Table 1

Descriptive data of the studied population

ControlsPatientsPS
Overall C9orf72 GRN Overall C9orf72 GRN
N1651025448854837
Gender (F/M)96/6946/5624/3022/2652/3330/1822/15
Disease phenotype
 FTD (N)7527*48
 ALS (N)66†
 FTD/ALS (N)1010‡
 Psychiatric (N)1111§
Age at disease onset (years)58.0 (53.0–64.8)58.0 (50.3–67.0)58.0 (54.8–63.0)
Age at baseline sampling (years)56.5 (45.9–66.3)62.9 (58.3–69.6)64.4 (58.0–71.5)62.1 (58.5–66.2)41.2 (34.2–47.5)42.0 (34.4–47.4)40.9 (33.2–48.8)
Age at baseline, range (years)21.1–83.535.5–79.939.8–79.935.5–76.220.4–79.424.0–79.420.4–68.8
Disease duration at sampling (years)3.5 (2.3–5.9)5.1 (2.9–9.0)¶2.9 (2.2–3.5)¶
pNfL at baseline (pg/mL)9.88 (7.42–14.36)**66.25 (33.74–98.86)**39.49 (23.89–74.42)††86.21 (58.17–118.13)††8.08 (6.08–10.10)**8.48 (6.71–11.52)7.70 (5.59–9.23)
Mean (±SD) pNfL at baseline12.08 (±7.57)**81.21 (±75.99)**64.52 (±63.92)††99.99 (±84.40)††8.79 (±4.02)**9.76 (±4.69)‡‡7.52 (±2.44)‡‡
Individuals with follow-up (N)65442915664323
Mean (±SD) follow-up duration (years)2.96 (±1.16)2.00 (±1.21)1.95 (±1.26)2.08 (±1.13)2.99 (±1.30)2.83 (±0.65)3.29 (±2.01)
Mean ARC (%)+3.9**+26.7**+24.7††+29.3††+3.2**+3.2+3.3
  • Values are indicated as median and IQR, except where differently specified. There were no statistically significant differences between the groups, apart from specific occurrences, as follows.

  • *3/27 patients with FTD had SP course.

  • †2/6 patients with ALS had SP course.

  • ‡3/10 patients with FTD/ALS had SP course.

  • §4/11 patients with psychiatric presentations had SP course.

  • ¶Different disease duration at baseline between C9orf72 and GRN patients (p=0.0001).

  • **Higher values in patients compared with controls (p<0.0001) and PS (p<0.0001).

  • ††Higher values in GRN patients compared with C9orf72 patients (p<0.05).

  • ‡‡Higher values in C9orf72 PS compared with GRN PS (p<0.01).

  • ALS, amyotrophic lateral sclerosis; ARC, annualised rate of change; F, female; FTD, frontotemporal dementia; M, male; pNfL, plasma neurofilament light chain; PS, presymptomatic carriers; SP, slowly progressive.