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 at rest
Depression
Hypomimic face
Datscan/trodat with evidence of dopaminergic deficit
Cerebellar atrophy
Dystonia, oromandibular
Dystonia, cervical
Psychiatric disorders
Cerebellar signs
Cognitive impairment
Dystonia (any or unspecified)
Mri brain other abnormalities
Rigidity
Dystonia, hand
Dystonia, limb
Psychosis
Dystonic posturing
Postural instability
Hypointensity on basal ganglia and or nigra
NMS parkinsonism
Show more (+17)
Depression