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