Table 2.
Clinical characteristics and variants information of patients with pathogenic or likely pathogenic mutations.
| Genes | Base change | Protein change | No. of cases | Reported and references | Gender | AAO (ys) | APOE genotype | Family history | Clinical phenotypes | Clinical diagnosis | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Memory decline | Language impairment | Mental and behavior change | Sensory and movement disorders | ||||||||||
| PSEN1 | c.250A>G | p.M84V | 1 | Y63 | M | 53 | 3/4 | + | + | + | + | + | AD |
| c.415A>G | p.M139V | 1 | Y64 | M | 53 | 2/3 | + | + | + | + | − | AD | |
| c.415A>T | p.M139L | 1 | Y65 | F | 38 | 4/4 | + | + | − | − | + | AD | |
| c.424G>A | p.V142I | 2 | Y66 | M/M | 54/52 | 3/3 | +/+ | +/+ | +/− | −/+ | −/− | AD | |
| c.436A>G | p.M146V | 1 | Y64 | M | 42 | 3/4 | + | + | + | + | − | AD | |
| c.451G>A | p.V151M | 1 | N | M | 49 | 3/4 | + | + | + | + | − | AD | |
| c.519G>T | p.L173F | 1 | Y67 | F | 37 | 3/4 | + | + | − | + | − | AD | |
| c.604A>T | p.I202F | 1 | Y68 | F | 46 | 3/4 | + | + | + | − | − | AD | |
| c.617G>A | p.G206D | 1 | Y69 | M | 38 | 3/3 | + | + | − | + | − | AD | |
| c.677T>G | p.L226R | 1 | Y70 | M | 44 | 3/4 | + | + | − | + | − | AD | |
| c.679A>C | p.I227L | 1 | N | M | 44 | 3/4 | − | + | − | − | − | AD | |
| c.697A>G | p.M233V | 1 | Y71 | M | 30 | 3/3 | + | + | − | − | + | AD | |
| c.791C>T | p. P264L | 2 | Y72 | M/F | 51/52 | 3/4 | +/− | +/+ | +/+ | +/− | +/− | AD | |
| c.806G>A | p.R269H | 2 | Y73 | M/F | 45/60 | 3/4 | +/+ | +/+ | +/− | −/− | −/− | AD | |
| c.845T>G | p.L282R | 1 | Y74 | F | 52 | 3/3 | + | + | + | − | + | AD | |
| c.854C>T | p.A285V | 1 | Y75 | F | 46 | 3/3 | + | + | + | − | − | AD | |
| c.1139A>G | p.K380R | 1 | N | F | 49 | 3/4 | + | + | − | − | − | AD | |
| c.1174C>G | p.L392V | 1 | Y76 | F | 46 | 3/3 | + | + | − | + | − | AD | |
| c.1369A>G | p.M457V | 1 | N | M | 66 | 3/4 | + | + | − | + | − | AD | |
| PSEN2 | c.715A>G | p.M239V | 4 | Y77 | M/M/F/F | 47/60/53/45 |
50% 3/3 50% 3/4 |
+/+/+/+ | +/+/+/+ | −/−/+/− | −/+/+/+ | −/−/−/+ | AD |
| c.716T>C | p.M239T | 1 | N | F | 50 | 3/4 | − | + | − | − | − | AD | |
| c.717G>A | p.M239I | 1 | Y32 | F | 50 | 3/4 | + | + | − | + | − | AD | |
| c.1180delG | p.A394Pfs*8 | 1 | N | F | 68 | 3/3 | + | + | − | + | − | AD | |
| APP | c.2143G>A | p.V715M | 1 | Y78 | F | 51 | 3/3 | + | + | − | + | − | AD |
| c.2149G>A | p.V717I | 3 | Y79 | F/F/M | 47/49/42 | 66.7% 3/3; 33.3% 3/4 | +/+/+ | +/+/+ | +/+/+ | −/+/+ | −/−/− | AD | |
| MAPT | c.1788T>G | p.N596K | 1 | Y80 | F | 42 | 3/3 | − | + | − | − | + | FTD |
| c.1907C>T | p.P636L | 1 | Y81 | M | 58 | 3/3 | − | + | + | + | − | FTD | |
| GRN | c.20G>A | p.W7* | 1 | N | F | 73 | 3/4 | + | + | − | + | − | FTD |
| c.328C>T | p.R110* | 1 | Y82 | F | 61 | 3/3 | − | + | + | + | − | FTD | |
| CHCHD10 | c.283C>T | p.Q95* | 1 | N | F | 52 | 3/4 | + | + | + | + | + | AD |
| c.121C>T | p.Q41* | 1 | N | F | 56 | 3/4 | − | + | − | + | − | FTD | |
| HTRA1 | c.589C>T | p.R197* | 1 | Y83 | F | 49 | 3/3 | − | + | − | + | − | AD |
| OPTN | c.1402_1407del | p.468_469del | 1 | N | F | 63 | 3/3 | − | + | + | − | − | FTD |
| SQSTM1 | c.558_559insC | p.V287Rfs*21 | 1 | N | F | 71 | 3/3 | − | + | + | − | − | FTD |
| VCP | c.475C>T | p.R159C | 1 | Y84 | M | 51 | 3/3 | − | + | − | + | − | FTD |
| SIGMAR1 | c.26G>A | p.W9* | 1 | N | F | 74 | 3/3 | − | + | − | + | − | FTD |
| TBK1 | c.973dup | p.Y325Lfs*4 | 1 | N | M | 61 | 3/3 | − | + | + | + | − | FTD |
| C9orf72 | Hexanucleotide expansion | − | 1 | Y | F | 57 | 3/4 | + | + | + | − | + | FTD |
| HTT | CAG repeat expansion | – | 1 | Y | F | 43 | 3/3 | + | + | + | − | + | HD |
Y mutations have been reported previously, N mutations have not been reported previously.