Table 2

The frequencies of mutations in common ALS-causing genes from different Asian cohorts

GeneInheritanceCountryNumber of patients (familial/sporadic)Familial ALSPer cent of familial ALSSporadic ALSPer cent of sporadic ALS
SOD1 (ALS1)AD/ARChina29 92–9486/466p.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.G148D27.9p.V29A, p.V47A, p.N86I, p.H46R, p.L84F, p.D90A1.3
India40Single familyp.L84F
Japan28 9539/908p.L38V, p.H46R, p.G93S, p.L106V, p.L126S, p.G141A, p.I149T36p.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 3913/397p.A4F, p.F20C, p.G37R, p.F45S,
p.P66S, p.G141E, p.N87S
54p.G16A, p.N86S,p.G141A0.8
Taiwan2430/131p.T137R, p.L8V, p.G10A, p.D83N, p.G85R, p.L106F, p.G138E26.7p.G16S, p.G37R, p.C111Y, p.T137R3.1
TARDP (ALS10)ADChina29 92 96–9833/767p.S292N3p.S292N, p.G348V,p.N378S0.5
Japan28 9960/1169p.G298S1.7p.I383V0.3
South Korea32 3913/39700
Taiwan2430/131p.M337V, p.G348V, p.N378D, p.I383V23.3
FUS (ALS6)AD/ARChina29 9228/324p.R521G, p.R521L7.1p.R495X, p.G504WfsX12, p.R521H, p.P525L1.9
Japan2839/469p.H517D, p.R521H7.7p.R521 L, p.P525L0.2
South Korea32 3913/397p.X527TextX,7.7p.R495X, p.G503WfsX12,
c.1169–5A<G, p.G399V
0.3
Taiwan2430/131p.H517D, p.R521H6.7p.H517D, p.R521H1.5
ANG (ALS9)ADChina29 92 9459/3240p.V103I0.3
South Korea32 3913/39700
SQSTM1 (ALS3)ADChina100 10135/3060p.I99L, p.D337E, p.L341V, p.E81K, p.N239K, p.G297S, p.E372D, p.P388S, p.P392L1.2
South Korea394/1480p.P439L0.7
MAPT (FTD)ADSouth Korea394/1480p.R5H0.7
ALS2ARSouth Korea394/1480p.Q435L0.7
OPTN (ALS12)AR/ADChina330/511p.A136V, .K395R, p.I451T, p.E516Q1.8
Japan34 102118/1284EX5DEL, p.Q398X, p.E478G3.4p.Q398X, p.E478G, p.A93P0.2
South Korea32 3913/39700
Taiwan2430/1310p.L494W0.8
C9orf72 (ALS-FTD2)ADChina29 30 103 10492/1917Repeat expansion2.2Repeat expansion0.3
Japan2011/552Repeat expansion0Repeat expansion0.4
South Korea238/246Repeat expansion0Repeat expansion0
Taiwan2430/131Repeat expansion16.7Repeat expansion4.3
  • AD, autosomal dominant; ALS, amyotrophic lateral sclerosis; AR, autosomal recessive.