Table 1

Demographic and clinical characteristics

Sex=female78 (40.6)95 (30.3)
Age at first MRI, years62.4 (53.7–68.4)62.5 (54.7–68.5)
Age at onset, years60.5 (52.6–66.0)
Handedness=right150 (78.1)241 (76.8)
Visit interval, m4.4 (3.6–5.5)14.0 (10.8–17.7)
Site of disease onset
 Bulbar region49 (25.5)
 Arms, right/left/both78 (40.6), 30/29/19
 Legs, right/left/both65 (33.9), 28/26/11
Diagnostic delay, m9.8 (5.8–18.0)
Diagnosis to study interval, m4.0 (2.3–6.2)
Disease duration, m14.4 (10.0–23.4)
C9orf72 repeat length expansion16 (8.8)
FVC at diagnosis, % of predicted101.0 (90.8–111.3)
King’s stage at visit 1, 1/2/3/4/missing71/54/42/0/25
MiToS stage at visit 1, 0/1/2/3/4/missing163/4/1/0/0/24
ECAS total score113 (102–119)114 (106–119)
ECAS, ALS-specific score85 (76–89)85 (78–88)
ECAS, ALS-non-specific score30 (26–32)30 (28–31)
bvFTD at visit 19 (4.7)
ALSFRS-R score at visit 141 (38–44)
Progression rate at visit 10.4 (0.2–0.6)
Progression rate between visits 1 and 20.6 (0.3–1.1)
  • Data are count (%) or median (25th quantile–75th quantile). Progression rate at visit 1 is defined as the decline in total ALSFRS-R-score per month from symptom onset until first visit. Progression rate between visits 1 and 2 is defined as the decline in total ALSFRS-R-score per month between visits. Presence of bvFTD is based on the Rascovsky criteria for behavioural FTD.20 All patients had two follow-up visits; for controls this was not obligatory; 145 controls completed the second visit.

  • ALS, amyotrophic lateral sclerosis; ALSFRS-R, Revised ALS Functional Rating Scale; bvFTD, behavioural frontal temporal dementia; ECAS, Edinburgh Cognitive and Behavioural ALS Screen; FVC, forced vital capacity; King's, King’s clinical staging system; MiToS, stage in Milano-Torino functional staging system.