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
Dystonia, cervical
Psychiatric disorders
Dystonic posturing
Cognitive impairment
Datscan/trodat with evidence of dopaminergic deficit
Dystonia, limb
Postural instability
Dystonia, oromandibular
Dystonia at rest
Hypomimic face
Dystonia (any or unspecified)
Hypointensity on basal ganglia and or nigra
NMS parkinsonism
Mri brain other abnormalities
Dystonia, hand
Cerebellar atrophy
Depression
Psychosis
Rigidity
Cerebellar signs
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Depression