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. Author manuscript; available in PMC: 2015 Mar 1.
Published in final edited form as: Acta Neuropathol. 2014 Jan 3;127(3):397–406. doi: 10.1007/s00401-013-1240-4

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).

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