Table 2.
Clinical characteristics of ALS patients (n = 52) with SOD1 cds mutations.
| Mutation | No. of fALS families (cases)/sALS cases with identified mutations | Age at onset ± SD, range, (years) | M:F | Diagnosis delay (months) | Site of onset | Clinical phenotype | Bulbar involvement during disease course (months since onset ± SD, range, %) | Wheelchair-bound (months since onset ± SD, range, %) | IV-free survival (months since onset ± SD, range) |
|---|---|---|---|---|---|---|---|---|---|
| K3E | 3 fALS (n = 14), 4 sALS | 53.3 ± 8.1, 36–68 (n = 16) | 61% M, 39% F | 9.2 ± 3.2, 6–26 (n = 8) | 94% LL, 6% UL (n = 16) | 80% classic ALS, 20% PMA (n = 10) | 32.8 ± 25.8, 5–96 (n = 9), 78.6% yes | 33.4 ± 18.9, 12–96 (n = 12), 100% yes | 90.3 ± 68.9, 18–180 (n = 16) |
| A4V | 1 sALS | 56 | F | 10 | LL | Classic ALS | 12 | 13 | 18 |
| W32* | 1 sALS | 41 | M | 8 | LL | Classic ALS | 35 | 24 | 56 |
| G37R | 1 sALS | 40 | F | 4 | UL | Classic ALS | 8 | 14 | > 48 months |
| G41S | 1 fALS (n = 5) | 50.2 ± 11.6, 40–69 (n = 5) | 40% M 60% F | 7.0 ± 1.0, 6–8 (n = 3) | 60% LL, 40% UL (n = 5) | 75% classic ALS, 25% PMA (n = 4) | 13.0 ± 8.5, 7–19 (n = 2) | NA | 15.0 ± 3.6, 11–20 (n = 5) |
| G72S | 1 sALS | 52 | M | 20 | LL | PMA | NA | 38 | > 38 |
| N86S | 2 sALS | 45 ± 33.9, 21–70 (n = 2) | 1:1 | 15.5 ± 7.8, 10–21 (n = 2) | 50% UL, 50% LL | 100% PMA | 50% | NA | Mean 65.5 ± 41.1, 35–96, (n = 2) |
| D90A | 2 sALS heterozygote | 57.1 ± 12.7, 40–75 (n = 2) | 100% F | 8 (n = 1) | 50% LL, 50% bulbar, (n = 2) | 100% classic ALS | 48 ± 67.9, 0–96 (n = 2) | NA | 60.5 ± 50.2, 25–96 (n = 2) |
| 2 sALS homozygote | 47 (n = 1) | 100% F | 19 (n = 1) | 100% LL (n = 1) | 100% classic ALS (LMN > UMN) | 48 (n = 1) | NA | > 132 (n = 1) | |
| G93C | 1 sALS | 32 | F | 72 | LL | PMA | 96 | 96 | > 96 |
| S105L | 1 sALS | 42 | M | 12 | LL | PMA | 10 | Yes | 36 |
| D109Y | 1 sALS | 59 | M | 33 | LL | ALS-MSA-P | No | No | > 52 |
| C111Y | 1 sALS | 43 | M | 8 | UL | Classic ALS | NA | NA | NA |
| L126* | 1 fALS (n = 4) | 49.7 ± 14.3, 34–62 (n = 3) | 75% F, 25% M | 19.0 ± 14.8, 9–36 (n = 3) | 100% LL | 75% PMA, 25% classic ALS | 50% | 26 (n = 1) | 132.0 ± 135.8, 36–228 (n = 2) |
| N139D | 2 fALS (n = 4) | 57.0 ± 7.0, 49–67 (n = 2) | 100% F | 9 (n = 1) | 100% LL (n = 3) | 100% PMA (n = 3) | 33% (n = 3) | 12 (n = 1) | 99 ± 43.6, 24–144 (n = 3) |
| L144S | 5 fALS families (n = 17), 2 sALS | 45.8 ± 9.8, 29–63 (n = 14) | 84% F, 16%M | 23.9 ± 14.7, 2–45, (n = 7) | 100% LL, n = 9 | 50% classic ALS, 50% PMA (n = 8) | 67.5 ± 6.3, 63–72 (n = 2/14, 14%) | 87.2.2 ± 50.3, 36–156 (n = 6) | 125.0. ± 68.4, 36–219 (n = 14) |