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