Table 1 Mutations identied in the SPAST gene in the Spanish HSP cohort.

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