| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Abnormal central motor function
Nystagmus Strabismus Optic atrophy Developmental regression Mri brain other abnormalities Cerebellar atrophy Hyperreflexia Rigidity Pyramidal sign Hypointensity on basal ganglia and or nigra Show more (+8) |
Developmental regression
Hyperreflexia |