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