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