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