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