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