Table 1.
Characteristics of study cohorts
Group | N | Female gender | Age | Age at onset | FTD only | Pathological diagnosis |
---|---|---|---|---|---|---|
Cohort 1 – controls and C9ORF72 repeat expansion carriers (FTD, FTD/MND, and MND, or other diagnosis) | ||||||
Controls | 376 | 173 (46.0%) | 61.2 ± 10.2 (35–90) | N/A | N/A | N/A |
All repeat expansion carriers | 325 | 148 (45.5%) | 59.2 ± 9.9 (35–90) | 56.8 ± 9.2 (34–83) | 86 (26.5%) | 118 (36.3%) |
FTD, FTD/MND, and MND probands | 260 | 114 (43.8%) | 59.5 ± 10.0 (35–90) | 56.9 ± 9.0 (34–83) | 69 (26.5%) | 107 (41.2%) |
FTD probands | 69 | 28 (40.6%) | 63.1 ± 12.3 (35–90) | 58.1 ± 9.6 (34–79) | 69 (100.0%) | 40 (58.0%) |
FTD/MND probands | 71 | 25 (35.2%) | 60.6 ± 8.5 (39–80) | 56.2 ± 9.0 (34–74) | 0 (0.0%) | 51 (71.8%) |
MND probands | 120 | 61 (50.8%) | 56.9 ± 8.6 (37–83) | 56.5 ± 8.7 (37–83) | 0 (0.0%) | 16 (13.3%) |
Cohort 2 – controls and FTD or FTD/MND patients without C9ORF72 repeat expansions or GRN mutations | ||||||
Controls | 765 | 363 (47.4%) | 67.1 ± 10.0 (20–95) | N/A | N/A | N/A |
All FTD or FTD/MND patients | 586 | 273 (46.6%) | 66.8 ± 10.4 (26–99) | 62.4 ± 9.8 (26–95) | 531 (90.6%) | 141 (24.1%) |
All FTD patients | 531 | 251 (47.3%) | 67.1 ± 10.1 (26–99) | 62.7 ± 9.5 (26–86) | 531 (100.0%) | 101 (19.0%) |
Pathologically diagnosed | 101 | 48 (52.5%) | 74.0 ± 11.2 (49–99) | 64.5 ± 11.1 (39–86) | 101 (100.0%) | 101 (100.0%) |
Clinically diagnosed | 430 | 203 (47.2%) | 65.5 ± 9.1 (26–90) | 62.4 ± 9.1 (26–85) | 430 (100.0%) | 0 (0.0%) |
Continuous variables are summarized with the sample mean ± standard deviation (range). For cohort 1, the age provided is age at blood draw in controls, age at onset in clinically diagnosed patients, and age at death in pathologically diagnosed patients. For cohort 2, the age provided is age at blood draw in controls, age at diagnosis in clinically diagnosed patients, and age at death in pathologically diagnosed patients. In cohort 1, information was unavailable regarding age (n=42) and age at onset (n=57). In cohort 2, information was unavailable regarding age at onset (n=95).