Table 1.
Description of patients
| # | Group | GRN Mutation* | Sex | Age at death | Clinical diagnosis** | Primary neuropath diagnosis*** | PMI (h) |
|---|---|---|---|---|---|---|---|
| 1 | Ctrl | n/a | F | 81 | MCI, amnestic | Braak 2 | 30.3 |
| 2 | Ctrl | n/a | M | 77 | MCI, executive | AGD | 4.9 |
| 3 | Ctrl | n/a | F | 86 | Control | CVD; AGD | 7.8 |
| 4 | Ctrl | n/a | M | 76 | Control | Braak 2, limbic AGD | 8.2 |
| 5 | Ctrl | n/a | F | 86 | Control | iLBD, brainstem predominant | 6.4 |
| 6 | GRN | c.1145del:p.Thr382Serfs*30 | M | 74 | nfvPPA/CBS | FTLD-TDP-A | 30.9 |
| 7# | GRN | c.347C > A:p.Ser116* | M | 68 | bvFTD | FTLD-TDP-A | 13.5 |
| 8 | GRN | c.264 + 2 T > C | F | 73 | nfvPPA/CBS | FTLD-TDP-A | 20.7 |
| 9 | GRN | c.1477C > T:p.Arg493* | F | 66 | bvFTD | FTLD-TDP-A | 7.4 |
| 10 | GRN | c.709-2A > G | M | 64 | bvFTD | FTLD-TDP-A | 7.2 |
| 11 | GRN | c.1256_1263dup:p.Ile422Glufs*72 | M | 66 | DLB | LBD, FTLD-TDP-A | 10.1 |
| 12 | GRN | c.1A > T:p.Met1? | F | 59 | CBS | FTLD-TDP-A | 9.5 |
| 13 | GRN | c.1477C > T:p.Arg493* | F | 70 | PPA, unspecified | FTLD-TDP-A | 9.1 |
| 14 | GRN | c.1216C > T:p.Gln406* | F | 56 | bvFTD | FTLD-TDP-A | 7.6 |
| 15 | GRN | c.349 + 1G > A | F | 78 | mixed FTD | FTLD-TDP-A | 19 |
| 16 | GRN | c.328C > T:p.Arg110* | F | 66 | bvFTD | FTLD-TDP-A | 17.1 |
| 17 | GRN | c.708 + 1G > A | F | 64 | CBS | FTLD-TDP-A | 10.5 |
| 18 | GRN | c.1256_1263dup:p.Ile422Glufs*72 | M | 72 | AD-type dementia | AD, FTLD-TDP-A | 7.2 |
| 19 | TDP-A | n/a | F | 78 | nfvPPA | FTLD-TDP-A | 9 |
| 20 | TDP-A | n/a | F | 66 | CBS | FTLD-TDP-A | 17.3 |
| 21 | TDP-A | n/a† | M | 72 | PPA-mixed | FTLD-TDP-A | 23.8 |
| 22 | TDP-A | n/a | M | 63 | CBS | FTLD-TDP-A | 15.7 |
| 23 | TDP-A | n/a | M | 70 | bvFTD | FTLD-TDP-A | 8.5 |
| 24 | TDP-A | n/a | F | 73 | bvFTD | FTLD-TDP-A | 7.4 |
| 25 | TDP-A | n/a | F | 78 | AD-type dementia vs. FTD | FTLD-TDP-A | 8.1 |
| 26 | TDP-C | n/a | F | 69 | svPPA | FTLD-TDP-C | 10.7 |
| 27 | TDP-C | n/a | M | 66 | svPPA | FTLD-TDP-C | 10 |
| 28 | TDP-C | n/a | F | 68 | svPPA | FTLD-TDP-C | 8.4 |
| 29 | TDP-C | n/a | M | 66 | svPPA | FTLD-TDP-C | 14.5 |
| 30 | TDP-C | n/a | M | 75 | svPPA | FTLD-TDP-C | 3.8 |
| 31 | TDP-C | n/a | F | 75 | svPPA | FTLD-TDP-C | 7.9 |
| 32 | TDP-C | n/a | F | 71 | svPPA | FTLD-TDP-C | 13 |
| 33 | Pick's | n/a | M | 64 | CBS | Pick's Disease | 13.7 |
| 34 | Pick's | n/a | F | 78 | nfvPPA | Pick's Disease | 14.5 |
| 35 | Pick's | n/a | F | 67 | AD-type dementia | Pick's Disease | 6.8 |
| 36 | Pick's | n/a | F | 63 | nfvPPA | Pick's Disease | 4.3 |
| 37 | Pick's | n/a | M | 57 | bvFTD | Pick's Disease | 12.4 |
| 38 | Pick's | n/a | F | 73 | nfvPPA | Pick's Disease | 9.6 |
| 39 | Pick's | n/a | M | 78 | svPPA | Pick's Disease | 7.5 |
*All GRN mutations were heterozygous. **Disease considered most likely to explain the clinical syndrome. ***No control subject had limbic TDP-43 proteinopathy. #case 7 was only analyzed for lysosomal storage markers in fixed tissue. †case 21 was negative for pathogenic GRN mutations, but had intronic GRN variants of unknown significance. PMI postmortem interval, AD Alzheimer’s disease, AGD argyrophilic grain disease, bvFTD behavioral variant frontotemporal dementia, CBS corticobasal syndrome, DLB dementia with Lewy bodies, LBD Lewy body disease, MCI mild cognitive impairment, nfvPPA nonfluent variant primary progressive aphasia, svPPA semantic variant primary progressive aphasia