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