Table 4.
Subjects with multiple variants in ALS genes
| Patient Type | Variant 1 | Variant 2 | Variant 3 | Possible model |
|---|---|---|---|---|
| Sporadic | SOD1(p.D91A) | SOD1(p.D91A) | - | Homozygous recessive |
| Sporadic | SETX(p.I2547T) | SETX(p.I2547T) | - | Homozygous recessive |
| Sporadic | SETX(p.C1554G) | SETX(p.R168Q) | - | Potential compound het |
| Familial | SOD1(p.A5V) | DAO(p.S345F) | - | Oligogenic |
| Familial | SOD1(p.P67A) | SETX(p.I2547T) | - | Oligogenic |
| Familial | C9ORF72 | DCTN1(p.I196V) | - | Oligogenic |
| Familial | C9ORF72 | SQSTM1(p.V153I) | - | Oligogenic |
| Familial | C9ORF72 | SETX(p.I2547T) | - | Oligogenic |
| Sporadic | ANG(p.K41I) | VAPB(p.M170I) | - | Oligogenic |
| Sporadic | ATXN2(22/31) | SQSTM1(p.K238E) | - | Oligogenic |
| Sporadic | FUS(p.R485W) | SETX(p.I2547T) | - | Oligogenic |
| Sporadic | DCTN1(p.R1049Q) | SETX(p.S323N) | - | Oligogenic |
| Sporadic | FUS(p.P525L) | ATXN2(23/31) | - | Oligogenic |
| Sporadic | TARDBP(p.G287S) | VAPB(p.M170I) | - | Oligogenic |
| Familial | SOD1(p.G38R) | ANG(p.P136L) | DCTN1(p.T1249I) | Oligogenic |
| Sporadic | ATXN2(22/32) | DCTN1(p.T1249I) | SETX(p.M274V) | Oligogenic |
| Sporadic | TAF15(p.R408C) | SETX(p.I2547T) | SETX(p.T14I) | Oligogenic, potential compound het |
| Sporadic | SETX(p.C1554G) | DCTN1(p.H1270Q) | FIG4(p.M694V) | Oligogenic |