Table 1.
Clinical and genetic characteristics of ALS patients
| Sample id | Sex | Age | Age of onset | Survival (month) | ΔFS | Site of onset | S/B | Primary diagnosis | Family hystory of NDG disease (yes/no) | NDG | SOD1 | TDP-43 | FUS | C9orf72 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALS895 | M | 60 | 54 | 51 | 0.6 | Upper limbs | S | ALS | no | - | N | N | N | N |
| ALS896 | F | 61 | 56 | censored | Lower limbs | S | ALS | no | - | N | N | N | N | |
| ALS950 | M | 73 | 65 | 58 | 0.29 | Bulbar region | B | ALS-B | yes | Dementia (mother) | N | N | N | N |
| ALS951 | M | 64 | 58 | censored | 0.78 | Bulbar FTD | B | ALS-FTD | no | - | N | N | N | N |
| ALS952 | F | 73 | 75 | censored | 0.31 | Upper Limbs | S | ALS | no | - | N | N | N | N |
| ALS957 | F | 67 | 63 | censored | 1.2 | Upper Limbs | S | ALS | no | - | N | N | N | N |
| ALS977 | F | 71 | 65 | censored | 1 | Cervical spinal cord | S | ALS -S | no | - | N | N | N | N |
| ALS978 | F | 41 | 36 | censored | 0.88 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N |
| ALS979 | M | 72 | 67 | 28 | 0.33 | Bulbar region | B | ALS -B | no | - | N | N | N | N |
| ALS1010 | F | 63 | 56 | 60 | 0.53 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N |
| ALS1013 | F | 82 | 63 | censored | 0.15 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N |
| ALS1112 | M | 67 | 62 | censored | 0.53 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N |
| ALS1113 | M | 58 | 55 | censored | 0.5 | Cervical spinal cord | S | ALS -S | no | - | N | N | N | N |
| ALS1114 | M | 66 | 59 | 57 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N | |
| ALS1115 | M | 62 | 58 | 38 | 0.4 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N |
| ALS1061 | M | 79 | 76 | 17 | 0.43 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N |
| ALS1062 | M | 79 | 74 | 17 | 1.33 | Lumbo-sacral region | S | SLA-S | no | - | N | N | N | N |
| ALS1063 | M | 62 | 54 | censored | 0.05 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N |
| ALS1064 | F | 68 | 60 | 71 | 0.15 | Lumbo-sacral region | S | ALS | yes | Undiagnosed ALS (paternal uncle) | N | N | N | N |
| ALS1065 | F | 94 | 89 | 25 | 0.65 | Bulbar region | B | ALS -B | no | - | N | N | N | N |
| ALS1067 | M | 55 | 53 | censored | 0.5 | Cervical spinal cord | S | ALS -S | no | - | N | N | N | N |
| ALS1068 | M | 69 | 21 | censored | Cervical spinal cord | S | ALS-S slow evolution | no | - | N | N | N | N | |
| ALS1073 | F | 68 | 64 | 34 | 1.93 | Thoracic region | S | ALS -S | yes | Dementia | N | N | N | N |
| ALS1075 | F | 54 | 50 | censored | 3 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N |
| ALS1078 | M | 56 | 53 | 76 | 0.2 | Cervical spinal cord | S | ALS -S | no | - | N | N | N | N |
| ALS1117 | F | 81 | 61 | 28 | 1.5 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N |
| ALS1118 | F | 76 | 72 | 12 | 1.1 | Lumbo-sacral region | S | ALS -S | no | - | N | N | N | N |
| ALS1119 | M | 82 | 79 | 12 | 2.6 | Cervical spinal cord | S | ALS -S | yes | Alzheimer (2 brothers) Dementia (1 sister) | N | N | N | N |
| ALS1142 | M | 78 | 75 | 27 | 1.64 | Lumbo-sacral region | S | ALS-S | yes | Dementia (mother and many uncles) | N | N | N | N |
| ALS949 | M | 93 | 88 | 73 | 0.2 | Upper Limbs | S | ALS | no | - | N | N | N | N |
| ALS953 | F | 75 | 72 | 38 | 0.58 | Lower limbs | S | ALS | no | - | N | N | N | N |
| ALS1017 | M | 59 | 65 | 31 | 0.88 | Cervical spinal cord | S | ALS-S | yes | Alzheimer (father) | N | N | N | exp |
S Spinal, B Bulbar, N normal, M Male, F Female, exp. The molecular profile was performed by ABI Prism 3130XL genetic analyzer