Kapoor, 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.
|
IND
|
3
|
4
|
No
|
Strabismus
Pyramidal sign Mri brain other abnormalities Optic atrophy Nystagmus Cerebellar atrophy Muscular hypotonia Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
2
|
2
|
No
|
Nystagmus
Optic atrophy Mri brain other abnormalities Cerebellar atrophy Strabismus Pyramidal sign Hypotonia Muscular hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
1
|
3
|
No
|
Cerebellar atrophy
Nystagmus Hypotonia Pyramidal sign Muscular hypotonia Optic atrophy Strabismus Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
1
|
3
|
No
|
Strabismus
Cerebellar atrophy Hypotonia Mri brain other abnormalities Pyramidal sign Optic atrophy Nystagmus Muscular hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
8
|
10
|
No
|
Dystonia (any or unspecified)
Bradykinesia Pyramidal sign Hypointensity on basal ganglia and or nigra Cerebellar atrophy Show more (+2) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
9
|
16
|
No
|
Dystonia (any or unspecified)
Pyramidal sign Hypointensity on basal ganglia and or nigra Cerebellar signs Cerebellar atrophy Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
2
|
5
|
No
|
Hypotonia
Pyramidal sign Mri brain other abnormalities Strabismus Cerebellar atrophy Optic atrophy Muscular hypotonia Nystagmus Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
2
|
3
|
No
|
Optic atrophy
Strabismus Mri brain other abnormalities Muscular hypotonia Nystagmus Hypotonia Pyramidal sign Cerebellar atrophy Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
2
|
3
|
No
|
Mri brain other abnormalities
Muscular hypotonia Optic atrophy Strabismus Hypotonia Cerebellar atrophy Nystagmus Pyramidal sign Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
2
|
4
|
No
|
Cerebellar atrophy
Muscular hypotonia Hypointensity on basal ganglia and or nigra Optic atrophy Hypotonia Pyramidal sign Nystagmus Strabismus Mri brain other abnormalities Show more (+6) |
n.a.
|