TABLE 1.
Characteristics of amyotrophic lateral sclerosis patients and controls.
| Variable | Patients (n = 110), n (%), mean [SD] | Controls (n = 10), n (%), mean [SD] | P‐value |
|---|---|---|---|
| Sex, males | 68 (61.82) | 4 (40) | 0.17 |
| Age at sampling, years | 57.25 [11.25] | 46.38 [20.24] | 0.01 |
| Tobacco use, never/ex/actual | 73 (66.36)/19 (17.27)/18 (16.36) | 5 (50.00)/3 (30.00)/2 (20.00) | 0.53 |
| Age at onset, years | 56.1 [11.79] | NA | NA |
| Diagnostic delay, months | 9.89 [9.06] | NA | NA |
| Mutational status a , c9/other/WT | 10 (11.90)/5 (5.95)/69 (82.14) | NA | NA |
|
Site of onset Bulbar/spinal |
29 (26.36)/81 (73.64) | NA | NA |
| ALSFRS‐R total score at sampling, points | 39.99 [6.77] | NA | NA |
| Time to generalization, months | 15.61 [17.50] | NA | NA |
| DPRSA, points/month | 0.95 [1.05] | NA | NA |
| BMI at sampling, kg/m2 | 24.70 [4.26] | NA | NA |
| FVC at sampling, % | 91.32 [22.59] | NA | NA |
|
FTD ALS‐ci/ALS‐bi |
12 (10.91) | NA | NA |
| 14 (12.73)/17 (15.45) | |||
| Time to NIV b , months | 27.96 [19.49] | NA | NA |
| Time to PEG c , months | 33.05 [29.08] | NA | NA |
| Time to IV/death d , months | 46.51 [40.23] | NA | NA |
| DPRLO, points/month | 1.09 [0.90] | NA | NA |
| DPRLO‐SA, points/month | 1.55 [2.48] | NA | NA |
Note: Means with standard deviations [SD] are reported or absolute numbers with percentages (%), according to distribution. See Methods section for calculation of clinical variables. P values inferior to 0.05 were presented in bold character to denote statistical significance.
Abbreviations: ALSFRS‐R, Amyotrophic Lateral Sclerosis Functional Rating Scale‐Revised; B, bulbar; bi‐ALS, ALS with behavioral involvement; BMI, body mass index; ci‐ALS, ALS with cognitive involvement; DPRLO, disease progression rate at last observation; DPRLO‐SA, monthly decline in ALSFRS‐R calculated between baseline visit and last observation; DPRSA, disease progression rate at sampling; FTD, frontotemporal dementia; FVC, forced vital capacity; IV, invasive ventilation; LL, lower limbs; NA, not available; NIV, non‐invasive ventilation; PEG, percutaneous endoscopic gastrotomy; R, respiratory; SD, standard deviation; UL, upper limbs; WT, wild‐type.
Genetic analysis available for 84 patients.
56 patients.
46 patients.
81 patients.