Table 2

Summary of SALS cases who carried multiple ALS-implicated variants

Sample nameVariant 1Variant 2Variant 3Polygenic or oligogenic inheritance?
MQ140094 ATXN2 CAG repeat expansion SETX c.T7640C, p.I2547T.Polygenic
SALS0890 ATXN2 CAG repeat expansion SQSTM1 c.G822C, p.E274D.Polygenic
SALS1278 ATXN2 CAG repeat expansion SQSTM1 c.G822C, p.E274D.Polygenic
SALS0396 C21orf2 c.G172T, p.V58L SPG11 c.A6224G, p.N2075S.Polygenic
SALS1724 C9orf72 GGGGCC expansion ATXN2 CAG repeat expansion NEK1 c.G782A, p.R261HOligogenic
SALS0782 C9orf72 GGGGCC expansion C21orf2 c.G172T, p.V58L.Oligogenic
SALS1806 C9orf72 GGGGCC expansion C21orf2 c.G172T, p.V58L.Oligogenic
MQ140100 C9orf72 GGGGCC expansion CHCHD10 c.C239T, p.P80L.Oligogenic
SALS0846 C9orf72 GGGGCC expansion FUS c.*41G>A, intronic.Oligogenic
SALS1354 C9orf72 GGGGCC expansion FUS c.*41G>A, intronic.Oligogenic
SALS1574 C9orf72 GGGGCC expansion FUS c.833–29C>T, intronic.Oligogenic
SALS1488 C9orf72 GGGGCC expansion FUS c.833–29C>T, intronic OPTN c.T293A, p.M98KOligogenic
SALS2337 C9orf72 GGGGCC expansion OPTN c.G476T, p.G159V.Oligogenic
SALS0859 C9orf72 GGGGCC expansion OPTN c.T293A, p.M98K.Oligogenic
SALS1387 C9orf72 GGGGCC expansion SETX c.T7640C, p.I2547T.Oligogenic
SALS0326 C9orf72 GGGGCC expansion SPG11 c.A6224G, p.N2075S.Oligogenic
SALS1090 C9orf72 GGGGCC expansion SPG11 c.A6224G, p.N2075S.Oligogenic
SALS0934 C9orf72 GGGGCC expansion SQSTM1 c.G822C, p.E274D.Oligogenic
SALS1522 C9orf72 GGGGCC expansion SQSTM1 c.G822C, p.E274D.Oligogenic
SALS1960 C9orf72 GGGGCC expansion SQSTM1 c.G822C, p.E274D.Oligogenic
SALS2359 C9orf72 GGGGCC expansion SQSTM1 c.G822C, p.E274D.Oligogenic
SALS1910 CHCHD10 c.C100T, p.P34S SETX c.T7640C, p.I2547T.Polygenic
SALS1980 CHCHD10 c.C100T, p.P34S SQSTM1 c.G822C, p.E274D.Polygenic
MQ130086 FUS c.*41G>A, intronic CCNF c.G2140A, p.V714M.Polygenic
SALS1809 FUS c.*41G>A, intronic OPTN c.G403T, p.E135X.Polygenic
MQ150164 FUS c.*41G>A, intronic OPTN c.T293A, p.M98K.Polygenic
SALS0226 FUS c.*41G>A, intronic OPTN c.T293A, p.M98K CHCHD10 c.C239T, p.P80LPolygenic
MQ140255 FUS c.833–29C>T, intronic NEK1 c.C3107G, p.S1036X.Polygenic
MN201410 FUS c.833–29C>T, intronic OPTN c.T293A, p.M98K.Polygenic
SALS0312 FUS c.833–29C>T, intronic SETX c.A2975G, p.K992R.Polygenic
SALS2282 NEK1 c.C3107G, p.S1036X ANG c.A122T, p.K41I.Polygenic
MQ160055 NEK1 c.G782A, p.R261H OPTN c.T293A, p.M98K.Polygenic
SALS1700 OPTN c.T293A, p.M98K NEFH c.2230_2247del, intronic.Polygenic
SALS2258* SOD1 c.T341C, p.I114T CCNF c.G2140A, p.V714M C21orf2 c.G172T, p.V58LOligogenic
MN201517* SOD1 c.T341C, p.I114T SETX c.A2975G, p.K992R.Oligogenic
SALS1259* SOD1 c.T341C, p.I114T SQSTM1 c.G822C, p.E274D.Oligogenic
MQ140090 SQSTM1 c.G822C, p.E274D ANG c.A208G, p.I70V.Polygenic
SALS1380 SQSTM1 c.G822C, p.E274D DCTN1 c.C3746T, p.T1249I.Polygenic
SALS0189 SQSTM1 c.G822C, p.E274D OPTN c.T293A, p.M98K.Polygenic
SALS2285 SQSTM1 g.3'+7G>C, intronic OPTN c.T293A, p.M98K.Polygenic
SALS1130 TARDBP c.543+112C>A, intronic C21orf2 c.G172T, p.V58L.Polygenic
MQ140199 TBK1 c.A871G, p.K291E OPTN c.T293A, p.M98K.Polygenic
  • *Reclassified as FALS in the study by Henden et al.35

  • FALS, familial amyotrophic lateral sclerosis; SALS, sporadic amyotrophic lateral sclerosis.