Table 2.
Clinical characteristics of patients from families with PFN1 mutations
| Family | Mutation | Sex | Age at onset (y) |
Disease duration (mo) |
Disease onset |
UMN signs | LMN signs | Dementia |
|---|---|---|---|---|---|---|---|---|
| 1 (US patient) | PFN1p.Gln117Gly | M | 54 | NA | spinal | NA | NA | – |
| 2 (German patients) | PFN1p.Thr109Met | F | 48 | >336a | spinal | + | + | – |
| PFN1p.Thr109Met | F | 70 | >144a | spinal | NA | NA | – | |
| No DNA available for genetic testing | F | 55 | 24 | bulbar | NA | NA | – | |
Key: +, present; –, absent; LMN, lower motor neuron; NA, not applicable (unknown); UMN, upper motor neuron.
a
Patient is still alive.