Table 2

 Clinical findings in the affected individuals of the family with autosomal recessive spinocerebellar ataxia (fig 1)

PatientIII:7III:8III:12III:15III:16
+, symptom present; –, symptom absent; 0, not examined; ↓, decreased.
SexMFMMF
Age at onset (years)ChildhoodChildhoodChildhoodChildhoodChildhood
Age at examination (years)4650566064
Walking↓↓↓↓(↓)↓↓↓↓↓↓
Writing↓↓↓↓↓↓↓↓↓↓
Nystagmus+++
Saccadic pursuit++++
Postural tremor++
Dysarthria+++++
Gait ataxia++++++++
Limb ataxia+++++++
Vibration senseNormalNormal
Hyperreflexia++++
Babinski sign++
EMGNormal00Mild axonal neuropathy0
Neuropsychological examinationCognitive slowness, mild concentration disturbance0000
MRI scan cerebrumAtrophy cerebellum and pons0Mild atrophy cerebellum and ponsAtrophy cerebellum and ponsAtrophy cerebellum and pons
Ophthalmological examination000Normal0