Table 1.
Clinical characteristics of C9orf72 expansion carriers. N/A- not available. Educational level denoted Bachelor’s degree (B), Master’s degree (M.S.), Doctorate (Ph.D.), High School (HS), or General Educational Development Test (GED). ALSFRS-R: revised amyotrophic lateral sclerosis functional rating scale. MMSE: mini-mental state examination. ALS-CBS: amyotrophic lateral sclerosis cognitive behavioral score. TMA: Trailmaking A, TMB: Trailmaking B, LNS: Letter-Number-Sequence, sec: seconds. CSF biomarkers include Aβ, total-tau (t-tau), and phosphorylated tau (p-tau).
| Participant | Age | Gender | Site of Onset |
Disease Duration (years) |
ALSFRS-R (/48) |
MMSE (/30) |
ALS-CBS (/21) |
Ed |
|---|---|---|---|---|---|---|---|---|
| 1 | 64 | Female | Spinal | 1.57 | 13 | N/A | N/A | B |
| 2 | 60 | Male | N/A | N/A | N/A | 30 | N/A | M.S. |
| 3 | 60 | Male | Bulbar | 1.21 | 37 | 30 | 17 | B |
| 4 | 65 | Female | Bulbar | 3.67 | 22 | 27 | 10 | N/A |
| 5 | 64 | Male | Spinal | 4.19 | 21 | 23 | 16 | M.S. |
| 6 | 69 | Male | Spinal | 2.67 | 25 | 24 | 8 | Ph.D. |
| 7 | 57 | Female | N/A | N/A | N/A | 25 | N/A | GED |
| 8 | 68 | Female | Bulbar | 2.25 | 39 | 30 | 20 | HS |
| 9 | 60 | Male | Spinal | 1.94 | 36 | 30 | N/A | HS |
| Avg | 63.0 ± 4.0 | 56% Male | N/A | 2.50 ± 1.09 | 28 ± 9.8 | 27.4 ± 3.0 | 14.2 ± 5.0 | |
| Control cohort demographics (n= 18) | ||||||||
| 63.5 ± 5.3 | 50% Male | N/A | N/A | N/A | 29.9 ± 0.4 | N/A | N/A | |