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