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