| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
JO
|
n.a.
|
5
|
15
|
n.a.
|
Developmental regression
Dystonia, generalized Cerebellar atrophy Dystonia (any or unspecified) Hypointensity on basal ganglia and or nigra Mri brain other abnormalities Seizures Tremor, intention Abnormal central motor function Cognitive impairment Pyramidal sign Tremor (any or unspecified) Myoclonus Spasticity Postural tremor Dystonia, axial Show more (+13) |
n.a.
|