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