| Gene | Family | Exon | Mutation |
|---|---|---|---|
| SPAST | 2o, 21o | 10 | c.1291C>T (p.Arg431Term) |
| 43o** | 15 | c.1663G>T (p.Asp555Asn) | |
| 44o | 8 | c.1107A>G (p.Thr369Thr)* | |
| 5** | 11 | .1391A>G (p.Glu464Gly)* | |
| 19 | 17 | c.1750_1751delGAinsT | |
| 32 | 8 | c.1139T>C (p.Leu380Pro) | |
| 35 | 10 | c.1271delG* | |
| 44 | 1 | c.286delG | |
| 54 | 9 | c.1245+1G>A (IVS9+1G>A) | |
| 73** | 9 | c.1216A>G (p.Ile406Val) | |
| 75 | 15 | c.1684C>T (p.Arg562Term) | |
| 53o | 3 | c.551A>C (p.Asn184Thr) | |
| 26o | 6–16 | del.ex6-16* | |
| 33o | 1 | del.ex1 | |
| 59o** | 10–12 | dup.ex10-12 | |
| 20 | 10–13 | del.ex10-13* | |
| 84** | 15–16 | del.ex15-16* | |
| 88 | 1 | dup.ex1* | |
| ATL1 | 46, 37o | 12 | c.1243C>T (p.Arg415Trp) |
| 13**, 6o | 7 | c.715C>T (p.Arg239Cys) | |
| 22 | 8 | c.757G>A (p.Val253Ile) | |
| 51 | 12 | c.1483C>T (p.Arg495Trp) | |
| 70** | 8 | c.773A>G (p.His258Arg) | |
| 42 | 1–14 | del.ex1-14* |