Table 3.
Demographic and clinical features of genotyped patients.
| Genotype | No Mutations, N (%) | C9ORF72, N (%) | SOD1, N (%) | FUS, N (%) | Other Genes, N (%) | p-Value |
|---|---|---|---|---|---|---|
| Sex, men | 305 (58.32) | 17 (43.59) | 11(61.11) | 5 (71.43) | 9 (75.00) | 0.374 |
| FTD | 45 (8.60) | 14 (35.90) | 0 (0.00) | 1(14.29) | 2 (16.67) | <0.001 * |
| Family history of ALS/FTD | 79 (15.11) | 28 (71.79) | 8 (44.44) | 4 (57.14) | 5 (41.67) | <0.001 ** |
| Site of onset | 0.097 | |||||
| Bulbar | 169 (32.31) | 12 (30.77) | 3 (16.67) | 2 (28.57) | 1 (8.33) | 0.285 |
| Spinal UL | 167 (31.93) | 11 (28.21) | 4 (22.22) | 4 (57.14) | 7 (58.33) | 0.143 |
| Spinal LL | 161 (30.78) | 14 (35.90) | 10 (55.56) | 1 (14.29) | 2 (16.67) | 0.112 |
| Respiratory | 13 (2.49) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 2 (16.67) | 0.021 |
| Phenotypes | 0.229 | |||||
| Bulbar | 170 (32.50) | 12 (30.77) | 3 (16.67) | 2 (28.57) | 1 (8.33) | 0.276 |
| Classic | 232 (44.36) | 21 (53.85) | 9 (50.00) | 4 (57.14) | 10 (83.33) | 0.068 |
| Flail arm | 25 (4.79) | 3 (7.69) | 0 (0.00) | 1 (14.29) | 0 (0.00) | 0.467 |
| Flail leg | 37 (7.07) | 1 (2.56) | 4 (22.22) | 0 (0.00) | 0 (0.00) | 0.061 |
| UMNp | 31 (5.93) | 0 (0.00) | 1 (5.56) | 0 (0.00) | 0 (0.00) | 0.459 |
| Respiratory | 14 (2.68) | 2 (5.13) | 1 (5.56) | 0 (0.00) | 0 (0.00) | 0.767 |
| Total | 523 (87.31) | 39 (6.51) | 18 (3.01) | 7 (1.17) | 12 (2.00) |
Table 3 shows differential distribution of main clinical features among genotypes tested with the chi-square test. Spinal UL: spinal upper limb; Spinal LL: spinal lower limb; UMN-p: Upper Motor Neuron predominant; FTD: frontotemporal dementia; SD: standard deviation. * single comparisons showed a different frequency of FTD between patients without gene mutation and patients carrying C9ORF72 expansion (p < 0.001), and between patients carrying SOD1 mutations and C9ORF72 expanded patients (p = 0.003). ** single comparisons showed a different frequency of family history between patients without gene mutation and patients carrying C9ORF72 expansion (p < 0.001), between patients without gene mutation and patients carrying SOD1 mutations (p = 0.001), between patients without gene mutation and patients carrying FUS mutations (p = 0.002) and between patients without gene mutation and patients carrying mutations in other genes (p = 0.012); furthermore a different family history frequency was detected between SOD1 and C9ORF72 patients (p = 0.047).