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