Table 1.
Characteristics of patients with frontotemporal dementia (FTD) and healthy elderly controls
| All FTD | Clinical FTD | Confirmed FTD | FTD - tau | FTD - TDP | Controls | |
|---|---|---|---|---|---|---|
| N | 704 | 449 | 255 | 104 | 140 | 456 |
| AAO (years) | 58.1 | 58.9 | 56.4 | 55.7 | 58.1 | 76.6 |
| N Mutation | - | - | 166 | 53 | 106 | - |
| N Neuropathology | - | - | 139 | 70 | 65 | - |
| N ApoE4+ | 220 | 139 | 81 | 32 | 44 | 105 |
| ApoE4+ AAO (years) | 57.5 | 59.1 | 54.9 | 53.0 | 58.0 | 75.2 |
| ApoE4- AAO (years) | 58.3 | 58.9 | 57.4 | 56.9 | 58.1 | 77.1 |
| N Aβ+ | - | - | 44 | 26 | 18 | - |
| AAO Aβ+ | - | - | 61.0 | 60.2 | 62.2 | - |
| AAO Aβ- | - | - | 57.1 | 56.9 | 58.4 | - |
| AAO (N) ApoE4+/Aβ - | - | - | 51.4 (12) | 49.3 (6) | 56.2 (5) | - |
| AAO (N) ApoE4-/Aβ - | - | - | 58.1 (71) | 58.4 (31) | 58.7 (37) | - |
| AAO (N) ApoE4+/Aβ+ | - | - | 56.1 (23) | 54.9 (15) | 58.0 (8) | - |
| AAO (N) ApoE4-/Aβ+ | - | - | 66.3 (21) | 67.0 (11) | 65.6 (10) | - |
NOTE. AAO refers to age at clinical onset, given in years of age; N refers to number of cases. “All FTD” comprises all 704 patients with FTD included in this study; these were all patients from the UCL FTD cohort except patients previously shown to carry mutations not typically associated with FTD [12]. “Clinical FTD” refers to the 449 patients with a clinical diagnosis of FTD but without a genetic diagnosis despite previous testing on a dementia panel [12] and no available neuropathological data.
NOTE. “Confirmed FTD” comprises 255 patients with a genetic or neuropathological confirmation of their diagnosis or both. It includes 59 patients with C9orf72 expansions, 53 patients with MAPT mutations, 44 patients with GRN mutations, five cases with VCP mutations, two cases with TBK1 mutations, as well as one case each with a mutation in CHMP2B, TYROBP, and TARDBP mutation. “Confirmed FTD” also includes 139 patients with neuropathologically confirmed disease: 70 patients with tau pathology and 65 patients with TDP-43 pathology, as well as 4 neuropathologically confirmed FUS cases. 19 patients with neuropathologically confirmed tau pathology also had a genetically confirmed deleterious MAPT mutation, whereas 31 patients with neuropathologically confirmed TDP-43 pathology were found to also carry a deleterious mutation (13 C9orf72 expansion, 17 GRN mutations, 1 TBK1 mutation). Patients with both genetically and neuropathologically confirmed disease were only counted once, explaining disparities of sums in the table. “N Mutation–Tau” refers cases due to causal mutations in the MAPT gene. “N Mutation–TDP” refers to causal mutations in the C9orf72 (59 cases), GRN (44 cases), TARDBP (one case) and TBK1 (2 cases) genes, which are known to cause TBK-43 pathology. “N Mutation–Confirmed FTD” comprises all genetically confirmed cases as described previously. Subcohorts referring to Aβ only include cases with available neuropathological data. For 7 patients with tau pathology and 5 patients with TDP pathology, information on Aβ status was not available; for one tau patient, information on AAO was not available. AAO is given in years, and in controls refers to age at testing. ApoE4+ includes all carriers of at least one ApoE4 allele, both homo- and heterozygous.