Skip to main content

Table 1 Clinical and genetic characteristics of SPG11 patients

From: Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia

Patient no.

Gender

Age at onset (years)

Disease duration (years)

SPRS

MoCA

SPG11 variants

Imaging results

Additional symptoms

1

m

15

7

21

5

c.733_734del (exon 4, p.M245fs)/c.4306_4307del (exon 25, p.Q1436fs)

TCC, enlarged ventricles

Bulbar speech, parkinsonism

2

f

1

22

21

17

c.3075dupA (exon 17, p.E1026fs)/c.6204A>G (exon 32, p.V2057Dfs)

TCC, periventricular white matter changes

Bulbar speech, epilepsy

3 (twin of 2)

f

1

22

17

15

c.3075dupA (exon 17, p.E1026fs)/c.6204A>G (exon 32, p.V2057fs)

TCC, periventricular white matter changes

Bulbar speech, neuropathy

4

f

19

29

36

14

c.267G>A (exon 2, p.W89*)/c.1457-2A>G (intron 6, splice acceptor)

TCC, frontal cortical atrophy, periventricular white matter changes

Bulbar speech, dysphagia, neuropathy

5

m

30

5

40

4

c.5623C>T (exon 30, p.Q1875*)homozygous

TCC, global atrophy, periventricular white matter changes

Bulbar speech, dysphagia, neuropathy

6

f

2

16

24

21

c.704_705del (exon 1, p.H235fs)/c.6832_6833del (exon 37, p.S2165fs)

TCC, frontoparietal atrophy, periventricular white matter changes

Bulbar speech, neuropathy, parkinsonism

7

f

20

20

37

c.3036C>A (exon 16, p.Y1012*)/c.5798_5798del (exon 30, p.A1933fs)

TCC, periventricular white matter changes

Bulbar speech, neuropathy

8 (sister of 7)

f

24

22

44

c.3036C>A (exon 16, p.Y1012*)/c.5798_5798del (exon 30, p.A1933fs)

TCC, periventricular white matter changes, frontal atrophy

Bulbar speech, neuropathy, edema, dysphagia

9

f

19

8

17

25

c.5623C>T (exon 30, p.Q1875*) homozygous

normal

Neuropathy

10

m

2

14

20

14

c.1203_1203delA (exon 6, p.D402fs) homozygous

TCC

Severe contractures, bulbar speech

11

m

42

3

10

28

c.255G>A (exon 1, p.W85*)/c.5381T>C (exon 30, p.L1794P)

normal

Neuropathy

12

m

9

10

27

10

c.2990T>A (exon 16, p.L997*)/c.4877_4878del (exon 28, p.F1626C)

TCC, periventricular white matter changes, frontal atrophy

Bulbar speech, parkinsonism

13

m

3

23

16

16

c.1951C>T homozygous (exon 10, p.R651*)

not available

None

14

m

3

22

31

8

c.190dupC (exon 1, p.Q64E)/c.704_705del (exon 4, p.H235fs)

TCC, periventricular white matter changes, frontal atrophy

Bulbar speech

15

f

15

6

14

30

c.2612dupG (exon 14, p.S871fs)/c.4434G>T (exon 25, p.? suspected splice variant)

TCC, periventricular white matter changes

None

16

f

1

22

16

19

c.2247del (exon 12, p.F750fs)/c.5623C>T (exon 30, p.Q1875*)

TCC, periventricular white matter changes, frontal atrophy

Neuropathy, bulbar speech, edema

  1. m male, f female, SPRS spastic paraplegia rating scale, MoCA Montral Cognitive Assessment, TCC thinning of the corpus callosum