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