Gene | Inheritance | Country | Number of patients (familial/sporadic) | Familial ALS | Per cent of familial ALS | Sporadic ALS | Per cent of sporadic ALS |
---|---|---|---|---|---|---|---|
SOD1 (ALS1) | AD/AR | China29 92–94 | 86/466 | p.C6S, p.G41D, p.H46R, p.L106V, p.G141A, p.C111Y, p.G147D, p.G72C, p. E133V, p.C6S,p.G16A, p.G16C, p.E21G,p.G41D, p.K128fsX131, p.L84F,p.G93R, p.C147R,p.F21C, p.G148D | 27.9 | p.V29A, p.V47A, p.N86I, p.H46R, p.L84F, p.D90A | 1.3 |
India40 | Single family | p.L84F | |||||
Japan28 95 | 39/908 | p.L38V, p.H46R, p.G93S, p.L106V, p.L126S, p.G141A, p.I149T | 36 | p.H43R, p.G93S, p.L126S, p.S134N p.K3E, p.C6Y, p.Q22H, p.G93S, p.S134T, p.K136X, p.N139H, p.N139N, p.A140A | 4.7 | ||
South Korea32 39 | 13/397 | p.A4F, p.F20C, p.G37R, p.F45S, p.P66S, p.G141E, p.N87S | 54 | p.G16A, p.N86S,p.G141A | 0.8 | ||
Taiwan24 | 30/131 | p.T137R, p.L8V, p.G10A, p.D83N, p.G85R, p.L106F, p.G138E | 26.7 | p.G16S, p.G37R, p.C111Y, p.T137R | 3.1 | ||
TARDP (ALS10) | AD | China29 92 96–98 | 33/767 | p.S292N | 3 | p.S292N, p.G348V,p.N378S | 0.5 |
Japan28 99 | 60/1169 | p.G298S | 1.7 | p.I383V | 0.3 | ||
South Korea32 39 | 13/397 | 0 | 0 | ||||
Taiwan24 | 30/131 | p.M337V, p.G348V, p.N378D, p.I383V | 23.3 | ||||
FUS (ALS6) | AD/AR | China29 92 | 28/324 | p.R521G, p.R521L | 7.1 | p.R495X, p.G504WfsX12, p.R521H, p.P525L | 1.9 |
Japan28 | 39/469 | p.H517D, p.R521H | 7.7 | p.R521 L, p.P525L | 0.2 | ||
South Korea32 39 | 13/397 | p.X527TextX, | 7.7 | p.R495X, p.G503WfsX12, c.1169–5A<G, p.G399V | 0.3 | ||
Taiwan24 | 30/131 | p.H517D, p.R521H | 6.7 | p.H517D, p.R521H | 1.5 | ||
ANG (ALS9) | AD | China29 92 94 | 59/324 | 0 | p.V103I | 0.3 | |
South Korea32 39 | 13/397 | 0 | 0 | ||||
SQSTM1 (ALS3) | AD | China100 101 | 35/306 | 0 | p.I99L, p.D337E, p.L341V, p.E81K, p.N239K, p.G297S, p.E372D, p.P388S, p.P392L | 1.2 | |
South Korea39 | 4/148 | 0 | p.P439L | 0.7 | |||
MAPT (FTD) | AD | South Korea39 | 4/148 | 0 | p.R5H | 0.7 | |
ALS2 | AR | South Korea39 | 4/148 | 0 | p.Q435L | 0.7 | |
OPTN (ALS12) | AR/AD | China33 | 0/511 | p.A136V, .K395R, p.I451T, p.E516Q | 1.8 | ||
Japan34 102 | 118/1284 | EX5DEL, p.Q398X, p.E478G | 3.4 | p.Q398X, p.E478G, p.A93P | 0.2 | ||
South Korea32 39 | 13/397 | 0 | 0 | ||||
Taiwan24 | 30/131 | 0 | p.L494W | 0.8 | |||
C9orf72 (ALS-FTD2) | AD | China29 30 103 104 | 92/1917 | Repeat expansion | 2.2 | Repeat expansion | 0.3 |
Japan20 | 11/552 | Repeat expansion | 0 | Repeat expansion | 0.4 | ||
South Korea23 | 8/246 | Repeat expansion | 0 | Repeat expansion | 0 | ||
Taiwan24 | 30/131 | Repeat expansion | 16.7 | Repeat expansion | 4.3 |
AD, autosomal dominant; ALS, amyotrophic lateral sclerosis; AR, autosomal recessive.