Table 1.

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

Gene	Variant	Cases (n)
C9orf72	Expansion mutation	34
DAO	p.R199W	1
FUS	p.R521H	2
	p.R514G	1
SOD1	p.C112Y	1
	p.D91A	1
	p.L107F	1
	p.D102N	1
	p.D102G	1
	p.I114T	2
	p.D77Y	2
SQSTM1	p.K238E	2
TARDBP	p.N378D	2
	p.A90V	1
	p.M337V	1
	p.G348V	1
	p.Y374X	1
UBQLN2	p.P497H	1
No mutation identified		44
Total		100

95 of the 100 familial ALS cases were tested for the C9orf72 expansion mutation.