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