Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study

Table 1 Subject characteristics for (a) CSF and (b) plasma measurements

(a) CSF cohort
	Non-carriers	Presymptomatic carriers			Symptomatic carriers^a			p
N	74	104	46
Sex, male (%)	34 (46%)	43 (41%)	28 (61%)	0.085
Age at collection, years Years	47 (39–58)	46 (35–56)	63 (55–69)	< 0.001
MMSE (n = 219)	30 (29–30)	30 (29–30)	26 (24–29)	< 0.001
CDR® + NACC FTLD-SB (n = 185)	0 (0–0)	0 (0–0)	9 (2–13)	< 0.001
Per genotype		GRN	C9orf72	MAPT	GRN	C9orf72	MAPT
N		46	42	16	11	28	7	-
Age at collection, years		54 (42–59)	43 (33–53)	42 (34–46)	67 (61–70)	60 (55–72)	59 (52–64)	< 0.001^b
Age at symptom onset, years	–	–	–	–	64 (54–67)	56 (49–62)	55 (52–56)	0.141
Disease duration, years	–	–	–	–	2.5 (1.0–4.3)	4.1 (2.1–8.0)	2.6 (0.4–8.0)	0.229

(b) Plasma cohort
	Non-carriers	Presymptomatic carriers			Symptomatic carriers^c			p
N	112	215			104
Sex, male (%)	49 (44%)	79 (37%)			64 (62%)			< 0.001
Age at collection, years Years	50 (39–60)	45 (35–55)			63 (58–69)			< 0.001
MMSE (n = 405)	30 (29–30)	30 (29–30)			25 (20–28)			< 0.001
CDR® + NACC FTLD-SB (n = 329)	0 (0–0)	0 (0–0)			8 (3–14)			< 0.001
Per genotype		GRN	C9orf72	MAPT	GRN	C9orf72	MAPT
N		88	80	47	36	47	21
Age at collection, years		51 (39–59)	44 (34–53)	40 (33–46)	64 (59–68)	66 (59–72)	58 (52–63)	< 0.001^b
Age at symptom onset, years	–	–	–	–	60 (55–66)	59 (55–66)	53 (47–57)	< 0.001^d
Disease duration, years	–	–	–	–	2.6 (1.8–4.2)	5 (2.6–6.6)	5.6 (1.5–6.8)	0.002^e

Continuous variables are expressed as median (interquartile range) and were compared between groups using Kruskal–Wallis tests. Sex distributions were compared between groups using Chi-square tests. MMSE Mini Mental State Examination, CDR Clinical Dementia Rating scale, SB sum of boxes
^aPhenotypes: behavioural variant FTD (bvFTD) (n = 32), primary progressive aphasia (PPA) (n = 5), FTD with amyotrophic lateral sclerosis (ALS) (n = 3), ALS without FTD (n = 3), progressive supranuclear palsy (PSP) (n = 1), memory-predominant FTD (n = 1), dementia not otherwise specified (n = 1)
^bSymptomatic mutation carriers were older than presymptomatic carriers in all genetic subgroups. ^cPhenotypes: bvFTD (n = 78), PPA (n = 16), FTD-ALS (n = 2), ALS without FTD (n = 5), PSP (n = 1), memory-predominant FTD (n = 1), dementia not otherwise specified (n = 1)
^dSymptomatic MAPT mutation carriers were younger at symptom onset than C9orf72 (p = 0.004) and GRN mutation carriers (p = 0.002)
^eSymptomatic C9orf72 mutation carriers had a longer disease duration than symptomatic GRN carriers at sample collection

ISSN: 1742-2094