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