Table 1 Clinical and genetic evaluation of the female adult onset VWMD patients

1 [11, 12]

Gait instability Bilateral Babinski sign

IQ = 7 Visuo-spatial deficits

–

Primary amenorrhea

–

EIF2B4

C1393T C1465T

C465R Y489H

2 [11, 12]

Facial-oral-hand apraxia

IQ = 52 Frontal lobe deficits

Seizures

Delayed menarche

Obesity Hyperlipidemia

EIF2B4

C1393T C1465T

C465R Y489H

3 [11, 12]

Cerebellar and pyramidal deficits

Normal IQ

Dysarthria

Primary amenorrhea

–

EIF2B2

C547T A638G

R183stopE213G

4 [11]

Gait instability

IQ = 60 Executive deficits

–

Secondary amenorrhea at 26

–

EIF2B2

C512T 60712del/insTG

S171F M203 fs

5 [11]

–

IQ not evaluated

Delayed speech

–

–

EIF2B2

C547T A638G

R183stopE213G

6 [11]

Gait instability

IQ not evaluated

Anxiety and depression

Secondary amenorrhea at 27

EIF2B5

G338A

R113H

7 [11]

Gait instability

MMSE = 21/30

Seizures

Secondary amenorrhea at 31

–

EIF2B5

G338A

R113H

8 [11]

Gait instability

IQ = 96

–

Primary amenorrhea

–

EIF2B5

G338A C538T

R113H R195C

9 [13]

Gait slowness

MMSE = 17/30’ Executive deficits

Apathy

–

–

EIF2B5

C545T C1340T

T182 M S447 L

10 [14, 15]

–

–

Aphasia Paresthesias

Secondary Amenorrhea at 20

All metabolite reduction

EIF2B3

C260T G272A

A87V A91H

11 [16]

Hands clumsiness Gait instability

Memory deficits

–

Secondary amenorrhea at 37

–

EIF2B2

T254A

V85E

12 [16]

Gait instability

Miscalculation

–

Secondary amenorrhea at 28.

–

EIF2B5

G808C

D270H

13 [16]

Left leg weakness

–

Left hemianopia

–

–

EIF2B3

T80A

L27Q

14 [17]

Gait slowness Cerebellar ataxia

IQ = 73

–

Secondary amenorrhea at 32

Hypogonadism

EIF2B2

A638G

E213G

15 [18]

Spastic paraparesis Brisk reflexes Babinski sign

Visuo-spatial memory deficits

–

Premature amenorrhea

–

EIF2B3

C260T

A87V

16 [19]

Incoordination Spastic paraparesis

IQ = 66

Seizures

–

–

EIF2B1

T715G

F239 V

17 [20]

Tremors Paresis

Mild cognitive deficits

Dysarthria paresthesia

–

–

EIF2B5

G338A

R113H

18 [21]

Spastic gait Brisk tendon reflexes

IQ = 51 MMSE = 15/30 Memory deficits

Emotional instability

Secondary amenorrhea at 31

Obesity Hyperlipidemia

EIF2B5

C545T

T182 M

19 [22, 23]

Cerebellar ataxia

MMSE = 23/30

–

Primary amenorrhea

Obesity Hyperlipidemia

EIF2B5

G338A

R113H

20 [22,23,24]

Pyramid dysfunction

–

Seizures

Secondary amenorrhea at 30

–

EIF2B5

G338A

R113H

21 [25]

–

–

Seizures

Infertility

Obesity Hyperlipidemia

EIF2B2

A638G A818G

E213G K273H

22 [22, 23]

Cerebellar ataxia

MMSE = 25/30

Seizures

–

Hyperlipidemia

EIF2B5

G338A

R113H

23 [22, 23]

Spastic paraparesis

–

–

Delayed menarche

–

EIF2B5

G338A

R113H

24 [22, 23]

Spastic paraparesis Cerebellar ataxia

–

–

Primary amenorrhea

–

EIF2B5

G338A

R113H

25 [22, 23]

Spastic paraparesis

MMSE = 27/30

–

–

–

EIF2B5

G584A A1448G

A195H T483C

26 [22, 23]

Spastic paraparesis Cerebellar ataxia

MMSE = 21/30

Seizures

–

–

EIF2B5

A641G C805T

H214A A269X

27 [22, 23]

Tremors Paresis

MMSE = 10/30

Seizures

Secondary amenorrhea at 35

–

EIF2B5

G338A

R113H

28 [22, 23]

Spastic paraparesis

MMSE = 4/30

Seizures

Secondary amenorrhea at 21

–

EIF2B5

G338A

R113H

29 [22, 23]

Cerebellar ataxia

–

–

Secondary amenorrhea at 18

–

EIF2B5

G338A

R113H

30 [26]

–

–

Seizures paresthesia

Primary amenorrhea

Hypoglycemia

EIF2B5

C869A A913T

A299H M305 L

31 [27]

Spastic paraparesis Babinski sign

IQ = 60 MMSE = 16/30

–

–

–

EIF2B4

T617C A952G

M206 T I318V

32 [28]

Weakness and spastic in left limb

Normal IQ and MMSE

–

Secondary amenorrhea at 25

–

EIF2B4

–

–

33 (the present patient)

Tremors Babinski sign

IQ = 81MMSE = 24 Miscalculation Memory deficits

–

Menometrorrhagia

Obesity, hypoglycemia, hypertriglyceridemia

EIF2B2

T254A A496G

V85E M166 V