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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

X-linked

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