Demographic, clinical and general neuropsychological characteristics of patient and healthy control groups
| C9ORF72 | MAPT | Sporadic FTD | Healthy controls | |
|---|---|---|---|---|
| Clinical features | ||||
| Number | 5 | 7 | 5 | 13 |
| Age (years) | 65 (8) | 62 (4) | 66 (11) | 62 (5) |
| Sex (M:F) | 5:0 | 5:2 | 5:0 | 10:3 |
| Disease duration (years) | 7 (3.9) | 5 (2.4) | 9.3 (6.3) | NA |
| Handedness (R:L) | 5:0 | 6:0 | 5:1 | 13:0 |
| CBI total score (range) | 119 (62–168) | 128 (57–200)* | 104 (30–214) | NA |
| CBI beliefs score (range) | 3.8 (0–12) | 2.8 (0–6)* | 3.2 (0–7) | NA |
| Psychiatric symptoms† | 5 | 1 | 3 | NA |
| Psychotic features | 1‡ | 0 | 0 | NA |
| Neuropsychological findings | ||||
| General intellect | ||||
| MMSE (/30) | 22 (5.4) | 24 (5.2) | 25 (2.2) | NA |
| WASI verbal IQ | 83 (22) | 74 (25) | 82 (18) | 122 (14) |
| WASI performance IQ | 90 (25) | 94 (11) | 102 (19) | 119 (12) |
| NART predicted IQ | 103 (19) | 97 (17) | 102 (17) | 120 (9) |
| Episodic memory | ||||
| RMT words (/50) | 37 (6.1) | 32 (5.8) | 35 (2.5) | 47 (3) |
| RMT faces (/50) | 36 (7.5) | 27 (2.8) | 34 (9.0) | 42 (5.9) |
| Semantic memory | ||||
| BPVS (/150) | 132 (17) | 123 (17) | 131 (17) | 148 (1.7) |
| Executive function | ||||
| WASI similarities | 26 (6.7) | 20 (14) | 22 (14) | 42 (2.9) |
| WASI matrices | 15 (11) | 16 (5.7) | 17 (10) | 25 (5.1) |
| D-KEFS Stroop (secs) | 127 (47) | 87 (43) | 92 (33) | 52 (11) |
| Social cognition | ||||
| TASIT emotion (/14) | 8.4 (1.6) | 8.7 (1.6) | 8.1 (0.6)§ | 11 (1.3)¶ |
| TASIT sarcasm (/24) | 15 (4.8) | 15 (7.7) | 14 (5.2)§ | 22 (2.3)¶ |
| Other skills | ||||
| GNT (/30) | 20 (3.9)** | 3.8 (4.0) | 10 (11) | 27 (3) |
| Forward DS (/12) | 6.5 (3.1) | 8.5 (2.1) | 8.4 (3.2) | 8.9 (1.8) |
| Reverse DS (/12) | 4.2 (0.9) | 7.7 (1.7) | 6.0 (3.4) | 6.4 (2.1) |
| GDA (/24) | 9.5 (10) | 12 (5.8) | 11 (7.7) | 15 (3.2) |
| VOSP (/20) | 17 (2.5) | 16 (2.4) | 17 (1.3) | 18 (2) |
Mean (SD) values are shown unless otherwise indicated. Maximum test scores are in parentheses. Scores statistically different from control group performance at p<0.05 are in bold.
*Completed by six participants.
†Including early, prominent anxiety, irritability, paranoia, somatically focussed preoccupations, social phobia (see online supplementary material).
‡Verbal auditory hallucinations.
§Completed by four participants.
¶Data in a separate group of 37 age-matched healthy individuals.
**Significantly superior to both other patient groups.
BPVS, British Picture Vocabulary Scale; C9ORF72, pathogenic expansions associated with C9ORF72; CBI, Cambridge Behavioural Inventory: Wedderburn et al41; D-KEFS Stroop (response inhibition), Delis-Kaplan Executive Function System; DS, digit span; FTD, frontotemporal dementia; GDA, Graded Difficulty Arithmetic; GNT, Graded Naming Test; MMSE, Mini-Mental State Examination score; MAPT, pathogenic mutations in the microtubule-associated protein tau gene; NA, not applicable; NART, National Adult Reading Test; RMT, Recognition Memory Test; TASIT, The Awareness of Social Inference Test; VOSP, Visual Object and Space Perception battery; WASI, Wechsler Abbreviated Scale of Intelligence.