Disease characteristics by mutation type in SOD1 familial ALS
| Mutation* | ||||||
|---|---|---|---|---|---|---|
| Exon | Codon | Substitution | Number of patients (%) | Mean age (year)±SD (n) at onset | Mean duration† (year)±SD (n) | Median duration (year) |
| 1 | 4 | Ala-Val | 63 (36.6) | 49.9±12.3 (57) | 1.4±0.7 (51) | 1.2 |
| 4 | 113 | Ile-Thr | 32 (18.3) | 54.2±10.7 (29) | 5.3±4.8 (22) | 3.3 |
| 2 | 41 | Gly-Asp | 11 (6.4) | 34.2±7.8 (8) | 23.5±14 (4) | 21 |
| 4 | 100 | Glu-Lys | 10 (5.7) | 39.6±5.9 (10) | 8.9±5.2 (8) | 9.1 |
| 4 | 100 | Glu-Gly | 5 (2.9) | 42.6±9.1 (5) | 9±6.2 (4) | 7.2 |
| 4 | 89 | Ala-Val | 4 (2.3) | 56±10.4 (4) | 8+1.6 (2) | 8 |
| 1 | 4 | Ala-Thr | 3 (1.7) | 50±10.1 (3) | 0.8±0.05 (2) | 0.8 |
| 4 | 90 | Asp-Ala | 3 (1.7) | 57.7±9.6 (3) | 9.7±5.4 (2) | 9.7 |
| 4 | 93 | Gly-Ala | 3 (1.7) | 49±12.5 (3) | 2.2±0.6 (2) | 2.2 |
| 5 | 137 | Thr-Ala | 3 (1.7) | 38.3±9.2 (3) | 9.6±7 (3) | 6.4 |
| 1 | 14 | Val-Gly | 3 (1.7) | 50.3±21.0 (3) | 2.6±1 (2) | 2.6 |
| 1 | 6 | Cys-Ser | 2 (1.2) | 54±16.9 (2) | 4.1±0.5 (2) | 4.1 |
| 5 | 133‡ | Glu-Ala | 2 (1.2) | 62±2.8 (2) | 0.9±0.6 (2) | 0.9 |
| 2 | 49 | Glu-Lys | 2 (1.2) | 59±19.8 (2) | 6.8±1.9 (2) | 6.8 |
| 5 | 141 | Gly- --- | 2 (1.2) | 42.5±2.1 (2) | 1.1±0.7 (2) | 1.1 |
| 2 | 37 | Gly-Arg | 2 (1.2) | 26.5±6.4 (2) | 7.8 | |
| 2 | 41 | Gly-Ala | 2 (1.2) | 44.5±10.6 (2) | 17.3±0 (2) | 17.3 |
| 4 | 85 | Gly-Arg | 2 (1.2) | 56.5±9.2 (2) | 2.2±0.3 (2) | 2.2 |
| 5 | 139 | Asn-Lys | 2 (1.2) | 51±2.8 (2) | 1.5±0.7 (2) | 18.5 |
| 5 | 148 | Val-Gly | 2 (1.2) | 49.5±0.7 (2) | 0.7±0.4 (2) | 0.7 |
| 1 | 4‡ | Ala-His | 1 (0.6) | 50 | ||
| 5 | 125‡ | Asp-Ala | 1 (0.6) | 63 | 1.1 | |
| 3 | 76 | Asp-Tyr | 1 (0.6) | 75 | 3.7 | |
| 4 | 108‡ | Gly-Arg | 1 (0.6) | 67 | 1.7 | |
| 1 | 10‡ | Gly-Ala | 1 (0.6) | 59 | 4.8 | |
| 5 | 141 | Gly-Ala | 1 (0.6) | 43 | ||
| 2 | 37 | Gly-Val | 1 (0.6) | 36 | 4.6 | |
| 2 | 41 | Gly-Ser | 1 (0.6) | 67 | 0.4 | |
| 4 | 93 | Gly-Ser | 1 (0.6) | 45 | ||
| 2 | 43 | His-Arg | 1 (0.6) | 56 | 0.3 | |
| 2 | 46 | His-Arg | 1 (0.6) | 47 | 23.4 | |
| 5 | 144 | Leu-Phe | 1 (0.6) | 66 | 6.2 | |
| 5 | 144 | Leu-Ser | 1 (0.6) | 56 | 7.8 | |
| 1 | 14 | Val-Met | 1 (0.6) | 54 | 4.1 | |
| 4 | 87 | Val-Met | 1 (0.6) | 39 | 8.8 | |
| 5 | 134 | Thr-Cys | 1 (0.6) | 55 | ||
| Unknown | 1 (0.6) | |||||
| Total | 175§ (100%) | 162§ | 134§ | |||
*The mutations are ordered by decreasing number of affected patients. Nomenclature corresponds to amino acid sequence excluding ATG start codon.
†Censored data are included in determination of mean or median duration.
‡Mutations that are not listed in the ALSoD Database as of 5/5/15.
§Total number of participants with available data.
ALS, amyotrophic lateral sclerosis.