TABLE 1.
Characteristics of the participants
| bvFTD | HC | |||||
|---|---|---|---|---|---|---|
| bvFTD‐men n = 149 (69%) | bvFTD‐women n = 67 (31%) | All bvFTD n = 216 | HC‐men n = 131 (58%) | HC‐women n = 94 (42%) | All HC n = 225 | |
| Demographics and disease severity | ||||||
| Age at MRI (y) | 63.3 (10.4) | 63.5 (9.6) | 63.3 (10.1) | 62.4 (14) | 61 (10.5) | 61.8 (12.6) |
| Age at disease onset (y) | 57.7 (10.9) | 58.4 (9.8) | 57.9 (10.5) | – | – | – |
| Education (y) | 14.9 (4.2) | 14.8 (4.5) | 14.8 (4.3) | 15.5 (3.6) | 15.1 (4.1) | 15.4 (3.8) |
| CDRsb* | 6.6 (3.4) | 6.7 (3.5) | 6.6 (3.4)† | 0.0 (0.1) | 0.0 (0.1) | 0.0 (0.1)† |
| CDR plus NACC FTLD‡, | 8.7 (4.1) | 9.0 (4.1) | 8.8 (4.1)† | 0.0 (0.1) | 0.0 (0.1) | 0.0 (0.1)† |
| Cohort, No. (UCSF/CATFI) | 99/50 | 50/17 | 149/67 | 111/20 | 57/37 | 168/57 |
| Diagnostic certainty | ||||||
| Time of follow‐up (y) | 2.1 (2.0) | 1.4 (1.4) | 1.9 (1.9) | – | – | – |
| FTLD mutation,§ % | 19 | 30 | 22 | – | – | – |
| FTLD confirmed on autopsy, % | 36 | 25 | 32 | – | – | – |
| Neuropathological diagnosis,¶ No. of major neuropathological categories |
16 FTLD‐Tau 29 FTLD‐TDP 8 FTLD‐FUS |
3 FTLD‐Tau 14 FTLD‐TDP 0 FTLD‐FUS |
19 FTLD‐Tau 43 FTLD‐TDP 8 FTLD‐FUS |
– | – | – |
| Behavioral measures | ||||||
| Number of bvFTD diagnostic features* | 4.6 (1.2) | 4.5 (1.4) | 4.6 (1.2)† | 0 (0) | 0 (0) | 0 (0)† |
| Delusions, % | 11 # | 26 # | 16† | 0 | 0 | 0† |
| Hallucinations, % | 8 | 13 | 9† | 0 | 0 | 0† |
| Dysphoria/Aggression, % | 56 | 56 | 56† | 5 | 6 | 6† |
| Anxiety, % | 39 | 34 | 37† | 2 | 2 | 2† |
| Euphoria/Elation, % | 47 | 53 | 49† | 0 | 0 | 0† |
| Apathy/Indifference, % | 93 | 89 | 92† | 2 | 1 | 1† |
| Disinhibition, % | 78 # | 92 # | 83† | 0 | 0 | 0† |
| Irritability/Lability, % | 47 | 48 | 47† | 2 | 3 | 3† |
| Aberrant motor behavior, % | 64 | 72 | 66† | 0 | 0 | 0† |
| Sleep changes, % | 48 | 42 | 46† | 5 | 0 | 3† |
| Appetite changes, % | 81 | 76 | 80† | 7 | 5 | 3† |
| NPI total score | 40.3 (21.5) | 41.6 (20.3) | 40.7 (21.0)† | 2.7 (5.2) | 2.3 (4.5) | 2.5 (4.9) |
| NPI behavior count | 6.2 (2.4) | 6.5 (2.4) | 6.3 (2.4)† | 0.2 (0.7) | 0.1 (0.6) | 0.2 (0.6) |
| Geriatric depression scale | 9.3 (6.8) | 9.7 (7.2) | 9.4 (6.9)† | 3.9 (3.7) | 4.9 (5.4) | 4.3 (4.5) |
| Cognitive measures | ||||||
| MMSE | 23.8 (6.3) # | 21.4 (7.4) # | 23.1 (6.7)† | 29.1 (0.9) | 28.8 (1.3) | 29.0 (1.1)† |
| zMemory | −0.4 (0.8) | −0.6 (0.9) | −0.5 (0.8)† | 0.6 (0.5) | 0.7 (0.5) | 0.6 (0.5)† |
| zLanguage | −0.6 (0.8) | −0.9 (0.9) | −0.7 (0.9)† | 0.6 (0.4) | 0.6 (0.4) | 0.6 (0.4)† |
| zExecutive functions | −0.7 (0.7) | −0.7 (0.9) | −0.7 (0.7)† | 0.5 (0.5) | 0.5 (0.6) | 0.5 (0.5)† |
| zVisuospatial | −0.4 (1.1) | −0.7 (1.7) | −0.5 (1.3)† | 0.3 (0.5) | 0.3 (0.4) | 0.3 (0.4)† |
| Imaging characteristics | ||||||
| Quality of MRI,** | 80 (7) | 86 (1) | 82 (6)† | 84 (3) | 84 (2) | 84 (3)† |
| Total intracranial volume, mL | 1487 # | 1335 # | 1440 (153) | 1503 # | 1328 # | 1430 (135) |
| White matter hyperintensities, mL | 6.0 (10.5) | 4.2 (3.4) | 5.5 (8.9)† | 2.8 (4.0) # | 2.1 (3.2) # | 2.5 (3.7)† |
NPI measures were available in 389 (88%) of participants. All cognitive measures were available in at least 85% of participants.
Abbreviations: bvFTD, behavioral variant of frontotemporal dementia; CATFI, Catalan Frontotemporal Dementia Initiative; CDR plus NACC FTLD, CDR Dementia Staging Instrument PLUS National Alzheimer's Coordinating Center Behavior and Language Domains; CDRsb, Clinical Dementia Rating scale sum of boxes; MMSE, Mini‐Mental State Examination; MRI, magnetic resonance image; NPI, Neuropsychiatric Inventory; UCSF, University of California San Francisco.
CDRsb was available in 183 (85%) bvFTD participants and 188 (84%) of healthy controls.
Difference between all bvFTD group and HC group (P < .05).
CDR plus NACC FTLD was available in 145 (67%) of bvFTD participants and 127 (56%) of healthy controls.
A total of 48 FTLD‐related mutations were identified: 28 C9orf72 (15 with neuropathology available), 12 GRN (six with neuropathology available), six MAPT (three with neuropathology available) and two TARDBP.
The proportion of FTLD‐TDP was higher in women with FTLD diagnosis than in men (82% vs 55%, P < .05, Bonferroni adjusted). For additional details on the neuropathological findings please refer to Table S9.
Difference between men and women (P < .05, Bonferroni adjusted).
Imaging quality rating obtained from CAT12 software (percentages closer to 100% indicating a better quality of MRI).