Table 1. Patient characteristics
CharacteristicND‐CON (n = 20)NonC9‐F1 (n = 8)AD (n = 24)PD (n = 14)sALS (n = 18)sFTD (n = 11)C9‐F1 (n = 10)c9ALS (n = 9)c9FTD (n = 11)
Age (years)a63.5 (52.8 to 70.0)42.3 (34.6 to 48.0)b67.5 (56.6 to 70.2)72.5 (67.0 to 77.0)60.0 (52.0 to 67.5)64.0 (53.0 to 68.0)44.8 (39.4 to 51.2)b65.1 (54.4 to 71.1)56.3 (44.9 to 61.1)
Gender (F/M)11/93/514/105/96/124/78/23/64/7
ALSFRS‐Ran.a.n.a.n.a.n.a.41.0 (32.0 to 44.0)n.a.n.a.39.0 (36.3 to 44.0)n.a.
FTLD‐CDRan.a.n.a.n.a.n.a.n.a.4.5 (1.0 to 5.5)n.a.n.a.7.0 (3.8 to 11.8)
Disease duration at LP (months)an.a.n.a.n.a.n.a.14.5 (8.8 to 26.0)21.0 (15.0 to 39.0)n.a.11.3 (4.8 to 29.9)56.0 (23.4 to 163)c
Poly‐GP in CSF (arbitrary units)a4.0 (−1.3 to 24.9)−1.8 (−5.5 to 7.0)6.0 (3.6 to 16.3)d−10.5 (−18.9 to −3.6)−1.3 (−9.6 to 5.3)−13.5 (−6.0 to 7.0)129 (68.0 to 393)e113 (80.0 to 279)f151 (51.5 to 333)e
NfL in CSF (pg/ml)a909 (759 to 2,297)720 (581 to 1,093)2,232 (1,768 to 2,655)2,911 (2,185 to 5,907)g6,319 (3,000 to 27,013)h4,455 (2,515 to 8,397)i716 (620 to 1,043)13,644 (9,313 to 29,818)j2,614 (1,903 to 3,771)
pNfH in CSF (pg/ml)a264 (188 to 474)188 (188 to 188)353 (254 to 495)k499 (343 to 675)l1,593 (790 to 5,325)m309 (241 to 768)188 (188 to 188)3,740 (2,028 to 5,487)n303 (246 to 485)
  • AD, Alzheimer's disease; ALS, amyotrophic lateral sclerosis; ALSFRS‐R, ALS Functional Rating Scale—revised; bvFTD, behavioral variant of frontotemporal dementia; C9‐F1, asymptomatic C9orf72 mutation carriers; c9ALS, symptomatic ALS C9orf72 mutation carriers; c9FTD, symptomatic bvFTD C9orf72 mutation carriers; CSF, cerebrospinal fluid; F, female; FTLD‐CDR, Frontotemporal Lobar Degeneration‐specific Clinical Dementia Rating; LP, lumbar puncture; M, male; n.a., not available; ND‐CON, age‐matched control population without signs of a neurodegenerative disease; NfL, neurofilament light chain; NonC9‐F1, C9orf72‐negative offspring of a C9orf72 mutation carrier; PD, Parkinson's disease; pNfH, phosphorylated neurofilament heavy chain; sALS, sporadic ALS; sFTD, sporadic bvFTD.

  • a Values are median and interquartile range.

  • b P < 0.05 vs. ND‐CON, P < 0.01 vs. AD, P < 0.001 vs. PD.

  • c P < 0.05 vs. sFTD.

  • d P < 0.01 vs. PD.

  • e P < 0.05 vs. ND‐CON, NonC9‐F1, P < 0.001 vs. sFTD, PD, sALS.

  • f P < 0.05 vs. ND‐CON, NonC9‐F1, P < 0.001 vs. sALS, sFTD, PD.

  • g P < 0.05 vs. NonC9‐F1, P < 0.01 vs. C9‐F1.

  • h P < 0.01 vs. ND‐CON, P < 0.001 vs. NonC9‐F1, C9‐F1.

  • i P < 0.001 vs. C9‐F1, NonC9‐F1.

  • j P < 0.01 vs. AD, P < 0.001 vs. ND‐CON, NonC9‐F1, C9‐F1.

  • k P < 0.05 vs. C9‐F1.

  • l P < 0.05 vs. NonC9‐F1, P < 0.01 vs. C9‐F1.

  • m P < 0.01 vs. ND‐CON, P < 0.001 vs. NonC9‐F1, C9‐F1.

  • n P < 0.05 vs. ND‐CON, P < 0.001 vs. NonC9‐F1, C9‐F1.