Table 2 Detailed clinical features of 25 probands with mutation detected by WES

1/M

1/2

Sporadic

SACS

ARSACS

p.K3646fs, chr13:23490196-24866656 del

Gait disturbance

+

−

–

SMN, abnormality of the dentition

Normal

2/M

1/30

Sporadic

SACS

ARSACS

p.F2667S, p.F3562fs

Gait disturbance

+

+

H

SMN, spasticity, pes cavus, mild intellectual disability, saccadic pursuit, muscle atrophy and weakness of upper and lower limbs, hearing loss of right ear

Brain and cerebellum atrophy, A*

3/F

1/20

Affected sister

SACS

ARSACS

p.R2932fs (Hom)

Gait disturbance

+

+

–

SMN, spasticity, pes cavus

Cerebellum atrophy, A*

4/M

4/22

Sporadic

SACS

ARSACS

p.D2634A, p.3773_3774del

Gait disturbance

+

+

H

SMN, spasticity, pes cavus, epilepsy, flexion deformity of fingers, weakness of lower limb

Cerebellum atrophy, craniocerebral dysplasia, A*

5/M

11/26

CP

SACS

ARSACS

p.V2601D (Hom)

Gait disturbance

+

+

H

SMN, sensorineural hearing loss of left ear, pes cavus, weakness of lower limb

Cerebellum atrophy, A*

6/M

39/7

CP

SACS

ARSACS

p.3758_3759 del (Hom)

Gait disturbance

+

−

–

SMN, weakness of limbs, muscle atrophy of lower limb

Cerebellum atrophy, A*

7/M

9/20

Sporadic

SYNE1

SCAR8

p.K1094X, p.E5273fs

Gait disturbance

+

+

H

Psychiatric symptoms, limited abduction and supraduction of eyes, myoclonic jerks

Cerebellar atrophy

8/M

19/20

Affected brother

SYNE1

SCAR8

p.E3053fs (Hom)

Gait disturbance

+

−

–

Dysphagia

NA

9/F

21/4

Sporadic

SYNE1

SCAR8

p.L6946fs, c.23765 + 1G > A

Gait disturbance

+

+

H

SMN, tremor, dizziness, pes cavus, mental retardation, ankylosing spondylitis

Cerebellar atrophy

10/F

25/0.1

Sporadic

SYNE1

SCAR8

c.909 + 1G > A, p.R3479X

Gait disturbance

+

−

H

Sensorineural hearing loss

Cerebellar atrophy

11/F

53/4

Affected brother

SYNE1

SCAR8

p.R85X, p.H5844fs

Gait disturbance

+

+

–

Dysphagia, SMN

Cerebellar atrophy

12/M

2/5

Sporadic

ADCK3

SCAR9

p.R410X (Hom)

Gait disturbance

+

+

NA

–

Cerebellar atrophy

13/M

9/2

Sporadic

ADCK3

SCAR9

p.R271H, p.R301W

Gait disturbance

+

+

NA

Reduced dexterity of hands, cognitive impair

Cerebellar atrophy

14/M

14/3

Sporadic

ADCK3

SCAR9

p.R598H, p.S616fs

Hand shake uncontrollably

+

−

NA

Both hands and head shake uncontrollably

Brainstem, cerebellar atrophy

15/M

24/2

Sporadic

ADCK3

SCAR9

p.S616fs (Hom)

Hand shake uncontrollably

+

+

–

Both hands and head shake uncontrollably, dysphagia, SMN

Cerebellar atrophy

16/F

32/20

Affected sister

ADCK3

SCAR9

p.L320fs (Hom)

Gait disturbance

+

+

H

Right common peroneal neuropathy, cognitive impair, incomplete ptosis of left eyelid

Cerebellar atrophy

17/M

18/2

Sporadic

SETX

AOA2

p.C43Y, p.A1608fs

Gait disturbance

+

+

H

Postural tremor of the limbs, tongue muscle tremors, pes cavus, SMN, AFP elevation

Cerebellar atrophy

18/F

18/0.5

Sporadic

SETX

AOA2

p.F1756S, p.V2337fs

Gait disturbance

+

+

H

Head shakes uncontrollably, dysphagia, pollakiuria, SMN, AFP elevation

Cerebellar atrophy

19/F

21/10

Sporadic

SETX

AOA2

p.Y2455C (Hom)

Diplopia

+

−

H, V

SMN, head shake uncontrollably, reduced dexterity of hands, esotropia of the left eye, SMN, AFP elevation

Cerebellar atrophy

20/F

35/8

CP

ANO10

SCAR10

p.D45fs (Hom)

Dizziness

+

+

H

Diplopia, dysphagia, SMN

Cerebellar atrophy

21/M

7/10

Sporadic

SPTBN2

SCAR14

p.R25C, p.G208R

Slurred speech

+

+

–

Sensorineural hearing loss, intellectual disability

Normal

22/F

21/11

Sporadic

STUB1

SCAR16

p.K145Q, p.K145del

Psychiatric symptoms

+

+

H

Depression

Cerebellar atrophy

23/F

8/4

Sporadic

TTPA

AVED

p.D185Y (Hom)

Gait disturbance

+

+

H

Both hands and head shake uncontrollably, SMN

Cerebellar atrophy

24/F

12/5

Affected brother

ATM

AT

p.S974fs, p.S2168L

Psychiatric symptoms

+

+

–

Dizziness, head shake uncontrollably, autonomic dysfunction, scoliosis, pes cavus

NA

25/M

8/8

Sporadic

KIF1C

SPAX2

p.G885fs (Hom)

Paroxysmal headaches

+

+

–

Limbs shake uncontrollably, voice tremble, abnormal EEG

Myelin dysplastic