Table 1.
Demographic, Clinical, Genetic, and Neuropathologic Data of Cases
| Familial and sporadic FTDs | Demographic data
|
Diagnosis
|
||||
|---|---|---|---|---|---|---|
| Onset (years) [mean (range)] | Duration (years) [mean (range)] | Gender | Clinical diagnosis (n, %) | Pathological diagnosis (n, %) | Pathological diagnosis-other (n, %) | |
| Familial FTD with PGRN mutation (n = 36) | ||||||
| 59.8 (50 to 74) | 7.06 (3 to 15) | 20 F/16 M | FTD (27, 75) | FTLD-U (36, 100) | AD (8, 22) | |
| PPA (2, 6) | AD, HS (2, 6) | |||||
| FTD + CBD (2, 6) | AD, MS (1, 3) | |||||
| DAT/dementia (5, 14) | CVD (4, 11) | |||||
| HS (1, 3) | ||||||
| DLB, PD (1, 3) | ||||||
| Familial FTD with VCP mutation (n = 5) | ||||||
| 51.4 (38 to 62) | 7.2 (5 to 9) | 4 F/1 M | FTD (5, 100) | FTLD-U (5, 100) | ||
| Familial FTD with CHMP2Bmutation (n= 4) | ||||||
| 53.3 (50 to 48) | 12.8 (9 to 21) | 3 F/1 M | FTD (4, 100) | FTLD-U (4, 100) | ||
| Familial FTD with/without MND linked to chromosome 9 (n= 7) | ||||||
| 53.8 (39 to 59) | 3.7 (2 to 11) | 4 F/3 M | FTD (1, 14) | FTLD-U (2, 29) | ||
| FTD + MND (4, 57) | FTLD-MND (5, 71) | |||||
| MND (2, 28) | ||||||
| Other familial FTD cases (n = 29) | ||||||
| 57.1 (33 to 69) | 7.4 (2 to 19) | 15 F/14 M | FTD (21, 72) | FTLD-U (27, 93) | AD (2, 7) | |
| PPA (2, 7) | FTLD-MND (2, 7) | AGD (3, 10) | ||||
| DAT/dementia (6, 21) | HS (1, 3) | |||||
| AD, DLB (1, 3) | ||||||
| Sporadic FTD cases (n = 72) | ||||||
| 60.5 (33 to 89) | 7.5 (2 to 18) | 28 F/44 M | FTD (49, 68) | FTLD-U (61, 85) | AD (9, 13) | |
| PPA (6, 8) | FTLD-MND (11, 15) | HS (3, 4) | ||||
| CBD (3, 4) | AGD (2, 3) | |||||
| PPA + CBD (1, 1) | CBD (1, 1) | |||||
| DAT/dementia (13, 18) | ||||||
| Familial FTD and MND (n = 17) | ||||||
| 51.0 (44 to 63) | 6.6 (1 to 6) | 5 F/12 M | PPA + MND (1, 6) | FTLD-MND (17, 100) | AD (2, 12) | |
| FTD + MND (16, 94) | CVD (1, 6) | |||||
| Sporadic FTD and MND (n = 23) | ||||||
| 54.7 (35 to 72) | 4.0 (1 to 11) | 6 F/19 M | FTD + MND (21, 92) | FTLD-U (1, 4) | ||
| PPA + MND (2, 8) | FTLD-MND (22, 96) | |||||
| Other familial and sporadic FTD cases (non-FTLD-U) FTLD (n = 2) | ||||||
| 75.5 (62 to 89) | 6 (3 to 9) | 2 F/0 M | FTD (1, 50) | FTLD (2, 100) | Infarcts (1, 50) | |
| DAT (1, 50) | ||||||
| 65 (NA) | 8 (NA) | 5 F/6 M | FTD (11, 84) | PICK (13, 100) | AD (3, 23) | |
| DAT (1, 8) | ||||||
| CJD (1, 8) | ||||||
| Corticobasal degeneration (n = 19) | ||||||
| 70.0 (57 to 78) | 7.6 (5 to 12) | 8 F/6 M | FTD (10, 53) | CBD (19, 100) | AD, HS (1, 5) | |
| CBD (9, 47) | ||||||
| Progressive supranuclear palsy (n = 4) | ||||||
| 73 (NA) | 3 (NA) | NA | FTD + PD (4, 100) | PSP (4, 100) | AD (1, 25) | |
| FTD with MAPTmutation (n = 5) | ||||||
| 60 (57 to 63) | 14 (10 to 18) | 0 F/2 M | FTD (4, 80) | FTD-MAPT (5, 100) | ||
| Dementia (1, 20) | ||||||
| Neuronal intermediate filament inclusion disease (n = 6) | ||||||
