Table 3.

Clinical characteristics of symptomatic carriers with low, moderate and high disease stages

	Estimated disease stage			P
Low (≤0.55)	Moderate (0.56–0.78)	High (≥0.79)
n	43	42	42	–
GRN	9	18	22	0.038
C9orf72	22	18	14
MAPT	12	6	6
Sex, male	29	27	19	0.080
Age at sample, years	62 (56–68)	62 (57–69)	64 (54–69)	0.741
MMSE	26 (24–29)	24 (19–27)	23 (16–27)	0.004a
CDR® + NACC FTLD-SB	8 (4–10)	10 (4–16)	11 (4–15)	0.430
Disease duration, years	4.4 (2.5–8.0)	2.6 (1.9–5.0)	3.9 (2.0–6.3)	0.052
Phenotype, n
bvFTD	37	28	28	0.038
PPA	3	12	11
Memory-predominant FTD	2	1	0
Dementia not otherwise specified	1	1	0
Corticobasal syndrome or progressive supranuclear palsy	0	0	3
CSF NfL, pg/ml	933 (722–1750)	3489 (1870–6073)	2867 (2480–5278)	<0.001b
Serum NfL, pg/ml	15 (12–22)	48 (37–89)	58 (41–85)	<0.001c
Serum pNfH, pg/ml	110 (56–235)	122 (84–206)	206 (76–464)	0.135
CSF NPTX2, pg/ml	741 (483–873)	399 (237–619)	780 (243–1111)	0.116
Plasma GFAP, pg/ml	127 (93–207)	222 (169–329)	294 (186–472)	<0.001d
CSF C1q, ng/ml	319 (267–464)	308 (215–369)	373 (318–598)	0.078
CSF C3b, ng/ml	2974 (2546–4501)	3162 (2657–3668)	4568 (2596–5819)	0.418

Continuous variables are shown as medians (IQR). Categorical variables were compared using Chi-square tests. Continuous variables were compared using Kruskal–Wallis tests, and in the case of statistically significant differences, post hoc tests with Bonferroni correction were performed. bvFTD = behavioural variant FTD.

^aHigh versus low disease stage: P = 0.005; moderate versus low disease stage: P = 0.045.

^bHigh versus low disease stage: P < 0.001; moderate versus low disease stage: P = 0.003.

^cHigh versus low disease stage: P < 0.001; moderate versus low disease stage: P < 0.001.

^dHigh versus low disease stage: P < 0.001; moderate versus low disease stage: P = 0.010.