Table 1

Demographic, cognitive and biomarker data from study participants

ControlsPresymptomatic mutation carriersSymptomatic mutation carriers
C9orf72 GRN MAPT C9orf72 GRN MAPT
Number of participants183748834403119
Sex: number male (%)81
(44.3)
29
(39.2)
34
(38.6)
13
(38.2)
27*†
(67.5)
16
(51.6)
11
(57.9)
Median (IQR) age (years)43.8
(36.3–55.1)
44.1
(34.4–52.9)
42.4
(34.6–52.7)
36.2*
(31.6–44.9)
66.0*†
(60.7–71.4)
64.3*‡
(59.9–70.2)
58.3*§
(53.9–64.3)
Mean (range) age at onset (years)N/AN/AN/AN/A59
(34–71)
61
(49–76)
53
(37–66)
Median (IQR) disease duration (years)N/AN/AN/AN/A5.6
(3.6–6.9)
2.6
(1.6–4.3)
4.3
(2.5–9.3)
DiagnosisN/AN/AN/AN/A30 bvFTD, 8 ALS/FTD-ALS, 1 PPA, 1 PSP15 bvFTD, 14 PPA, 1 CBS, 1 other19 bvFTD
Median (range) MMSE30
(26–30)
30
(25–30)
30
(26–30)
30
(27–30)
26*†
(7–30)
22*‡
(0–29)
24*§
(6–30)
Median (range) FTLD-CDR-SOB0.0
(0.0–3.0)
0.0
(0.0–3.0)
0.0
(0.0–2.5)
0.0
(0.0–2.5)
10.0*†
(0.0–22.0)
10.5*‡
(2.0–21.0)
8.5*§
(1.0–21.0)
Median (IQR) plasma NfL (pg/mL)9.3
(6.8–13.0)
11.3
(8.3–17.0)
9.2
(7.0–12.8)
8.4
(6.3–9.7)
46.0
(22.8–62.6)
92.7
(54.8–130.1)
20.5
(15.4–37.6)
Median (IQR) plasma GFAP (pg/mL)105.8
(80.4–146.1)
116.1
(88.3–180.0)
113.4
(80.5–168.1)
89.1
(70.9–151.0)
165.7
(124.8–245.3)
272.2
(211.5–417.8)
123.3
(85.2–206.7)
  • For sex, age, MMSE and FTLD-CDR-SOB, significant differences are shown at p<0.05:

  • *Compared with controls.

  • †In C9orf72 group between symptomatic and presymptomatic carriers.

  • ‡In GRN group between symptomatic and presymptomatic carriers.

  • §In MAPT group between symptomatic and presymptomatic carriers.

  • ALS, amyotrophic lateral sclerosis; bvFTD, behavioural varaint frontotemporal dementia; CBS, corticobasal syndrome; FTLD-CDR-SOB, Frontotemporal Lobar Degeneration-Clinical Dementia Rating scale-Sum Of Boxes; GFAP, glial fibrillary acidic protein; MMSE, Mini-Mental State Examination; N/A, not applicable; NfL, neurofilament light chain; PPA, primary progressive aphasia; PSP, progressive supranuclear palsy.