| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
6
|
No
|
Falls
Ataxia Developmental regression Athetosis Dystonia, leg Gait impairment Delayed gross motor development Dystonia -Motor Chorea Cerebellar signs Dystonia (any or unspecified) Show more (+9) |
Falls
Chorea |