Table 1. Summary of clinical features of ALS patients with FIG4 mutations.
| Exon | Nucleoid change | Amino acid change | Population | Sex | AAO (yr) | SOO | Phenotype | Disease duration (yr) | Familial history | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 2 | c.67-1G>T | p.R23fs*30 | Caucasian | Male | 77 | UL | ALS | 1.3 | Yes | Chow et al.2 |
| 2 | c.122T>C | p.I41T | Italian | Female | 43 | Spinal | PLS | >12.25 (alive) | No | Osmanovic et al.3 |
| 2 | c.143A>G | p.D48G | Caucasian | Female | 29 | LL | PLS | NA | No | Chow et al.2 |
| 2 | c.157G>T | p.D53Y | Caucasian | Female | 56 | Bulbar | ALS | 2.6 | Yes | Chow et al.2 |
| 6 | c.547C>T | p.R183X | Caucasian | Male | 62 | Bulbar | ALS | 8.9 | No | Chow et al.2 |
| 6 | c.590G>A | p.R197H | Caucasian | Male | 60 | Cognition | ALS, bvFTD | >1 (alive) | No | Dols-Icardo et al.14 |
| 7 | c.646G>A | p.G216R | Caucasian | NA | NA | Spinal | PMA, sensory neuropathy | NA | No | Pensato et al.18 |
| 7 | c.759delG | p.F254Sfs*8 | German | Male | 40 | Spinal | ALS | >2.67 (alive) | Yes | Osmanovic et al.3 |
| 9 | c.919G>A | p.D307N | German | Male | 78 | Bulbar | UMN-ALS, MSAN | >5.25 (alive) | No | Osmanovic et al.3 |
| 9 | NA | p.I345Yfs*17‡ | Italian | Female | 65 | Bulbar | ALS | 3 | Yes | Lamp et al.15 |
| 10 | NA | p.H360Y† | Italian | Male | 81 | Bulbar | ALS, dementia | 3 | No | Lamp et al.15 |
| 11 | c.1162A>G | p.R388G | Caucasian | Male | 42 | LL | PLS | >29 (alive) | No | Chow et al.2 |
| 11 | c.1207C>T | p.Q403X | Caucasian | Female | 60 | Bulbar | ALS | 25 | No | Chow et al.2 |
| 11 | c.1243C>G | p.P415A | Caucasian | Female | 29 | Spinal | UMN-ALS | >10 (alive) | No | Pensato et al.18 |
| 12 | c.1386+5G>T | p.S424_K462 del insR | Caucasian | Female | 57 | UL | ALS | >2 (alive) | No | Chow et al.2 |
| 15 | c.1619C>T | p.T540I | German | Female | 72 | Bulbar | PLS | >3.25 (alive) | No | Osmanovic et al.3 |
| 15 2 |
c.1667C>T c.122T>C |
p.T556I p.I41T |
Caucasian | Female | 25 | LL | ALS, mental retardation | 1.5 | NA | Bertolin et al.13 |
| 17 | c.1940A>G | p.Y647C | Caucasian | Female | 65 | Bulbar | ALS | >2 (alive) | No | Chow et al.2 |
| 17 | c.1940A>G | p.Y647C | German | Male | 66 | Spinal | FAS, MSAN | 5.25§ | No | Osmanovic et al.3 |
| 19 | c.2158G>T | p.E720X | Chinese | Male | 62 | LL | LMN-ALS | 11.5 | No | This study |
| 23 | c.2558C>T | p.S853L | German | Female | 48 | Spinal | ALS, mild MSAN | 0.92 | No | Osmanovic et al.3 |
| 23 | c.2705T>C | p.I902T | Caucasian | Male | 55 | Bulbar | ALS | 1.7 | Yes | Chow et al.2 |
†Co-occurrence of SETX p.L158V variant; ‡Co-occurrence of C9orf72 repeat expansions, §Died of traumatic subdural hemorrhage.
AAO, age at onset; ALS, amyotrophic lateral sclerosis; bvFTD, behavioral variant frontotemporal dementia; FAS, flail arm syndrome; LL, lower limb; LMN-ALS, lower-motor-neuron-predominant ALS; MSAN, motor-sensory axonal neuropathy; NA, not available; PLS, primary lateral sclerosis; PMA, primary muscular atrophy; SOO, site of onset; UL, upper limb; UMN-ALS, upper-motor-neuron-predominant ALS.