Table 2.
Individual socio-demographic and clinical features of MND patients.
| Subject | Mutation | Diagnosis | Sex (M/F) | Education (years) | Age at onset | Age at MRI (years) | Time onset to diagnosis (months) | ALSFSR-r [0-48] | MRC sum score | Disease progression rate | Bulb/limb onset | Site onset |
Cognitive/
behavioral profile |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | TARDBP | ALS | M | 8 | 70 | 71 | 7 | 44 | NA | 0.50 | Limb | RUL | NA |
| 2 | TARDBP | ALS | F | 8 | 61 | 63 | 13 | 44 | NA | 0.17 | Limb | RLL | NA |
| 3 | TARDBP | ALS | F | 11 | 50 | 56 | 35 | 36 | 103 | 0.18 | Limb | LL | ALS-ci |
| 4 | TARDBP | PMA | M | 8 | 62 | 62 | 3 | 33 | 79 | 2.50 | limb | UL | PMA-ci |
| 5 | TARDBP | ALS | F | 11 | 48 | 48 | 4 | 20 | 91 | 4.00 | Bulb | – | ALS-ci |
| 6 | TARDBP | PMA | M | 5 | 60 | 61 | 10 | 38 | 91 | 0.83 | Limb | RUL | NA |
| 7 | TARDBP | ALS | M | NA | 62 | 63 | 8 | 20 | NA | 2.80 | Limb | LUL | NA |
| 8 | TARDBP | PLS | F | 13 | 55 | 56 | 9 | 35 | NA | 1.08 | Limb | RLL | Normal |
| 9 | TARDBP | ALS | F | 16 | 67 | 67 | 4 | 40 | 95 | 1.60 | Bulb | – | Normal |
| 10 | TARDBP | PMA | M | NA | 65 | 67 | 11 | 25 | 50 | 1.43 | Limb | RLL | PMA-ci |
| 11 | TARDBP | ALS | M | 13 | 43 | 44 | 18 | 41 | NA | 0.36 | Limb | RUL | NA |
| 12 | – | PMA | M | 16 | 54 | 60 | 11 | 33 | 78 | 0.21 | Limb | RUL | Normal |
| 13 | – | ALS | F | 17 | 65 | 67 | 19 | 40 | 91 | 0.36 | Limb | LL | Normal |
| 14 | – | ALS | F | 13 | 57 | 58 | 8 | 33 | 91 | 1.36 | Limb | NA | NA |
| 15 | – | PMA | M | 13 | 59 | 60 | 6 | 32 | 109 | 2.00 | Limb | LUL | NA |
| 16 | – | ALS | M | 6 | 65 | 66 | 6 | 29 | 111 | 2.11 | Bulb | – | Normal |
| 17 | – | PMA | M | 13 | 41 | 65 | 156 | 25 | 66 | 0.08 | Limb | RLL | NA |
| 18 | – | ALS | F | 17 | 50 | 54 | 12 | 38 | 111 | 0.25 | Bulb | – | Normal |
| 19 | – | ALS | F | 11 | 40 | 45 | 25 | 23 | 60 | 0.38 | Limb | LL | Normal |
| 20 | – | ALS | F | 8 | 58 | 59 | 15 | 42 | 105 | 0.40 | Limb | NA | NA |
| 21 | – | ALS | M | 13 | 67 | 68 | 13 | 41 | 107 | 0.55 | Limb | NA | NA |
| 22 | – | ALS | M | 13 | 45 | 47 | 36 | 37 | 106 | 0.31 | Limb | NA | NA |
ALS, amyotrophic lateral sclerosis; -ci, cognitive impairment; F, female; LL, lower limbs; LUL, center upper limb; M, male; MRC, Medical Research Council scale; NA, not available; PMA, primary muscular atrophy; PLS, primary lateral sclerosis; RLL, right lower limb; RUL, right upper limb; UL, upper limbs. –, not applicable.