Table 3 The genetic analysis of 27 cases

1

M/12

SPG3A(P)

ATL1

chr1451081124

NM_015915

c.757G > A

p.V253I

het

AD

P

[12]

2

M/20

SPG4(P)

SPAST

chr2–32,339,776-

32,339,776

NM_014946

c.753dupA

p.V252SfsTer13

het

AD

LP

[13]

3

F/4

SPG4(P)

SPAST

chr2–32,379,455

NM_014946

c.1741C > T

p.R581X

het

AD

P

[14]

4

F/3

SPG4(P)

SPAST

chr2–32,379,455

NM_014946

c.1741C > T

p.R581X

het

AD

P

[14]

5

M/13

SPG4(C)

SPAST

chr2–32,340,789

NM_014946

c.891_892insG^a

p.T298DfsTer3

het

AD

LP

–

6

M/24

SPG4(P)

SPAST

chr2:32352057–32,352,058

NM_014946

c.1140delC^a

p.F381LfsTer15

het

AD

LP

–

7

F/27

SPG10(C)

KIF5A

chr12–57,961,297

NM_004984

c.610C > T

p.R204W

het

AD

LP

[15]

8

F/32

SPG31(P)

REEP1

chr2–86,564,617

NM_022912

c.17 T > A^a

p.I6N

het

AD

U

–

9

F/4

SPG5A(P)

CYP7B1

chr8–65,517,390

chr8–65,536,958

NM_004820

c.1082G > A

c.259 + 2 T > C

p.R361Q

Splicing

het

AR

LP/P

[16, 17]

10

M/4

SPG5A(P)

CYP7B1

chr8–65,509,207-65,509,208

chr8–65,536,958

NM_004820

c.1512delG^a

c.259 + 2 T > C

p.V504fs

Splicing

het

AR

P/P

[17]

11

M/17

SPG11(C)

SPG11

chr15–44,907,576-44,907,577

chr15–44,955,591

NM_025137

c.3022delT^a

c.255G > A

p.Y1008TfsTer29

p.W85X

het

AR

LP/P

[18]

12

F/20

SPG11(C)

SPG11

chr15–44,856,737-44,856,741

chr15–44,951,490-44,951,490

NM_025137

c.7151 + 4_7151 + 7delAGTA

c.453dupA

Splicing

p.L152IfsTer10

het

AR

LP/P

[19, 20]

13

M/13

SPG15(C)

ZFYVE26

chr14–68,228,953

NM_015346

c.6336C > G^a

p.Y2112X

hom

AR

LP

–

14

F/37

SPG35(C)

FA2H

chr16–74,750,278

chr16–74,753,052

NM_024306

c.1006C > G^a

c.620C > T

p.H336D

p.T207M

het

AR

U/LP

[8]

15

M/3

SPG46(C)

GBA2

chr9–35,737,315

chr9–35,738,132

NM_020944

c.2635C > T

c.2215G > T^a

p.R879W

p.D739Y

het

AR

LP/U

[6]

16

F/13

MMACHC

MMACHC

chr1–45,974,520

chr1–45,974,693-45,974,696

NM_015506

c.482G > A

c.656_658del

p.R161Q

p.219_220del

het

AR

P/P

[21]

17

M/34

MMACHC

MMACHC

chr1–45,974,520

chr1–45,974,647

NM_015506

c.482G > A

c.609G > A

p.R161Q

p.W203 X

het

AR

P/LP

[21]

18

M/13

MMACHC

MMACHC

chr1–45,974,482-45,974,484

chr1:45974520

NM_015506

c.445_446delTG

c.482G > A

p.C149HfsTer32

p.R161Q

het

AR

P/P

[21, 22]

19

M/15

MTHFR

MTHFR

chr1:11855183

chr1:11850900

NM_005957

c.1003C > T

c.1808C > T^a

p.R335C

p.S603F

het

AR

LP/U

[23]

20

M/23

MTHFR

MTHFR

chr1–11,856,345

chr1–11,863,038

NM_005957

c.698C > G

c.136C > T

p.A233G

p.R46W

hom

AR

LP

[24, 25]

21

F/29

CTX

CYP27A1

chr2–219,674,454

chr2–219,679,132

NM_000784

c.410G > A

c.1214G > A

p.R137Q

p.R405Q

het

AR

LP/LP

[26, 27]

22

M/30

X-ALD

ABCD1

chrX-153,002,631-153,002,633

NM_000033

c.1415_1416del

p.Q472RfsTer82

hemi

XLR

P

[28]

23

M/31

X-ALD

ABCD1

chrX:152994860–152,994,860

NM_000033

c.1074dupA

p.E359RfsTer42

hemi

XLR

P

[29]

24

M/24

HLD7

POLR3A

chr10–79,760,790

chr10–79,737,365

NM_007055

c.2422C > T^a

c.4044C > G^a

p.R808X

p.I1348M

het

AR

LP/U

–

25

M/61

Krabbe’s D

–

–

–

–

–

–

–

–

–

26

F/13

SCAR8

SYNE1

chr6–152,554,930

NM_033071

c.20485G > T^a

p.E6829X

hom

AR

LP

–

27

M/3

ARSACS

SACS

chr13–23,905,337-23,905,342

NM_014363

c.12673_12677del

p.Y4225DfsTer5

hom

AR

LP

[30]

28

M/12

CMTX4

AIFM1

chX-129,271,098

NM_004208

c.1030C > T

p.L344F

hemi

XLR

P

[31]