Table 2

Neuropathological, genetic, clinical and demographic details for misclassified cases

CaseNeuropathological diagnosis/genetic mutationClinical phenotypeDemographic features*
White matter analysis misclassified case(s)
 WM.1FTLD-TDP; intermediate tangles (Braak Stage III-IV)bvFTDMMSE=18
Grey matter analysis misclassified case(s)
 GM.1Tauopathy NOS; MAPT (p.G389R)bvFTDMMSE=0
 GM.2MAPT pathogenic mutation (E10+16C>T)PNFA
 GM.3PSPPSP
 GM.4PSPCBS
 GM.5C9orf72 expansionPNFA
 GM.6C9orf72 expansionbvFTDDisease duration=8 years
 GM.7C9orf72 expansionbvFTDDisease duration=7 years
 GM.8C9orf72 expansionbvFTD/ALS
 GM.9GRN (p.V279GfsX5)CBSEducation=6 years
 GM.10GRN (p.Thr272SerfsX10)CBSMMSE=12
 GM.11GRN (p.V90SfsX67)CBS
 GM.12FTLD with TDP-43 inclusions; GRN (p.R418X)PNFA
 GM.13FTLD with TDP-43 inclusions 114753bvFTD
  • Case numbers (eg, WM.1) provide an arbitrary label for each misclassified case.

  • *Only includes demographic features that differ more than 2.5 SD from means reported in table 1.

  • bvFTD, behavioural-variant frontotemporal dementia; FTLD, frontotemporal lobar degeneration; GM, grey matter; MMSE, Mini Mental State Examination; PSP, progressive supranuclear palsy; WM, white matter.