TABLE 1.
Genotypes and characteristics of Chinese SALS patients with TARDBP missense mutations in references and our cohort
| Nucleotide change | Amino acid change | Gender | AOO (years) | SOO | FTD | Duration (months) | Reference | |
|---|---|---|---|---|---|---|---|---|
| 1 patient | c.1133A > G | p.N378S | M | 39 | UL | No | >67 | (Huang et al., 2012) |
| 3 patients | c.875G > A | p.S292N | M | 59 | UL | No | 38 | (Zou et al., 2016) |
| c.875G > A | p.S292N | M | 52 | B | No | 35 | ||
| c.1043G > T | p.G348V | F | 36 | UL | No | >54 | ||
| 1 patient | c.1178C > T | p.S393L | M | 58 | UL | Yes | 84 | (Ju et al., 2016) |
| 1 patient | c.1069G > A | p.G357S | M | 65 | UL | — | >24 | (Liu et al., 2019) |
| 3 patients | c.892G > A | p.G298S | — | — | — | No | — | (Chen et al., 2020) |
| c.1123G > A | p.S375G | |||||||
| c.1112A > G | p.N371S | |||||||
| 4 patients | c.881G > T | p.G294V | M | 61 | B+UL | No | 6 | (Wang et al., 2020) |
| c.881G > T | p.G294V | M | 53 | B | No | >18 | ||
| c.1043G > T | p.G348V | M | 24 | UL | No | >120 | ||
| c.1147A > G | p.I383V | F | 45 | UL | No | 36 | ||
| Patient 1 | c.1132A > G | p.N378D | F | 39 | UL | No | >24 | This study |
| Patient 2 | c.1147A > G | p.I383V | F | 53 | B | No | 23 | This study |
| Patient 3 | c.1147A > G | p.I383V | M | 57 | LL | Yes | >61 | This study |
Abbreviations: — = absent; AOO = age of onset; B = bulbar; FTD = frontotemporal dementia; LL = lower limb; SOO = site of onset; UL = upper limb.