| 37 (25 to 48) | 3.7 (3 to 4) | 2 F/2 M | FTD (5, 83) | NIFID (6, 100) | ||
| PLS (1, 17) | ||||||
| Basophilic inclusion body disease (n = 2) | ||||||
| 29 (NA) | 10 (NA) | 0 F/2 M | FTD (1, 50) | BIBD (2, 100) | ||
| CBD (1, 50) | ||||||
| Hereditary diffuse leukoencephalopathy with spheroids (n = 2) | ||||||
| 37.5 (36 to 39) | 8.5 (7 to 10) | 2 F/0 M | FTD (2, 100) | HDLS (2, 100) | ||
| Other diseases | ||||||
| Alzheimer’s disease (n = 19) | ||||||
| 73 (59 to 99) | 8 (4 to 13) | 7 F/9 M | DAT (18, 95) | AD (19, 100) | Lewy bodies (3, 16) | |
| FTD (1, 5) | Infarct (1, 5) | |||||
| HS (1, 5) | ||||||
| Argyrophilic grain disease (n = 2) | ||||||
| 70.5 (54 to 87) | 8.5 (7 to 10) | 2 F/0 M | FTD (1, 50) | AGD (2, 100) | ||
| Dementia (1, 50) | ||||||
| Tangle-only dementia (n = 2) | ||||||
| 74 (NA) | 4 (NA) | 1 F/1 M | DAT/dementia (2, 100) | TOD (2, 100) | ||
| Parkinson’s disease (n = 3) | ||||||
| 51 (35 to 67) | 16 (10 to 20) | 1 F/2 M | PD (3, 100) | PD (3, 100) | DLB (2, 67) | |
| HS (1, 33) | ||||||
| Dementia with Lewy bodies (n= 8) | ||||||
| 65.5 (62 to 69) | 13 (5 to 13) | 4 F/4 M | DLB (3, 38) | DLB (8, 100) | AD (7, 87) | |
| DAT + PD (2, 25) | PD (1, 13) | |||||
| DAT/dementia (3, 38) | ||||||
| Multiple system atrophy (n = 3) | ||||||
| NA | NA | NA | MSA (3, 100) | MSA (3, 100) | ||
| Trinucleotide repeat disease (n = 3) | ||||||
| 38 (NA) | 6 (NA) | 1 F/2 M | HD (1, 33) | HD (1, 33) | Tauopathy | |
| HD + FTD (1, 33) | SCA (2, 67) | |||||
| FTD (1, 33) | ||||||
| Hippocampal sclerosis (n = 2) | ||||||
| 43 (NA) | 6 | 2 F/0 M | DAT (1, 50) | HS (2, 100) | AD (1, 50) | |
| PD + DAT (1, 50) | ||||||
| Normal adult brain (n = 19) | ||||||
| 83.8** (73 to 98) | NA | 8 F/11 M | NL (15, 79) | NL (19, 100) | Gliosis (1, 5) | |
| Schizophrenia (4, 21) | ||||||
AGD, argyrophilic grain disease; BIBD, basophilic inclusion body disease; CVD, cerebrovascular disease; PGRN, progranulin; VCP, valosin-containing protein; CHMP2B, charged multivesicular body protein 2B; CJD, Creutzfeldt-Jakob disease; DAT, dementia of the Alzheimer’s type; DLB, dementia with Lewy bodies; CBD, corticobasal degeneration; FTD, frontotemporal dementia; FTD-MAPT, FTD with tau mutation; FTLD, frontotemporal lobar degeneration; FTLD-MND, FTLD with ubiquitin-positive, tau-negative inclusions and MND; FTLD-U, FTLD with ubiquitin-positive, tau-negative inclusions but without MND; HD, Huntington’s disease; HDLS, hereditary diffuse leukoencephalopathy with neuroaxonal spheroids; HS, hippocampal sclerosis; MS, multiple sclerosis; MND, motor neuron disease; MSA, multiple system atrophy; NIFID, neuronal intermediate filament inclusion disease; PD, Parkinson’s disease; PSP, progressive supranuclear palsy; SCA, spinocerebellar ataxia; PICK, Pick disease; PPA, primary progressive aphasia; TOD, tangle-only dementia; NA, not available; NL, normal adult brain with no neurologic or psychiatric disease; F, female; M, male.
Age at death.