Table 1:
Demographics and clinical characteristics for biofluid samples.
| Asymptomatic | Symptomatic | |||||
|---|---|---|---|---|---|---|
| non-carrier (N=48) |
GRN (N=40) |
non-carrier (N=47) |
GRN (N=32) |
C9orf72 (N=22) |
MAPT (N=25) |
|
| Age | ||||||
| Mean (SD) | 49.7 (11.4) | 51.2 (14.3) | 65.2 (8.54) | 62.1 (9.86) | 58.8 (7.65) | 53.3 (10.8) |
| Median [Min, Max] | 50.5 [26.0, 76.0] | 51.5 [23.0, 71.0] | 65.0 [40.0, 81.0] | 63.5 [32.0, 81.0] | 59.5 [35.0, 72.0] | 53.0 [31.0, 70.0] |
| Sex | ||||||
| Female | 19 (39.6%) | 18 (45.0%) | 17 (36.2%) | 18 (56.3%) | 13 (59.1%) | 14 (56.0%) |
| Male | 29 (60.4%) | 22 (55.0%) | 30 (63.8%) | 14 (43.8%) | 9 (40.9%) | 11 (44.0%) |
| Race | ||||||
| White | 46 (95.8%) | 36 (90.0%) | 45 (95.7%) | 30 (93.8%) | 22 (100%) | 25 (100%) |
| Asian | 1 (2.1%) | 4 (10.0%) | 1 (2.1%) | 1 (3.1%) | 0 (0%) | 0 (0%) |
| Other | 0 (0%) | 0 (0%) | 0 (0%) | 1 (3.1%) | 0 (0%) | 0 (0%) |
| Unknown | 1 (2.1%) | 0 (0%) | 1 (2.1%) | 0 (0%) | 0 (0%) | 0 (0%) |
| CDR® plus NACC FTLD Sum of Boxes Score at First Visit | ||||||
| Mean (SD) | 0 (0) | 0 (0) | 6.05 (2.96) | 8.45 (6.14) | 6.61 (4.39) | 8.84 (6.58) |
| Median [Min, Max] | 0 [0, 0] | 0 [0, 0] | 5.50 [1.50, 12.5] | 7.25 [0.500, 24.0] | 6.25 [0.500, 17.0] | 7.50 [0.500, 24.0] |
| Primary Clinical Phenotype | ||||||
| Clinically Normal | 48 (100%) | 37 (92.5%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
| Behavioral Variant Frontotemporal Dementia | 0 (0%) | 0 (0%) | 8 (17.0%) | 13 (40.6%) | 14 (63.6%) | 17 (68.0%) |
| Primary Progressive Aphasia - Agrammatic/Nonfluent Variant Subtype | 0 (0%) | 0 (0%) | 11 (23.4%) | 5 (15.6%) | 0 (0%) | 0 (0%) |
| Primary Progressive Aphasia - Logopenic Variant Subtype | 0 (0%) | 0 (0%) | 0 (0%) | 1 (3.1%) | 0 (0%) | 0 (0%) |
| Primary Progressive Aphasia - Semantic Variant Subtype | 0 (0%) | 0 (0%) | 2 (4.3%) | 0 (0%) | 1 (4.5%) | 0 (0%) |
| Corticobasal Syndrome - Typical Or Variant | 0 (0%) | 0 (0%) | 25 (53.2%) | 4 (12.5%) | 0 (0%) | 0 (0%) |
| Frontotemporal Dementia/Amyotrophic Lateral Sclerosis | 0 (0%) | 0 (0%) | 1 (2.1%) | 0 (0%) | 2 (9.1%) | 0 (0%) |
| Progressive Supranuclear Palsy/Richardson’s Syndrome | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (8.0%) |
| Amyotrophic Lateral Sclerosis | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 3 (13.6%) | 0 (0%) |
| Alzheimer’s Disease Dementia | 0 (0%) | 0 (0%) | 0 (0%) | 2 (6.3%) | 0 (0%) | 0 (0%) |
| MCI - Behavior | 0 (0%) | 0 (0%) | 0 (0%) | 3 (9.4%) | 0 (0%) | 2 (8.0%) |
| MCI - Cognitive Variants: aMCIsd, aMCImd, naMCIsd, naMCImd | 0 (0%) | 1 (2.5%) | 0 (0%) | 3 (9.4%) | 2 (9.1%) | 4 (16.0%) |
| Other | 0 (0%) | 2 (5.0%) | 0 (0%) | 1 (3.1%) | 0 (0%) | 0 (0%) |
| Sample Type | ||||||
| CSF and Plasma | 24 (50.0%) | 21 (52.5%) | 41 (87.2%) | 15 (46.9%) | 19 (86.4%) | 22 (88.0%) |
| Plasma Only | 24 (50.0%) | 18 (45.0%) | 6 (12.8%) | 14 (43.8%) | 1 (4.5%) | 2 (8.0%) |
| CSF Only | 0 (0%) | 1 (2.5%) | 0 (0%) | 3 (9.4%) | 2 (9.1%) | 1 (4.0%) |
| Subjects with Longitudinal (≥ 2) Plasma Samples | ||||||
| Yes | 27 (56.3%) | 29 (72.5%) | 1 (2.1%) | 14 (43.8%) | 1 (4.5%) | 0 (0%) |
| No | 21 (43.8%) | 11 (27.5%) | 46 (97.9%) | 18 (56.3%) | 21 (95.5%) | 25 (100%) |
| Subjects with Longitudinal (≥ 2) CSF Samples | ||||||
| Yes | 12 (25.0%) | 7 (17.5%) | 1 (2.1%) | 6 (18.8%) | 1 (4.5%) | 0 (0%) |
| No | 36 (75.0%) | 33 (82.5%) | 46 (97.9%) | 26 (81.3%) | 21 (95.5%) | 25 (100%) |