Table 1.
Mutation | Sex | Age of onset | Site of onset | Phenotype | Region of involvement | Dementia | Duration (mo) | Family history | |
---|---|---|---|---|---|---|---|---|---|
Patient One | p.G505Wfs*12 | Male | 14 | Bulbar and Lower limbs | UMN and LMN | Four | Mental retardation | ≈11 | SALS |
Patient Two | p.R495X | Male | 17 | Bulbar | LMN | Four | No | ≈21 | FALS |
Patient Three | p.R495X | Female | 46 | Upper limbs | LMN | Four | No | ≈12 | FALS |
Disease duration was defined as the time from onset of the disease to death. ALS – amyotrophic lateral sclerosis; FALS – familial amyotrophic lateral sclerosis; SALS – sporadic amyotrophic lateral sclerosis; LMN – lower motor neuron; UMN – upper motor neuron.