Karkheiran, 2015: 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.
|
PAK
|
14
|
20
|
No
|
Bradykinesia
Hyperreflexia Hypointensity on basal ganglia and or nigra Myoclonus Gait disturbance Dystonia, limb Mri brain other abnormalities Dystonia, oromandibular Dystonia (any or unspecified) Abnormal central motor function Dystonia, hand Cerebellar atrophy Dystonia, generalized Dystonia, foot Dystonia, craniofacial Dystonia, jaw Dysarthria Pyramidal sign Parkinsonism Hypomimic face Seizures Show more (+18) |
n.a.
|