| 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.
|
Optic atrophy
Mri brain other abnormalities Pyramidal sign Abnormal central motor function Strabismus Cerebellar atrophy Rigidity Developmental regression Nystagmus Hyperreflexia Hypointensity on basal ganglia and or nigra Show more (+8) |
Developmental regression
Hyperreflexia |