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