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-carriers | Presymptomatic carriers | Symptomatic carriers | P value | |
| N | 70 | 106 | 54 | – |
| Sex, male (%) | 31 (44%) | 47 (44%) | 32 (59%) | 0.157* |
| Age at CSF collection, years | 47 (40–58) | 45 (34–56) | 63 (56–69) | <0.001† |
| MMSE | 30 (29–30) | 30 (29–30) | 26 (24–28) | <0.001† |
| CDR plus FTD modules | 0 (0–0) | 0 (0–0) | 9 (3–10) | <0.001† |
| Disease duration, years | – | – | 3 (2–6) | – |
| NPTX2, pg/mL | 990 (597–1373) | 1003 (624–1358) | 643 (301–872) | <0.001‡ |
| Gene-specific information | GRN | C9orf72 | MAPT | GRN | C9orf72 | MAPT | P value |
| N | 47 | 42 | 17 | 15 | 31 | 8 | – |
| Age at CSF collection, years | 54 (41–58) | 43 (32–53) | 42 (34–46) | 64 (61–69) | 60 (55–70) | 61 (53–64) | <0.001† |
| NPTX2, pg/mL | 1072 (661–1406) | 901 (534–1387) | 1079 (389–1263) | 741 (385–870) | 609 (305–884) | 561 (233–861) | <0.001‡ |
| Age at symptom onset, years | – | – | – | 63 (54–66) | 55 (49–62) | 55 (52–58) | 0.109† |
| Disease duration, years | – | – | – | 2 (1–4) | 4 (2–8) | 3 (1–8) | 0.238† |
*χ2 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.