Kamel, 2019: Overview of all reported DYT/PARK-PLA2G6-(NBIA) patients

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