Table 1. List of Seeds Used for Building the FTD-PN and Associated Features.
gene name | frequency (Mendelian%) | pathology | inclusion in PPI network |
---|---|---|---|
C9orf72a | common (7–20%) | FTLD-TDP | YES |
GRN | common (5–11%) | FTLD-TDP | YES |
MAPT | common (2–11%) | FTLD-Tau | YES |
ATXN2a | rare (<1%) | SNCA, polyGIn | YES |
CHCHD10a | rare (<1%) | FTLD-TDP | NO |
CHMP2B | rare (<1%) | FTLD-UPS | YES |
DCTN1a | rare (<1%) | not understood; possibly FTLD-TDP | YES |
FUSa | rare (<1%) | FTLD-FUS | YES |
IFT74a | rare (<1%) | not known; possibly FTLD-TDP | NO |
OPTNa | rare (<1%) | FTLD-TDP | YES |
SQSTM1a | rare (<1%) | FTLD-TDP | YES |
TARDBPa | rare (<1%) | FTLD-TDP | YES |
UBQLN2a | rare (<1%) | FTLD-TDP | YES |
VCP | rare (<1%) | FTLD-TDP | YES |
BTNL2 | GWAS | not known | NO |
CTSC | GWAS | not known | NO |
HLA-DRA | GWAS | not known | YES |
HLA-DRB5 | GWAS | not known | NO |
RAB38 | GWAS | not known | NO |
TMEM106B | GWAS | FTLD-TDP | NO |
Genes belonging to the FTD-ALS spectrum; ALS = amyotrophic lateral sclerosis.