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