Table 1.
Demographic and clinical features of ALS patients and results of instrumental and laboratory investigations.
| Sex | |
| Males | 71 (62.3%) |
| Females | 43 (37.7%) |
| Age at evaluation (years) | 66 (56–72) |
| Age at onset (years) | 65 (54–71) |
| Family history of ALS | |
| fALS | 23 (20.2%) |
| sALS | 91 (79.8%) |
| Site of onset | |
| Bulbar | 27 (23.7%) |
| Spinal | 87 (76.3%) |
| Motor phenotype | |
| Classic | 62 (54.4%) |
| Bulbar | 24 (21.1%) |
| Respiratory | 4 (3.5%) |
| UMN‐p | 9 (7.9%) |
| PLS | 5 (4.4%) |
| Flail arm | 4 (3.5%) |
| Flail leg | 2 (1.8%) |
| PMA | 4 (3.5%) |
| Disease duration at evaluation (months) | 12 (7–20) |
| ALSFRS‐R (N = 101) | 41 (36–44) |
| DPR (N = 101) | 0.611 (0.273–1.032) |
| Penn UMN score | 9 (3–15) |
| LMN score | 5 (3–6) |
| Composite MRC score (N = 106) | 54 (48–58) |
| King's staging system | |
| Stage 1 | 9 (7.9%) |
| Stage 2 | 28 (24.6%) |
| Stage 3 | 74 (64.9%) |
| Stage 4 | 3 (2.6%) |
| Stage 5 | 0 (0%) |
| MiToS system | |
| Stage 0 | 86 (75.4%) |
| Stage 1 | 25 (21.9%) |
| Stage 2 | 3 (2.6%) |
| Stage 3 | 0 (0%) |
| Stage 4 | 0 (0%) |
| Stage 5 | 0 (0%) |
| Eye movement abnormalities | |
| Absent | 107 (93.9%) |
| Present | 7 (6.1%) |
| ECAS scores | |
| Executive | 37 (30–40) |
| Verbal fluency | 18 (14–20) |
| Language | 25 (22–27) |
| Memory | 15 (12–18) |
| Visuospatial | 12 (11–12) |
| ALS‐specific | 79 (66–86) |
| ALS‐nonspecific | 27 (23–30) |
| Total | 105 (91–113) |
| Cognitive‐behavioral classification according to ECAS | |
| ALS | 50 (43.9%) |
| ALSci | 29 (25.4%) |
| ALSbi | 21 (18.4%) |
| ALScbi | 14 (12.3%) |
| MoCA score (N = 92) | 24 (22–26.5) |
| FAB score (N = 99) | 16.3 (15.0–17.9) |
| FBI scores (N = 88) | |
| A | 1 (0–3) |
| B | 0 (0–1) |
| Total | 1 (0–3) |
| BDI scores (N = 101) | |
| Cognitive‐affective | 5 (2–7) |
| Somatic | 8 (5–10) |
| Total | 13 (8–17) |
| STAI scores (N = 104) | |
| Y1 | 52 (46.5–58.5) |
| Y2 | 49.5 (43–58) |
| FVC (pulmonary function testing; N = 35) | 81 (60–100.5) |
| ABG parameters (N = 66) | |
| pa o 2 (mmHg) | 80.5 (69.0–89.0) |
| pa co 2 (mmHg) | 42.0 (38.0–44.0) |
| (mmol/L) | 27.9 (26.2–29.9) |
| Polysomnographic parameters (N = 70) | |
| Average Spo 2 | 93.4% (92.1–94.9%) |
| ODI | 6.1 (1.8–11.2) |
| AHI | 5.4 (1.8–10.6) |
| Serum GFAP (pg/mL) | 117.0 (82.4–172.0) |
| eGFR (mL/min) | 94.3 (82.8–102.7) |
| Serum CK (U/L) | 181.5 (120–259) |
| Patients with gene mutations | |
| C9orf72 | 6 (N = 77) |
| SOD1 | 1 (N = 23) |
| TARDBP | 5 (N = 25) |
| FUS | 0 (N = 23) |
For continuous variables, median and interquartile range are reported, if not otherwise specified. When not all patients were evaluated for a given parameter, the number of evaluated patients is provided. For gene mutations, the number of tested patients (N) is indicated in brackets after the number of patients with mutations in the relative gene.
Abbreviations: ABG, arterial blood gas; AHI, apnea‐hypopnea index; ALS, amyotrophic lateral sclerosis; ALSbi, ALS with behavioral impairment; ALScbi, ALS with cognitive and behavioral impairment; ALSci, ALS with cognitive impairment; ALSFRS‐R, amyotrophic lateral sclerosis functional rating scale, revised; BDI, Beck Depression Inventory; CK; creatine kinase; DPR, disease progression rate; ECAS, Edinburgh Cognitive and Behavioral ALS Screen; eGFR, estimated glomerular filtration rate; FAB, Frontal Assessment Battery; fALS, familial amyotrophic lateral sclerosis; FVC, forced vital capacity; IQR, interquartile range; LMN, lower motor neuron; MiToS, Milano‐Torino Staging; MoCA, Montreal Cognitive Assessment; MRC, Medical Research Council; ODI, oxygen desaturation index; PLS, primary lateral sclerosis; PMA, progressive muscular atrophy; sALS, sporadic amyotrophic lateral sclerosis; Spo 2, peripheral oxygen saturation; STAI, State–Trait Anxiety Inventory; UMN, upper motor neuron; UMN‐p, upper‐motor‐neuron‐predominant.