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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