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.