| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
KWT
|
n.a.
|
17
|
No
|
Psychosis
Rigidity Dystonia at rest Cerebellar signs Cognitive impairment Hypomimic face Dystonia, hand Dystonia, limb Dystonia, cervical NMS parkinsonism Datscan/trodat with evidence of dopaminergic deficit Cerebellar atrophy Hypointensity on basal ganglia and or nigra Dystonia, oromandibular Postural instability Mri brain other abnormalities Dystonic posturing Dystonia (any or unspecified) Psychiatric disorders Depression Show more (+17) |
Depression
|