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