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