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Table 1 Clinical features of affected family members

From: Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia

Characteristic

II 1

II3

II5

II7

III4

Age at examination

59

53

49

48

26

Age at symptom onset

29

30

28

26

24

Symptoms at onset

gait instability

gait instability

gait instability

gait instability

gait instability

SARA

20

10

12

22

5

Dysarthria

mild

no

mild

moderate

no

Ocular signs

no

no

saccadic pursuit, smooth pursuit defective

saccadic pursuit, smooth pursuit defective

no

Reflexes of

  

Slight

  

Upper limb

normal

normal

hyperreflexia

normal

normal

Lower limb

normal

normal

Slight

normal

normal

 

hyperreflexia

 

Cerebellar signs in ULs

no

no

moderate

moderate

mild

Gait ataxia

mild

mild

moderate

moderate

mild

Muscle tone

normal

normal

normal

normal

normal

Involuntary movement

no

no

no

no

no

Babinski sign

negative

negative

positive

positive

negative

Cerebral MRI

cerebellar atrophy

NA

cerebellar atrophy

cerebellar atrophy

NA

Other complications

weakness of LLs

no

memory decline

vertigo

no

MoCA

23

24

18

25

28

  1. Abbreviations are as follows: NA, not available; SARA, scale for the assessment and rating of ataxia; UL, upper limb; LL, lower limb. Personal numbers are followed by pedigree numbers according to Fig. 1. Cerebellar signs in ULs means poor distance distinguishing and rotation dysfunction