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