Table 1

Mutations identified in those with familial amyotrophic lateral sclerosis (ALS)

GeneVariantCases (n)
C9orf72 Expansion mutation34
DAO p.R199W1
FUS p.R521H2
p.R514G1
SOD1 p.C112Y1
p.D91A1
p.L107F1
p.D102N1
p.D102G1
p.I114T2
p.D77Y2
SQSTM1 p.K238E2
TARDBP p.N378D2
p.A90V1
p.M337V1
p.G348V1
p.Y374X1
UBQLN2 p.P497H1
No mutation identified44
Total100
  • 95 of the 100 familial ALS cases were tested for the C9orf72 expansion mutation.