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