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