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