Table 1

Subject characteristics. The clinical phenotype of symptomatic mutation carriers was behavioural variant FTD (n=37), primary progressive aphasia (n=7), FTD with amyotrophic lateral sclerosis (ALS) (n=4), ALS without FTD (n=3), memory-predominant FTD (n=1), progressive supranuclear palsy (n=1) and dementia not otherwise specified (n=1). Continuous variables are reported as medians±IQR

Non-carriersPresymptomatic carriersSymptomatic carriersP value
N7010654
Sex, male (%)31 (44%)47 (44%)32 (59%)0.157*
Age at CSF collection, years47 (40–58)45 (34–56)63 (56–69)<0.001†
MMSE30 (29–30)30 (29–30)26 (24–28)<0.001†
CDR plus FTD modules0 (0–0)0 (0–0)9 (3–10)<0.001†
Disease duration, years3 (2–6)
NPTX2, pg/mL990 (597–1373)1003 (624–1358)643 (301–872)<0.001‡
Gene-specific information GRN C9orf72 MAPT GRN C9orf72 MAPT P value
N47421715318
Age at CSF collection, years54 (41–58)43 (32–53)42 (34–46)64 (61–69)60 (55–70)61 (53–64)<0.001†
NPTX2, pg/mL1072 (661–1406)901 (534–1387)1079 (389–1263)741 (385–870)609 (305–884)561 (233–861)<0.001‡
Age at symptom onset, years63 (54–66)55 (49–62)55 (52–58)0.109†
Disease duration, years2 (1–4)4 (2–8)3 (1–8)0.238†
  • 2 test.

  • †Kruskall-Wallis tests.

  • ‡ANCOVA with age as covariate.

  • ANCOVA, Analysis of covariance; CDR, Clinical Dementia Rating scale; CSF, cerebrospinal fluid; FTD, frontotemporal dementia; MMSE, Mini Mental State Examination; NPTX, neuronal pentraxin.