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Table 1 FTD-genes analysed in this study

From: Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

  Genes Type of variant Clinical phenotype Pathology Type of association Ref
Pure FTD-genes MAPT exonic/intronic point mutations bvFTD; FTD-17 FTLD-Tau mendelian 3, 11
small/large indels
missense
GRN non-sense bvFTD; PNFA FTLD-TDP 3, 11
missense
frame-shift
large deletions
CHMP2B non-sense FTD3 FTLD-UPS 3, 11
missense
RAB38 unknown bvFTD unknown from GWAS 16
CTSC unknown bvFTD unknown
BTNL2 unknown bvFTD; PNFA; SD unknown
HLA-DRA unknown bvFTD; PNFA; SD unknown
HLA-DRB5 unknown bvFTD; PNFA; SD unknown
TMEM106B unknown FTD FTLD-TDP 14
Spectrum FTD-genes C9orf72 expansion ALS; ALS-FTD FTLD-TDP mendelian 12, 13
VCP missense IBMPFD; ALS; FTD FTLD-TDP 3, 11, 12
SQSTM1 non-sense PBD; ALS; FTD FTLD-TDP 3, 11, 12
missense
UBQLN2 non-sense MS; ALS; FTD FTLD-TDP
missense
OPTN non-sense PDB; ALS-FTD FTLD-TDP
missense
TDP-43 missense ALS; ALS-FTD FTLD-TDP
FUS missense ALS; ALS-FTD FTLD-FUS
frame-shift
indel
  1. The FTD-genes used in our analysis were divided into two groups: the pure and the spectrum genes. For each gene, the associated genetic variability, as well as the associated clinical and pathological features are summarized
  2. bvFTD behavioural variant FTD, FTD-17 frontotemporal dementia linked to chromosome 17, PNFA progressive non-fluent aphasia, FTD3 frontotemporal dementia linked to chromosome 3, SD semantic dementia, ALS amyotrophic lateral sclerosis, IBMPFD Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, PBD Paget’s disease of bone, MS multiple sclerosis