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