Table 1

Summary of clinical data from 72 families and the 21 sporadic cases with C9ORF72 repeat expansions

Familial ALSSporadic ALS
Male51.5% (n=137)47.6% (n=10)
Female48.5% (n=129)52.4% (n=11)
Age at onset
 Mean57.6±10.4 years60.0±7.5 years
 Median57 years59 years
 Range20–86 years46–75 years
Duration of disease
 Mean2.8±2.5 years2.1±0.9 years
 Median2 years2 years
 Range0.5–16 years1–4 years
Site of onset*
 Bulbar45.0% (n=58)38.1% (n=8)
 Spinal55.0% (n=71)61.9% (n=13)
Other clinical features
  • *Site of onset percentages are based on 150 individuals for whom data were available.

  • ALS, amyotrophic lateral sclerosis.