Table 1. The phenotypic characteristics of patients with intermediate.

	Patient II:2	Patient II:3
Age (y)	40	36
Sex	Female	Male
Age at onset (y)	5	8
Symptoms	Gait instability, speech difficulties	Gait instability, speech difficulties
Clinical signs	Gait and limb ataxia, dysarthria, horizontal nystagmus	Gait and limb ataxia, dysarthria, horizontal nystagmus
Other symptoms	Cataract	Cataract
EMG and NCV	Normal	EMG: Normal; NCV: partial abnormality
Evoked potentials	VEP: normal; AEP: normal;SEP: increased latency in RLL	VEP: normal; AEP: increased latency; SEP: normal
ICARS	46	29
SARA	17	11
MMSE	27	30
Brain MRI	Cerebellar atrophy	Cerebellar atrophy