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