| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
JPN
|
6
|
14
|
n.a.
|
Cerebellar atrophy
Dysarthria Postural instability Seizures Gait ataxia Ataxia Cerebral atrophy Spasticity Ataxia, limb Short stature Weight loss Dysphagia Walking aids Dilated fourth ventricle Muscle weakness Wheelchair Mental deterioration Show more (+14) |
Gait ataxia
Mental deterioration |