Table 1.
Patient/proband characteristics.
| Genotype | Sex | Age at Biopsy (Years) | Mutation | Family History | Age of Disease Onset | ALS Type | Clinical Characteristics | Disease Duration (Months) | Clones | DIV |
|---|---|---|---|---|---|---|---|---|---|---|
| Controls | ||||||||||
| Female | 53 | - | - | - | - | - | 1 | 30 | ||
| Male | 60 | - | - | - | - | - | 1 | 30 | ||
| Female | 45 | - | - | - | - | - | 1 | 30 | ||
| TDP43-ALS | ||||||||||
| Female | 85 | p.S393L | Pos. for ALS | 85 | Bulbar | Progressive anarthria, LMND, no clinical symptoms of FTD | 48 | 1 | 30 | |
| Male | 46 | p.G294V | neg for ALS | 37 | Spinal | Early onset ALS (37 years), monomelic right leg amyotrophy, no clinical symptoms of FTD | >120 (alive) | 2 | 30 | |
| SOD1-ALS | ||||||||||
| Male | 59 | p.R115G | Pos. for ALS (Mother and Brother) | n.d | Spinal | n.d | n.d | 1 | 30 | |
| Female | 46 | p.D90A | Pos. for ALS (Brother) | 41 | Spinal | Slowly progressive classical spinal ALS, no cognitive impairment | 204 | 1 | 30 |
n.d: no data; LMND: lower motor neuron disease; DIV: days in vitro.