TABLE 1.
The clinical summarization of ALS patients with mutation at 525 proline residue
| Literature | Case | Sex | Age onset (year) | Survival (m) | De novo | Onset site | Bulbar | Limb | UMN | Other symptoms | Mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Kwiatkowski et al. (2009) | 1 | UA | 22 | 6 | UA | UA | UA | UA | UA | UA | p.P525L |
| Kwiatkowski et al. (2009) | 2 | UA | 44 | UA | UA | UA | UA | UA | UA | UA | p.P525L |
| Kwiatkowski et al. (2009) | 3 | UA | 15 | UA | UA | UA | UA | UA | UA | UA | p.P525L |
| Chiò et al. (2009) | 4 | F | 21 | 12 | No | Bulbar | Yes | Yes | Yes | No | p.P525L |
| Bäumer et al. (2010) | 5 | F | 22 | 10 | Yes | LE | No | Yes | No | No | p.P525L |
| Bäumer et al. (2010) | 6 | F | 18 | 11 | Yes | UE | Yes | Yes | Yes | No | p.P525L |
| Huang et al. (2010) | 7 | F | 13 | 17 | Yes | LE | No | Yes | No | Developmental delay, learning difficulty | p.P525L |
| Ito et al. (2011) | 8 | M | 13 | 24 | No | LE | UA | Yes | UA | No | p.P525L |
| Fecto and Siddique (2011) | 9 | UA | 11 | UA | No | UA | UA | UA | UA | No | p.P525L |
| Mochizuki et al. (2012) | 10 | F | 13 | 15 | No | limb | Yes | Yes | UA | Developmental delay | p.P525L |
| Sproviero et al. (2012) | 11 | M | 26 | 13 | Yes | Limb | Yes | Yes | No | No | p.P525L |
| Sproviero et al. (2012) | 12 | F | 45 | 42 | Yes | Limb | Yes | Yes | Yes | Multiple sclerosis | p.P525L |
| Zou et al. (2013) | 14 | F | 19 | UA | Yes | Limb | Yes | Yes | Yes | No | p.P525L |
| Conte et al. (2012) | 13 | F | 11 | 14 | Yes | Limb | No | Yes | Yes | No | p.P525L |
| Hübers et al. (2015) | 15 | F | 18 | UA | Yes | Bulbar | Yes | UA | UA | No | p.P525L |
| Hübers et al. (2015) | 16 | M | 20 | UA | Yes | Bulbar | Yes | UA | UA | No | p.P525L |
| Hübers et al. (2015) | 17 | M | 24 | 7 | Yes | Bulbar | Yes | UA | UA | No | p.P525L |
| King et al. (2015) | 18 | F | 23 | 8 | No | UA | No | Yes | Yes | No | p.P525L |
| Leblond et al. (2016) | 19 | F | 21 | 6 | Yes | Bulbar | Yes | Yes | Yes | Ophthalmoplegia | p.P525L |
| Kuang et al. (2017) | 20 | F | 26 | 12 | No | UE | Yes | Yes | Yes | No | p.P525R |
| Eura et al. (2019) | 21 | F | 19 | 6 | Yes | Bulbar | Yes | Yes | Yes | Autism, tremor | p.P525L |
| Deng et al. (2019) | 22 | F | 16 | UA | No | Spinal | Yes | UA | UA | UA | p.P525L |
| Deng et al. (2019) | 23 | M | 19 | UA | No | Bulbar | Yes | UA | UA | UA | p.P525L |
| Deng et al. (2019) | 24 | M | 22 | UA | No | Spinal | Yes | UA | UA | UA | p.P525L |
| Naumann et al. (2020) | 25 | F | 22 | UA | UA | Arms | UA | Yes | UA | No | p.P525L |
| Naumann et al. (2020) | 26 | F | 17 | 24 | UA | Bulbar | Yes | UA | UA | No | p.P525L |
| Naumann et al. (2020) | 27 | M | 17 | 15 | UA | Legs | No | Yes | UA | No | p.P525L |
| This study | 28 | M | 19 | 7 | Yes | Limb | No | Yes | Yes | Ophthalmoplegia, tremor, developmental delay, learning difficulty, adventitious movements | p.P525L |
| This study | 29 | M | 34 | 13 | Yes | Bulbar | Yes | Yes | Yes | adventitious movements | p.P525L |
Abbreviations: F: female; LE: lower limb; M: male; UA: unavailable; UE: upper limb; UMN: upper motor neuron.