Table 2.
MAPT | Classification | Clinical Presentation | Tau Isoform | Mean AAOa | Mean Disease Durationa | Fibroblasts | Families |
---|---|---|---|---|---|---|---|
A152T | PSP, CBD, FTLD-Tau | bvFTD | 4R | 57.5 | N/A | 8 | N/A |
P301L | FTLD-Tau | bvFTD | 4R | 52.6 | 6.7 | 13 | 3 |
S305I | FTLD-Tau/AGD | bvFTD | 4R | 39 | 2 | 2 | 1 |
IVS10+16 | FTLD-Tau | bvFTD/AD | 4R | 49.1 | 10.3 | 4 | 1 |
V337M | FTLD-Tau | bvFTD | 3R & 4R | 51.5 | 15.4 | 4 | 2 |
G389R | FTLD-Tau | bvFTD | 3R & 4R | 39.8 | 2.5 | 3 | 1 |
R406W | FTLD-Tau | AD | 3R & 4R | 56.3 | 11.5 | 9 | 2 |
R406W/R406W | FTLD-Tau | bvFTD | 3R & 4R | 34 | 7 | 1 | 1 |
WT | PSP | PSP-S | 4R | N/A | N/A | 12 | N/A |
WT | CBD | CBS | 4R | N/A | N/A | 5 | N/A |
WT | PSP/CBD mixed | PSP-S/CBS/mixed | 4R | N/A | N/A | 10 | N/A |
WT | normal | N/A | N/A | N/A | N/A | 69 | N/A |
AAO, age at onset; bvFTD, behavioral variant frontotemporal dementia; AGD, argyrophilic grain disease; AD, Alzheimer's disease; PSP, progressive supranuclear palsy; CBD, cortical basal degeneration; N/A, not available.
Data from the AD/FTD Mutation Database presented in years (Cruts et al., 2012).