Table 3 Clinical characteristics of the hotspot mutations in TARDBP
Characteristics | G298S | M337V | A382T | G287S | G294V | G295S | G348C | I383V | N352S |
|---|---|---|---|---|---|---|---|---|---|
Birth placea | East Asia | Admixed | Europe and America | Europe and America | Italy | Italy | Admixed | Admixed | Admixed |
Family Historyb (Y/N) | 10/10 | 1/15 | 78/95 | 0/9 | 8/8 | 4/10 | 5/4 | 6/2 | 11/4 |
Gender (M/F)c | 13/9 | 28/30 | 122/60 | 2/0 | 9/6 | 2/1 | 9/6 | 1/2 | 1/8 |
Age at onset | 51.3 (8.3) | 51.7 | 52.7 | 67.5 | 61.1 | 60.0 | 49.9 | 58.3 | 57.1 |
(mean years, SD) | Â | (7.1) | (12.9) | (3.5) | (11.2) | (5.3) | (11.3) | (11.4) | (12.7) |
Onset site | L:15; B:6 | L:22; B:37 | L:141; B:36 | L:1; B:1 | L:7; B:8 | L:3; B:0 | L:13; B:2 | L:1; L + B:2 | L:7; B:0 |
Disease duration (mean months) | 19.3 | 75.9 | 57.3 | 57.5 | 19.1 | 32.0 | 49.1 | 36.0 | 63.1 |
Cognitive impairment | No | Yes | Yes | No | Yes | Yes | No | Yes | No |