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