Table 1.

Genetics of human ALS.

Locus	Gene	Protein	Mutations	Proportion of inherited ALS	Discovery date	Reference
21q22.1	SOD1	Cu/Zn superoxide dismutase	>150*	20%	1993	[65]
9p13.2–21.3	Unknown	Unknown	Unknown	20%**	Unknown	[66–68]
1q36	TARDBP	TDP-43	>40*	5%	2008	[9,10••,11••]
16p11.2	FUS	FUS/TLS	>40*	4%	2009	[13••,14••]
9p13.3	VCP	Valosin-containing protein	5	1–2%+	2010	[70]
10p15-p14	OPTN	Optineurin	1	1–2%+	2010	[71]
6q21	FIG4	PI(3,5)P(2)5-phosphatase	5*	1%+	2009	[72]
12q24	DAO	D-amino acid oxidase	1	1%+	2010	[73]
14q11	ANG	Angiogenin	>10*	<1%	2006	[74]

Only classical adult onset ALS cases with autosomal dominant inheritance are included. Each gene, except for SOD1, accounts for <1% of all (familial + sporadic) ALS cases.

^*Including sporadic ALS cases.

^**The largest remaining cohort of inherited ALS, estimates of proportion of inherited ALS are up to 20% (reported to account for 38% of familial ALS in Finland [69]).

⁺To date, reported only in a single publication.