Table 1.
Demographic and Clinical Characteristics
| Sporadic | Familial (combined) | C9orf72 expansion | GRN mutation | MAPT mutation | Family history | |
|---|---|---|---|---|---|---|
| N | 135 | 99 | 43 | 14 | 28 | 14 |
| Sex (F:M) | 47:99 | 46:53 | 20:23 | 8:6 | 13:15 | 5:9 |
| Confirmed genetic status (pending) | 125 (10) | 96(3) | 41 (2) | 13 (1) | 28(0) | 14(0) |
| Age at visit [min max] | 63.6 (8.9)a [34 84] | 59.6 (9.6) [33 82] | 60.6 (9.6) [33 76] | 65.43 (8.2) [54 82] | 53.8 (8.7)d [37 70] | 62.0 (7.5) [45 70] |
| Age at onset [min max] | 57.8 (8.8)b [25 77] | 53.0 (10.2) [26 73] | 54.5 (10.5) [26 72] | 59.6 (8.2) [48 73] | 46.0 (8.4)e [30 59] | 55.9 (6.2) [42 66] |
| Year of Education | 15.7 (2.5) | 15.3 (2.6) | 15.6 (2.4) | 15.2 (3.8) | 14.6 (2.2) | 15.9 (2.1) |
| CDR-SB | 6.38 (3.3) | 7.28 (4.7) | 6.71 (3.5) | 10.29 (5.2) | 6.44 (5.2) | 7.68 (5.6) |
| CDR plus NACC FTLD SB | 8.65 (4.0) | 9.84 (6.0) | 9.12 (4.4) | 13.68 (6.6)f | 8.68 (6.6) | 10.57 (6.9) |
| CDR Language | 0.67 (0.7) | 0.92 (0.9) | 0.69 (0.7) | 1.39 (1.0) | 0.91 (1.0) | 1.18 (1.0) |
| CDR Comport | 1.60 (0.7) | 1.65 (0.7) | 1.72 (0.5) | 2 (0.8)i | 1.32 (0.7) | 1.71 (0.7) |
| FAQ | 18.8 (8.8) | 18.9 (8.9) | 18.2 (8.1) | 20.0 (11.4) | 18.9 (10.8) | 20.3 (6.9) |
| NPI-Q Total | 12.08 (7.5)c | 9.70 (6.2) | 10.05 (6.1) | 9.5 (5.2) | 8.68 (7.2) | 10.73 (5.8) |
| SEADL | 60.0 (21.8) | 56.8 (27.8) | 59.2 (26.1) | 40.7(25.9) | 61.1 (29.1) | 57.1 (29.5) |
| CGI-S | 3.7 (1.0) | 4 (1.2) | 3.8 (1.1) | 4.7 (1.0)j | 4 (1.4) | 3.8 (1.3) |
| GDS (15-item) | 3.3 (3.5) | 2.9 (3.0) | 2.1 (2.4) | 3.4 (4.1) | 3.5 (2.9) | 4.2 (4.0) |
| Social Behavior Observer Checklist Total | 12.3 (10.3) | 10.8 (8.9) | 11.8 (9.6) | 13/9 (12.1) | 8.4 (6.0) | 11.8 (8.0) |
For “Confirmed Genetic Status”, parentheses indicate number pending results. All other data are given as mean (sd). For age at visit and age at onset, the ranges are given in [].
a.
Sporadic>Familial (combined); Mann-Whitney; p=0.0043
b.
Sporadic> Familial (combined); p=0.0007.
c.
Sporadic>Familial (combined); p=0.0183
d,e
MAPT < all other groups; p<0.01.. GRN > MAPT and GRN > Sporadic (p<0.023).
i.
GRN >MAPT,p=0.0153.
j.
GRN > Sporadic p=0.0095.