Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
27
|
30
|
n.a.
|
Dysarthria
Dystonia, limb Spasticity Cognitive impairment NMS parkinsonism Dystonia, arm Parkinsonism Psychiatric disorders Dystonia (any or unspecified) Rigidity Hyperreflexia Motor fluctuations Pyramidal sign Postural instability Dystonia, leg Abnormal central motor function Bradykinesia Datscan/trodat with evidence of dopaminergic deficit Hypointensity on basal ganglia and or nigra Dystonia, axial Show more (+17) |
n.a.
|