Crompton, 2010: 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
C
n.a.
1
5
No
Hyperreflexia
Abnormal central motor function
Cerebellar atrophy
Hypointensity on basal ganglia and or nigra
Strabismus
Developmental regression
Dystonia (any or unspecified)
Spasticity
Muscular hypotonia
Pyramidal sign
Dystonia, limb
Nystagmus
Bulbar dysfunction
Show more (+10)
Developmental regression
No
C
n.a.
n.a.
n.a.
n.a.
Abnormal central motor function
Strabismus
Optic atrophy
Cerebellar atrophy
Bulbar dysfunction
Developmental regression
Muscular hypotonia
Pyramidal sign
Seizures
Show more (+6)
Strabismus
Developmental regression
Seizures
Yes
C
n.a.
2
4
No
Mri brain other abnormalities
Developmental regression
Nystagmus
Spasticity
Cerebellar atrophy
Pyramidal sign
Abnormal central motor function
Muscular hypotonia
Show more (+5)
Developmental regression
Spasticity
Muscular hypotonia
Yes
C
n.a.
n.a.
n.a.
n.a.
Pyramidal sign
Cerebellar atrophy
Strabismus
Bulbar dysfunction
Optic atrophy
Abnormal central motor function
Seizures
Muscular hypotonia
Developmental regression
Show more (+6)
Strabismus
Seizures
Developmental regression