Table 2.
Clinical Characteristics of Families with TARDBP Mutations
| Family | ND654 | QBB | |||||
|---|---|---|---|---|---|---|---|
| Individual | II:14 | III:4 | II:1 | II:2 | II:5 | II:7 | III:4 |
| TARDBP | G290A | G290A | ND | G298S | ND | G298S | G298S |
| Age of onset | 47 | 51 | 47 | 60 | 48 | 52 | 41 |
| Age of death | 48 | 52 | 48 | 62 | 49 | 56 | 43 |
| Site of onset | Spinal | Bulbar | ND | Bulbar | ND | Spinal | Spinal |
| Dementia | ND | No | No | No | No | No | No |
| UMN signs | ↑DTRs, Spastic gait | ↑DTRs | ND | ↑DTRs, Spastic dysarthria | ND | No | ↑DTRs |
| LMN signs | Fasciculations, weakness, atrophy | Fasciculations, weakness, atrophy | ND | Fasciculations, weakness, atrophy | ND | Fasciculations, weakness, atrophy | Fasciculations, weakness, atrophy |
| Electrophysiology | ND | Active denervation | ND | Fibrillations, fasciculations, positive sharp waves | ND | Fibrillations, fasciculations, positive sharp waves | Fibrillations, fasciculations, positive sharp waves |
| Labs/imaging | Normal myelogram | Normal MRI brain/spine | Normal CSF, normal MRI brain | Normal MRI brain, normal myelogram | |||
| Genetic testing | SOD1 neg | SOD1 neg | |||||
Clinical characteristics of FALS families with TARDBP mutations.
ND = no data
DTRs = deep tendon reflexes