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