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