Table 1.
Mutations identied in the SPAST gene in the Spanish HSP cohort.
| Case | Onset age (Years) | Phenotype* | GENE | EXÓN | Mutation | Protein change | Reference |
|---|---|---|---|---|---|---|---|
| 193 | 60 | Pure-UHSP | SPAST | 1 | c.349C->T | p.Arg117X | This study |
| 69 | 45 | Pure-SHSP | SPAST | 2 | c.469delG | p.Glu157f sX159 | This study |
| 81 | 35 | Pure-SHSP | SPAST | 3 | c.577C>T | p.Gln193X | [7] |
| 138 | 2 | Complicated-ADHSP | SPAST | 3 | c.583C->G | p.Leu195Val | [10] |
| 166 | 43 | Pure-ADHSP | SPAST | 5 | C.782C>G | p.Ser261X | [7] |
| 197 | 53 | Pure-ADHSP | SPAST | 5 | c.857-859delCTA | p.Pro286-Thr287delinsP | This study |
| 257 | 23 | Pure-ADHSP | SPAST | 5 | c.806c->G | Tyr269X | [7] |
| 300 | 8 | Pure-ADHSP | SPAST | 5 | c.746C>G | p.Ser249X | [8] |
| 174 | 1 | Pure-ADHSP | SPAST | 6 | c.879delG | p. Pro293fsX314 | This study |
| 205 | 20 | Pure-ADHSP | SPAST | 6 | .936-37insA | pLys.312fsX318 | This study |
| 206 | 30 | Pure- UHSP | SPAST | 6 | c.977-978insA | p.Asn326fsX331 | This study |
| 335 | 32 | Pure- SHSP | SPAST | 6 | c.878C>T | p.Pro293Leu | This study |
| 13 | 40 | Pure-ADHSP | SPAST | 7 | c.1040A>C | p.Gln347His | This study |
| 130 | 0 | Complicated-ADHSP | SPAST | 7 | c.1082C>T | p.Pro361Leu | [41] |
| 133 | 35 | Pure-ADHSP | SPAST | 7 | c.1054C>T | p.Gln352X | This study |
| 351 | Pure-ADHSP | SPAST | 7 | c. 1091-1098delGGCCTGAG | p.Arg364fsX392 | This study | |
| 47 | 66 | Pure-ADHSP | SPAST | 8 | c.1139T>A | p.Leu380His | [15] |
| 111 | 49 | Pure-ADHSP | SPAST | 8 | c.1133T->G | p.Leu378Arg | This study |
| 180 | 54 | Pure-ADHSP | SPAST | 8 | c.1172T>C | p.Leu391Pro | [42] |
| 273 | 1 | Complicated-SHSP | SPAST | 8 | c.1168A->G | p.Met390Val | [43] |
| 7 | 44 | Pure-ADHSP | SPAST | 9 | c.1215-1219delTATAA | p. Asn405fsX441 | [7] |
| 22 | 42 | Pure-ADHSP | SPAST | 9 | c.1174-1180delGCTAAG | p.Ala392fsX405 | This study |
| 23 | 35 | Pure-ADHSP | SPAST | 9 | c.1226G>A | p.Ala409Thr | This study |
| 32 | 35 | Pure-ADHSP | SPAST | 9 | c.1177-1180delAAAGCAGTA GCT | p.Lys393-Ala396del | This study |
| 52 | 45 | Pure-ADHSP | SPAST | 9 | c.1210-1212delTTT | p.Phe404del | [44] |
| 80 | 38 | Pure-ADHSP | SPAST | 9 | c.1210-1212delTTT | p.Phe404del | [44] |
| 98 | 29 | Pure-ADHSP | SPAST | 9 | c.1192-93delGA/insT | Glu398fsX406 | This study |
| 179 | 10 | Pure-ADHSP | SPAST | 9 | c.1192-93delGA/insT | Glu398fsX406 | This study |
| 363 | 2 | Pure_ADHSP | SPAST | 9 | C.1128A>C | p.Ser410Arg | This study |
| 135 | 47 | Pure-ADHSP | SPAST | 10 | c.1306T>C | p.Ser436Pro | This study |
| 170 | 3 | Complicated-SHSP | SPAST | 10 | c.1276 C>G | p.Leu426Val | [7] |
| 373 | 10 | Pure-ADHSP | SPAST | 10 | c. 1321G->A | p.Asp441Asn | This study |
| 50 | 2 | Pure-ADHSP | SPAST | 11 | c.1387A>G | p.Thr463Ala | This study |
| 200 | 35 | Pure-ADHSP | SPAST | 11 | c.1378c>A | p.Arg460Ser | [45] |
| 308 | 30 | Pure -ADHSP | SPAST | IVS11 | c.1414-2A>C | Exon 12 skipping | This study |
| 322 | 30 | Pure_ADHSP | SPAST | IVS11 | c.1414-1G>C | Exon 12 skipping | This study |
| 86 | 40 | Pure- ADHSP | SPAST | 12 | c.1439-1145delTACTTGT/insC | p.Val480fs | This study |
| 118 | 61 | Pure-ADHSP | SPAST | 12 | c.1466C-> T | p.Pro489Leu | [46] |
| 177 | 20 | Pure-ADHSP | SPAST | 12 | c.1492A<G | p.Arg498Gly | This study |
| 352 | Pure-ADHSP | SPAST | 12 | c.1474C>T | p.Leu492Phe | This study | |
| 145 | 16 | Pure-ADHSP | SPAST | IVS12 | c1494-2A>G | presumed missplicing | This study |
| 178 | 1 | Pure-SHSP | SPAST | 13 | c.1507-1508insGGC | p.Lys503insArg | This study |
| 334 | 32 | Pure-ADHSP | SPAST | 13 | c.1540A>G | p.Arg503Trp | [11] |
| 358 | 30 | Pure-ADHSP | SPAST | 14 | c.1540A>G | p.Arg514Gly | [12] |
| 253 | 18 | Pure-ADHSP | SPAST | 15 | c.1684C>T | p.Arg562X | [7] |
| 261 | 50 | Pure-ADHSP | SPAST | IVS15 | c.1687+1G/A | Ex15 skipping | [7] |
| 62 | 40 | Pure-ADHSP | SPAST | IVS15 | c.1687+1G/T | Ex15 skipping | This study |
| 103 | 40 | Pure-ADHSP | SPAST | 17 | c.1793T-> C | p.Ile580Thr | This study |
| 112 | 56 | Pure-ADHSP | SPAST | 17 | C.1739T-> C | p.Ile580Thr | This study |
| 212 | 35 | Pure-ADHSP | SPAST | 17 | c.1849T-> G | p.X617Glu | This study |
| 286 | 54 | Complicated-UHSP | SPAST | 17 | c.1849T-> G | p.X617Glu | This study |
| 310 | 36 | Pure- UHSP | SPAST | 17 | C.1838A-> C | p.Asp613Ala | This study |
| EXON DELETIONS | |||||||
| 199 | 20 | Pure-ADHSP | SPAST | - | EX10-16 deletion | [14] | |
| 225 | 14 | Pure-ADHSP | SPAST | - | Ex 6-7 deletion | This study | |
* ADHSP- Autosomal dominant spastic paraplegia; SHSP: apparently sporadic spastic paraplegia (including siblings with healthy parents); UHSP: Unkown familial history spastic paraplegia