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. 2019 Oct 17;13(5):939–955. doi: 10.1016/j.stemcr.2019.09.006

Table 2.

Dermal Fibroblast Bank to Model Primary Tauopathies

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.

a

Data from the AD/FTD Mutation Database presented in years (Cruts et al., 2012).