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