Table 1.
Clinical characteristics and TARDBP mutations in the Finnish ALS patients.
| Number of patients |
Mean age at onset of symptoms, yrs |
Mean age at diagnosis, yrs |
Mean disease duration, yrs as |
Mean disease duration, deceased, yrs |
Upper motor neuron signs, probableb / definitec |
|
|---|---|---|---|---|---|---|
| All patients | 50 | 62.4 | 64.4 | 3.3 | 2.5 | 9 / 41 |
| Male | 24 | 61.7 | 65.1 | 3.6 | 2.9 | 6 / 18 |
| Female | 26 | 62.0 | 63.6 | 3.1 | 2.7 | 3 / 23 |
| FALS | 6 | 60.5 | 62.2 | 4.5 | 3.0 | 0 / 6 |
| SALS | 44 | 62.4 | 64.7 | 64.7 | 2.5 | 9 / 35 |
| Spinal onset | 37 | 60.3 | 62.3 | 3.5 | 2.6 | 8 / 29 |
| Bulbar onset | 13 | 68.3 | 70.1 | 2.9 | 2.4 | 1 / 12 |
| Identified variants in TARDB | ||||||
| c.163C > A R55R | 1 | |||||
| c.715-75_715-74insT | 2 | |||||
| c.714+68_714+69insG | 46 | |||||
| c.715-126delG | 42 | |||||
a
From the onset of symptoms to exitus/ last follow-up;
b
Probable upper motor neuron signs: disproportionately active reflexes in weak and atrophic muscles;
c
Definite upper motor neuron signs: Hoffmann sign, Babinski sign, pathologic muscle stretch reflexes or spasticity.