Karkheiran, 2015: Overview of all reported DYT/PARK-PLA2G6 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
PAK
|
14
|
20
|
No
|
Dystonia, limb
Gait disturbance Myoclonus Hypointensity on basal ganglia and or nigra Hypomimic face Bradykinesia Dysarthria Dystonia, jaw Dystonia, craniofacial Dystonia, oromandibular Pyramidal sign Dystonia, hand Seizures Dystonia, foot Abnormal central motor function Hyperreflexia Mri brain other abnormalities Cerebellar atrophy Dystonia (any or unspecified) Parkinsonism Dystonia, generalized Show more (+18) |
n.a.
|