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Table 1 Clinical features of patients with autosomal recessive cerebellar

From: Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

 

III-2 (Family 1)

III-3 (Family 1)

II-2 (Family 2)

II-8 (Family 3)

Gender

F

F

F

F

Age at onset (years)

20

16

30

25

Disease duration (years)

5

7

20

19

Initial symptom

GU

GU/SS

GU

GU/SS/T

Ataxia

TL

L

L

TL

Nystagmus

H

V

_

H

Slow saccade

_

+

_

_

Diplopia

+

+

_

_

Dysarthria

+

+

+

+

Tremor

TL

L

_

TL

Pes cavus

+

+

_

_

Tendon reflexes

absent

decreased

decreased

left brisk

Babinski sign

right positive

bilateral positive

negative

NA

AFP (<20 ng/ml)

81.1

40.3

9.74

NA

LDL (2.1 ~ 3.1 ng/mL)

1.68

1.79

4.16

NA

cholesterol (3.1–6 nmol/L)

3.90

3.45

7.84

NA

triglyceride (<1.69 nmol/L)

0.46

0.71

2.76

NA

MMSE (30)

28

29

NA

NA

EMG

SMN

SMN

NA

NA

Brain MRI

CA

CA

CA

CA

EEG

borderline

normal

NA

normal

Other features

hand deformity

hand deformity

diabetes; macula lutea impairment

myoclonic jerks; involuntary movement

  1. CA cerebellar atrophy, F female, GU gait unsteadiness, H horizontal, HV horizontal and vertical, L limbs, NA non-available, T termor, TL trunk and limbs, SMN sensorimotor neuropathy, SS screening speech, + positive, _ negative