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
|
Hyperreflexia
Hypointensity on basal ganglia and or nigra Myoclonus Dystonia, jaw Dystonia, craniofacial Pyramidal sign Dysarthria Gait disturbance Dystonia, oromandibular Dystonia, hand Parkinsonism Dystonia, limb Bradykinesia Dystonia, foot Abnormal central motor function Dystonia, generalized Hypomimic face Cerebellar atrophy Mri brain other abnormalities Dystonia (any or unspecified) Seizures Show more (+18) |
n.a.
|