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