Table 2.
Relationship between pathogenic C9orf72 expansion and phenotype, site onset, family history, therapy, and others comorbidities in patients with amyotrophic lateral sclerosis.
| ALS-C9Pos | ALSwoGM | p | OR | 95%CI | |
|---|---|---|---|---|---|
| n (%) | n (%) | ||||
| Classic phenotype | |||||
| Yes | 53 (63%) | 633 (51%) | 0.132 | 1.42 | [0.89, 2.26] |
| No | 31 (37%) | 607 (49%) | |||
| Bulbar phenotype | |||||
| Yes | 16 (19%) | 224 (18%) | 0.434 | 1.25 | [0.71, 2.24] |
| No | 68 (81%) | 1016 (82%) | |||
| Flail arm phenotype | |||||
| Yes | 1 (1%) | 79 (6%) | 0.102 | 0.19 | [0.02, 1.39] |
| No | 83 (99%) | 1161 (94%) | |||
| Flail leg phenotype | |||||
| Yes | 1 (1%) | 76 (6%) | 0.113 | 0.20 | [0.02, 1.46] |
| No | 83 (99%) | 1164 (94%) | |||
| Umn phenotype | |||||
| Yes | 5 (6%) | 108 (9%) | 0.375 | 0.65 | [0.25, 1.66] |
| No | 79 (94%) | 1132 (91%) | |||
| Spinal onset | |||||
| Yes | 51 (61%) | 881 (71%) | 0.009 | 0.53 | [0.33, 0.85] |
| No | 33 (39%) | 358 (29%) | |||
| Bulbar onset | |||||
| Yes | 32 (38%) | 346 (28%) | 0.012 | 1.83 | [1.14, 2.93] |
| No | 52 (62%) | 893 (72%) | |||
| NIV | |||||
| Yes | 26 (31%) | 580 (47%) | 0.015 | 0.55 | [0.33, 0.89] |
| No | 58 (69%) | 660 (53%) | |||
| PEG | |||||
| Yes | 31 (37%) | 415 (34%) | 0.377 | 1.23 | [0.77, 1.98] |
| No | 53 (63%) | 825 (66%) | |||
| Tracheostomy | |||||
| Yes | 17 (20%) | 203 (16%) | 0.386 | 1.28 | [0.73, 2.24] |
| No | 67 (80%) | 1037 (84%) | |||
| Riluzole | |||||
| Yes | 74 (88%) | 1043 (84%) | 0.591 | 1.20 | [0.61, 2.4] |
| No | 10 (12%) | 197 (16%) | |||
| FTD | |||||
| Yes | 22 (26%) | 93 (7%) | <0.001 | 5.41 | [3.10, 9.45] |
| No | 62 (74%) | 1147 (93%) | |||
| Diabetes | |||||
| Yes | 3 (4%) | 116 (9%) | 0.143 | 0.41 | [0.13, 1.34] |
| No | 81 (96%) | 1124 (91%) | |||
| Hypertension | |||||
| Yes | 19 (23%) | 561 (45%) | 0.004 | 0.45 | [0.26, 0.78] |
| No | 65 (77%) | 679 (55%) | |||
| Heart Diseases | |||||
| Yes | 5 (6%) | 203 (16%) | 0.080 | 0.43 | [0.17, 1.10] |
| No | 79 (94%) | 1037 (84%) | |||
| Cancer | |||||
| Yes | 4 (5%) | 141 (11%) | 0.119 | 0.44 | [0.15, 1.23] |
| No | 80 (95%) | 1099 (89%) | |||
| Autoimmune diseases | |||||
| Yes | 6 (7%) | 90 (7%) | 0.979 | 0.99 | [0.41, 2.35] |
| No | 78 (93%) | 1150 (93%) | |||
| Hematological diseases | |||||
| Yes | 1 (1%) | 48 (4%) | 0.332 | 0.37 | [0.05, 2.74] |
| No | 83 (99%) | 1192 (96%) | |||
| Gastroenteric diseases | |||||
| Yes | 7 (8%) | 197 (16%) | 0.070 | 0.48 | [0.21, 1.06] |
| No | 77 (92%) | 1043 (84%) | |||
| Psychiatric diseases | |||||
| Yes | 4 (5%) | 143 (12%) | 0.043 | 0.35 | [0.12, 0.96] |
| No | 80 (95%) | 1097 (88%) | |||
| Family history of ALS | |||||
| Yes | 38 (45%) | 51 (4%) | <0.001 | 17.26 | [10.25, 29.05] |
| No | 46 (55%) | 1189 (96%) | |||
| Family history of PD | |||||
| Yes | 3 (4%) | 49 (4%) | 0.640 | 0.75 | [0.23, 2.49] |
| No | 81 (96%) | 1191 (96%) | |||
| Family history of FTD | |||||
| Yes | 15 (18%) | 14 (1%) | <0.001 | 16.23 | [7.39, 35.62] |
| No | 69 (82%) | 1226 (99%) | |||
| Family history of AD | |||||
| Yes | 18 (21%) | 100 (8%) | 0.001 | 2.70 | [1.52, 4.79] |
| No | 66 (79%) | 1140 (92%) | |||
ALS, amyotrophic lateral sclerosis; ALS-C9Pos, amyotrophic lateral sclerosis with pathogenic C9orf72 expansion; ALSwoGM, amyotrophic lateral sclerosis without genetic mutations; adjOR, adjusted odds ratio; AD, Alzheimer's disease; FTD, frontotemporal dementia; NIV, non-invasive ventilation; PD, Parkinson's disease; PEG, percutaneous endoscopic gastrostomy; significant associations are signed in bold.