Summary of clinical data from 72 families and the 21 sporadic cases with C9ORF72 repeat expansions
| Familial ALS | Sporadic ALS | |
|---|---|---|
| Male | 51.5% (n=137) | 47.6% (n=10) |
| Female | 48.5% (n=129) | 52.4% (n=11) |
| Age at onset | ||
| Mean | 57.6±10.4 years | 60.0±7.5 years |
| Median | 57 years | 59 years |
| Range | 20–86 years | 46–75 years |
| Duration of disease | ||
| Mean | 2.8±2.5 years | 2.1±0.9 years |
| Median | 2 years | 2 years |
| Range | 0.5–16 years | 1–4 years |
| Site of onset* | ||
| Bulbar | 45.0% (n=58) | 38.1% (n=8) |
| Spinal | 55.0% (n=71) | 61.9% (n=13) |
| Other clinical features | ||
| ALS-dementia | 6.0% | 0% |
| Psychosis | 0.8% | 0% |
| Depression | 1.1% | 0% |
| Suicide | 0.4% | 0% |
| Bipolar | 0.4% | 0% |
*Site of onset percentages are based on 150 individuals for whom data were available.
ALS, amyotrophic lateral sclerosis.