| 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
Seizures Gait ataxia Dysphagia Dilated fourth ventricle Weight loss Wheelchair Spasticity Ataxia, limb Postural instability Cerebral atrophy Short stature Dysarthria Ataxia Mental deterioration Muscle weakness Walking aids Show more (+14) |
Gait ataxia
Mental deterioration |