TABLE 3.
Clinical features of ALS patients with p.I383V mutation in TARDBP
| Gender | AOO (years) | SOO | FTD | Duration (months) | Family history | Ethnicity | Reference | |
|---|---|---|---|---|---|---|---|---|
| 1 patient | F | 59 | UL | No | — | Yes | Caucasian | (Rutherford et al., 2008) |
| 3 patients | M | 66 | B | No | 42 | Yes | Caucasian | (Ticozzi et al., 2011) |
| M | 25 | LL | No | — | Yes | Caucasian | ||
| F | 57 | UL | No | 50 | Yes | Caucasian | ||
| 2 patients | F | 59 | LL | No | >103 | No | Dutch | (van Blitterswijk et al., 2012) |
| M | 46 | LL | No | 64 | Yes | Dutch | ||
| 1 patient | — | — | — | No | — | No | Italian | (Lattante et al., 2012) |
| 1 patient | — | — | — | Yesa | — | Yes | Chinese | (Soong et al., 2014) |
| 1 patient | M | 65 | S | Yesb | 36 | Yes | French | (Caroppo et al., 2016) |
| 2 patients | F | 38 | LL | No | >24 | Yes | Chinese | (Cheng et al., 2016) |
| F | 62 | B | Yesc | >60 | Yes | Chinese | ||
| 1 patient | M | 52 | S | Nod | >36 | Yes | Spanish | (González‐Sánchez et al., 2018) |
| 1 patient | F | 45 | UL | No | 36 | No | Chinese | (Wang et al., 2020) |
| Patient 2 | F | 53 | B | No | 23 | No | Chinese | This study |
| Patient 3 | M | 57 | LL | Yes | >61 | No | Chinese | This study |
a
No detailed description of FTD.
b
Onset of behavioral variant of FTD (bvFTD) at age 65 then ALS at age 67.
c
She presented bvFTD 2.5 years later.
d
His older sister with p.I383V mutation showed semantic variant primary progressive aphasia (svPPA).
Abbreviations: — = absent; AOO = age of onset; B = bulbar; FTD = frontotemporal dementia; LL = lower limb; S = spinal; SOO = site of onset; UL = upper limb.