Blake, 2016: 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.
n.a.
2
3
n.a.
Dystonia, leg
Mri brain other abnormalities
Delayed speech and language development
Spasticity
Developmental regression
Dystonia, focal
Strabismus
Global developmental delay
Cerebellar atrophy
Delayed gross motor development
Seizures
Dystonia (any or unspecified)
Abnormal central motor function
Sleep disorder
Gait disturbance
NMS parkinsonism
Cognitive impairment
Pyramidal sign
Dystonia, limb
Muscular hypotonia
Hypotonia
Neuromuscular abnormality
Optic atrophy
Motor delay
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Motor delay