Table 1.
Demographic and clinical features of ALS patients and results of instrumental and laboratory investigations.
| Sex | |
|---|---|
| Males | 123 (58.9%) |
| Females | 86 (41.1%) |
| Age at evaluation (years) | 67 (56–73) |
| Age at onset (years) | 65 (54–72) |
| Family history of ALS | |
| fALS | 28 (13.4%) |
| sALS | 181 (86.6%) |
| Site of onset | |
| Bulbar | 49 (23.4%) |
| Spinal | 160 (76.6%) |
| Motor phenotype | |
| Classic | 96 (45.9%) |
| Bulbar | 43 (20.6%) |
| Respiratory | 8 (3.8%) |
| UMNp | 26 (12.4%) |
| PLS | 15 (7.2%) |
| Flail arm | 6 (2.9%) |
| Flail leg | 9 (4.3%) |
| PMA | 6 (2.9%) |
| Disease duration at evaluation (months) | 12 (8–22) |
| ALSFRS-R (N = 161) | 41 (36–43) |
| DPR (N = 161) | 0.621 (0.293–0.995) |
| PUMNS | 9 (3–16) |
| LMN score | 4 (2–6) |
| Composite MRC score (N = 184) | 54 (48–59) |
| King’s staging system | |
| Stage 1 | 23 (11.0%) |
| Stage 2 | 52 (24.9%) |
| Stage 3 | 128 (61.2%) |
| Stage 4 | 6 (2.9%) |
| Oculomotor abnormalities | |
| Absent | 185 (88.5%) |
| Present | 24 (11.5%) |
| Neurophysiological parameters | |
| Index of active spinal denervation (N = 112) | 3.5 (2.0–5.0) |
| Index of chronic spinal denervation (N = 112) | 5.5 (3.5–7.0) |
| CMCT for right UL (msec; N = 154) | 6.6 (5.5–7.9) |
| CMCT for left UL (msec; N = 155) | 6.4 (5.6–7.6) |
| CMCT for right LL (msec; N = 123) | 16.6 (14.9–18.8) |
| CMCT for left LL (msec; N = 127) | 16.6 (15.2–18.5) |
| CSP for right UL (msec; N = 145) | 86.0 (53.0–147.0) |
| CSP for left UL (msec; N = 145) | 102.0 (58.5–167.0) |
| ECAS scores (N = 139) | |
| Executive | 37 (29–40) |
| Verbal fluency | 18 (14–20) |
| Language | 25 (22–27) |
| Memory | 15 (12–18) |
| Visuospatial | 12 (11–12) |
| ALS-specific | 78 (66–85) |
| ALS-nonspecific | 27 (23–30) |
| Total | 105 (90–113) |
| Cognitive-behavioral classification according to | |
| ECAS (N = 139) | |
| ALS | 63 (45.3%) |
| ALSci | 37 (26.6%) |
| ALSbi | 22 (15.8%) |
| ALScbi | 17 (12.2%) |
| MoCA score (N = 108) | 24 (22–26) |
| FAB score (N = 117) | 16.2 (14.9–17.8) |
| FBI scores (N = 104) | |
| A | 1 (0–3) |
| B | 0 (0–1) |
| Total | 1 (0–4) |
| BDI scores (N = 121) | |
| Cognitive-affective | 5 (2–7) |
| Somatic | 7 (4–10) |
| Total | 12 (7–16) |
| STAI-Y scores (N = 124) | |
| Y1 | 51 (46–58) |
| Y2 | 48 (42–57) |
| FVC (pulmonary function testing; N = 62) | 86 (63–101) |
| ABG parameters (N = 114) | |
| PaO2 (mmHg) | 77 (69–86) |
| PaCO2 (mmHg) | 41 (39–44) |
| HCO3- (mmol/L) | 28.5 (26.6–29.9) |
| Polysomnographic parameters (N = 133) | |
| Average SpO2 | 93.6% (92.4–95.4%) |
| ODI | 5.5 (1.9–10.6) |
| AHI | 5.1 (2.0–10.6) |
| sNFL (pg/mL) | 83.6 (50.1–132.6) |
| eGFR (mL/min; N = 206) | 93.0 (81.7–101.9) |
| Serum CK (U/L; N = 206) | 159 (100–269) |
| Patients with gene mutations | |
| C9orf72 | 8 (N = 197) |
| SOD1 | 3 (N = 62) |
| TARDBP | 7 (N = 62) |
| FUS | 0 (N = 61) |
For continuous variables, median and interquartile range are reported. 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. 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; CMCT, central motor conduction time; CSP, cortical silent period; DPR, disease progression rate; ECAS, Edinburgh Cognitive and Behavioural ALS Screen; eGFR, estimated glomerular filtration rate; FAB, Frontal Assessment Battery; fALS, familial amyotrophic lateral sclerosis; FVC, forced vital capacity; LL, lower limb; LMN, lower motor neuron; MoCA, Montreal Cognitive Assessment; MRC, Medical Research Council; ODI, oxygen desaturation index; PaCO2, partial arterial pressure of carbon dioxide; PaO2, partial arterial pressure of oxygen; PLS, primary lateral sclerosis; PMA, progressive muscular atrophy; PUMNS, Penn Upper Motor Neuron Score; sALS, sporadic amyotrophic lateral sclerosis; sNFL, serum neurofilament light chain; SpO2, peripheral oxygen saturation; STAI-Y, State–Trait Anxiety Inventory; UMNp, upper-motor-neuron-predominant; U, units; UL, upper limb.