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