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