Table 2.
Neuropathological, genetic, clinical, and demographic details for misclassified cases.
| Case | Neuropathological Diagnosis / Genetic Mutation | Clinical Phenotype | Demographic Features1 |
|---|---|---|---|
| White matter analysis misclassified case(s): | |||
| WM.1 | FTLD-TDP; intermediate tangles (Braak Stage III-IV) | bvFTD | MMSE=18 |
| Grey matter analysis misclassified case(s): | |||
| GM.1 | Tauopathy NOS; MAPT (p.G389R) | bvFTD | MMSE=0 |
| GM.2 | MAPT pathogenic mutation (E10+16C>T) | PNFA | |
| GM.3 | PSP | PSP | |
| GM.4 | PSP | CBS | |
| GM.5 | C9orf72 expansion | PNFA | |
| GM.6 | C9orf72 expansion | bvFTD | Disease Duration=8 yrs. |
| GM.7 | C9orf72 expansion | bvFTD | Disease Duration=7 yrs. |
| GM.8 | C9orf72 expansion | bvFTD/ALS | |
| GM.9 | GRN (p.V279GfsX5) | CBS | Education=6 yrs. |
| GM.10 | GRN (p.Thr272SerfsX10) | CBS | MMSE=12 |
| GM.11 | GRN (p.V90SfsX67) | CBS | |
| GM.12 | FTLD with TDP-43 inclusions; GRN (p.R418X) | PNFA | |
| GM.13 | FTLD with TDP-43 inclusions 114753 | bvFTD | |
Note. Case numbers (e.g., WM.1) provide an arbitrary label for each misclassified case.
1
Only includes demographic features that differ more than 2.5 standard deviations from means reported in Table 1.