Table 4.
Demographic and clinical characteristics of TBK1 carriers versus C9orf72, GRN or non-mutation carriers
| TBK1 | C9orf72 | GRN | No mutation |
||||
|---|---|---|---|---|---|---|---|
| Familial | Sporadic | Unknown | |||||
| FTD patients (index), n | 7 (5) | 65 (51) | 52 (21) | 76 (76) | 102 (102) | 81 (81) | |
| Male, n (%) | 3 (42.9) | 36 (55.4) | 23 (44.2) | 44 (57.9) | 57 (55.9) | 48 (59.3) | |
| Age at onset, y | Mean (SD) | 63.3 (7.7) | 54.3 (9.2) | 61.0 (6.5) | 63.9 (9.2) | 61.7 (11.0) | 68.5 (11.4) |
| Median (range) | 64 (48–70) | 54 (29–75) | 62 (45–70) | 65 (29–79) | 63 (29–83) | 72 (42–82) | |
| Disease duration, y | Mean (SD) | 8.2 (4.9) | 6.0 (4.8) | 5.6 (2.1) | 6.0 (3.14) | 7.1 (4.2) | 8.8 (3.0) |
| Median (range) | 8.7 (2–13) | 4.7 (1–19) | 5.4 (2–11) | 6.0 (1–14) | 7.0 (1–22) | 9.0 (5–12) | |
| Familial history, n (%) | F-AD | 3 (42.9) | 35 (53.8) | 18 (34.6) | 15 (19.7) | ||
| F | 3 (42.9) | 21 (32.3) | 16 (30.8) | 61 (80.3) | |||
| S | 1 (14.3) | 3 (4.6) | 5 (9.6) | 102 (100.0) | |||
| U | 0 | 6 (9.2) | 13 (25.0) | 81 (100.0) | |||
| Clinical subtype, n (%*) | BvFTD | 6 (85.7) | 51 (83.6) | 19 (45.2) | 41 (63.1) | 62 (67.4) | 19 (65.5) |
| PNFA | 0 | 5 (8.2) | 16 (38.1) | 5 (7.7) | 13 (14.1) | 4 (13.8) | |
| SD | 1 (14.3) | 3 (4.9) | 4 (9.5) | 14 (21.5) | 7 (7.6) | 4 (13.8) | |
| LA | 0 | 0 | 0 | 0 | 2 (2.2) | 0 | |
| PPA U | 0 | 0 | 0 | 1 (1.5) | 0 | 0 | |
| Mixed FTD | 0 | 2 (3.3) | 3 (7.1) | 4 (6.2) | 8 (8.7) | 2 (6.9) | |
| Behavioural subtype, n (%*) | Apathetic | 1 (16.7) | 14 (31.1) | 14 (87.5) | 13 (36.1) | 25 (41.7) | 6 (66.7) |
| Disinhibition | 5 (83.3) | 31 (68.9) | 2 (12.5) | 23 (63.9) | 35 (58.3) | 3 (33.3) | |
| FTD-ALS , n (%*) | Total | 1 (14.3) | 15 (23.1) | 0 | 1 (1.3) | 5 (4.9) | 3 (3.7) |
| Bulbar onset | 0 | 3 (4.6) | 0 | 0 | 1 (1.0) | 1 (1.2) | |
| Spinal onset | 1 (14.3) | 3 (4.6) | 0 | 1 (1.3) | 0 | 0 | |
| Bulbospinal onset | 0 | 5 (7.7) | 0 | 0 | 3 (2.9) | 0 | |
| Unknown onset | 0 | 4 (6.2) | 0 | 0 | 1 (1.0) | 2 (2.5) | |
| Extrapyramidal symptoms, n (%*) | 4 (57.1) | 9 (17.6) | 7 (18.9) | 22 (33.3) | 24 (27.9) | 10 (37.0) | |
| Psychiatric symptoms, n (%*) | Total | 4 (57.1) | 16 (30.7) | 7 (18.9) | 15 (24.6) | 28 (33.3) | 5 (25.0) |
| Psychosis | 2 (28.6) | 8 (15.3) | 2 (5.4) | 4 (6.6) | 12 (14.3) | 2 (10.0) | |
| Depression | 2 (28.6) | 7 (13.4) | 5 (13.5) | 7 (11.5) | 14 (16.7) | 3 (15.0) | |
| Abuse | 0 | 4 (7.7) | 0 | 4 (6.6) | 4 (4.8) | 1 (5.0) | |
BvFTD = behavioural variant of FTD; F = familial; F-AD = familial-autosomal dominant; LA = logopenic progressive aphasia; PNFA = progressive non-fluent aphasia; PPA U = primary progressive aphasia unspecified subtype; S = sporadic; SD = standard deviation ; U = unknown.
*Percentage (%) within group of patients for whom we have information.