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