Kapoor, 2016: Overview of all reported DYT/PARK-PLA2G6 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
IND
3
4
No
Strabismus
Mri brain other abnormalities
Cerebellar atrophy
Muscular hypotonia
Pyramidal sign
Nystagmus
Optic atrophy
Show more (+4)
n.a.
Yes
n.a.
IND
2
2
No
Muscular hypotonia
Strabismus
Pyramidal sign
Optic atrophy
Nystagmus
Hypotonia
Mri brain other abnormalities
Cerebellar atrophy
Show more (+5)
n.a.
p.Arg70*: hom
Yes
n.a.
IND
1
3
No
Strabismus
Muscular hypotonia
Nystagmus
Hypotonia
Cerebellar atrophy
Pyramidal sign
Optic atrophy
Show more (+4)
n.a.
Yes
n.a.
IND
1
3
No
Muscular hypotonia
Hypotonia
Strabismus
Pyramidal sign
Cerebellar atrophy
Nystagmus
Optic atrophy
Mri brain other abnormalities
Show more (+5)
n.a.
Yes
n.a.
IND
8
10
No
Cerebellar atrophy
Hypointensity on basal ganglia and or nigra
Dystonia (any or unspecified)
Pyramidal sign
Bradykinesia
Show more (+2)
n.a.
p.Ala80Thr: hom
Yes
n.a.
IND
9
16
No
Cerebellar atrophy
Hypointensity on basal ganglia and or nigra
Cerebellar signs
Pyramidal sign
Dystonia (any or unspecified)
Show more (+2)
n.a.
Yes
n.a.
IND
2
5
No
Nystagmus
Cerebellar atrophy
Pyramidal sign
Optic atrophy
Muscular hypotonia
Mri brain other abnormalities
Hypotonia
Strabismus
Show more (+5)
n.a.
Yes
n.a.
IND
2
3
No
Hypotonia
Strabismus
Pyramidal sign
Mri brain other abnormalities
Nystagmus
Cerebellar atrophy
Optic atrophy
Muscular hypotonia
Show more (+5)
n.a.
Yes
n.a.
IND
2
3
No
Muscular hypotonia
Mri brain other abnormalities
Strabismus
Pyramidal sign
Nystagmus
Optic atrophy
Cerebellar atrophy
Hypotonia
Show more (+5)
n.a.
Yes
n.a.
IND
2
4
No
Hypointensity on basal ganglia and or nigra
Cerebellar atrophy
Mri brain other abnormalities
Nystagmus
Pyramidal sign
Hypotonia
Strabismus
Muscular hypotonia
Optic atrophy
Show more (+6)
n.a.