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