Table 1.
Demographic and clinical data
| Total | Affected mutation carriers | Presymptomatic mutation carriers | Non-carriers | p-value | ||
|---|---|---|---|---|---|---|
| Number of individuals | 221 | 47 | 98 | 76 | – | |
| Sex distribution [F/M] | 119/102 | 20/27 | 58/40 | 41/35 | 0.17a | |
| Age [mean ± SD (range)] | 50 ± 14 (20–76) | 62 ± 9 (38–76) | 46 ± 12 (20–74) | 47 ± 13 (20–69) | 3e-14b | |
| Age at onset [mean ± SD (range)] | 58 ± 9 (35–73) | – | ||||
| Mutation [N (%)] | C9orf72 | 27 (57) | 41 (42) | |||
| GRN | 12 (26) | 38 (39) | ||||
| MAPT | 7 (15) | 16 (16) | ||||
| TBK1 | 1 (2) | 3 (3) | ||||
| Clinical phenotype [N (%)] | bvFTD | 32 (68) | ||||
| PPA | 7 (15) | |||||
| Otherc | 8 (17) | |||||
Age measured in years
AMC affected mutation carriers, PMC presymptomatic mutation carriers, NC non-carriers, C9orf72 chromosome 9 open reading frame 72, GRN progranulin, MAPT microtubule associated protein tau, TBK1 TANK-binding kinase 1, bvFTD behavioural variant frontotemporal dementia, PPA primary progressive aphasia, FTD-ALS frontotemporal dementia with amyotrophic lateral sclerosis, PSP progressive supranuclear palsy, D-NOS dementia not otherwise specified
aFisher’s exact test
bANOVA. Tukey’s Honestly Significant Difference (Tukey’s HSD) post-hoc test was performed for pairwise comparisons (AMC vs NC, p = 3e-11; AMC vs PMC, p = 2e-13; PMC vs NC, p = 0.8)
cOther clinical phenotypes included ALS (n = 4), FTD-ALS (n = 1), PSP (n = 2), D-NOS (n = 1)