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