 0.9 | 5.8 ± 0.9 | 6.1 ± 2.0 | 6.6 ± 1.2 |
| MEP/CMAP amplitude | 0.62 ± 0.25 | 0.52 ± 0.32 | 0.48±0.15 | 0.49±0.23 | 0.62±0.43 | 0.35±0.18 |
| ALSFRS-R | - | 43.4 ± 4.5 | 48 | 43 ± 2.9 | 40.5 ± 4.7 | 43.6 ± 3.4 |
| Dementia Rating Scale (scaled score; normal mean=10) | 8.6 ± 4.2 | 15 ± 2.5 | ***3 ± 1.2 | 10.9 ± 2.4 | ***5.4 ± 3.3 | |
a
Revised El Escorial criteria for ALS; Rascovsky criteria for bvFTD;
b
C9+ asymptomatic carriers excluded; MEP, motor evoked potential; CMAP, compound muscle action potential; ALSFRS-R, ALS functional rating scale-revised.
*
Significantly different from control (P < 0.05),
**
significantly different from controls and asymptomatic C9orf72 subjects.
***
> 2 SDs below normative values