Skip to main content

Table 1 Genetic characteristics of familial and sporadic ALS

From: Environmental insults: critical triggers for amyotrophic lateral sclerosis

  Familial ALS Sporadic ALS
Proportion 10% 90%
Disease category Monogenic Complex
Inheritance Autosomal dominant (most common) Recessive
Gene-environment interactions
Gene-gene interactions
Autosomal recessive variants
De novo variants
Common genes (% mutations) C9orf72 repeat expansions (24%)
SOD1 (20%)
TARDBP (1–5%)
FUS (1–5%)
Other genes (rare or unknown)
C9orf72 repeat expansions (5–10%)
SOD1 (1–3%)
Other genes (rare or unknown)
  1. Abbreviations: C9orf72 chromosome 9 open reading frame 72 gene, SOD1 superoxide dismutase 1 gene, TARDBP TAR DNA binding protein gene or TDP-43, FUS fused in sarcoma gene